Sommaire par maladies / diseases · 2019. 11. 21. · 5. Neuromuscul Disord. 2019 Sep 12. pii:...

Bibliographie sur les maladies neuromusculaires

Bibliography of neuromuscular disorders n° 2019-11-1 du 28 octobre au 11 novembre 2019 (October 28 to November 11, 2019)

AFM-Téléthon (Service Documentation) – 12/11/2019 1/42

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Veille Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette veille est issue des Fiches Techniques Savoir & Comprendre publiées par l'AFM-Téléthon intitulées « Principales maladies neuromusculaires » (Novembre 2017) et « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (Septembre 2018). Vous trouverez les veilles précédentes sur notre portail documentaire dédié aux maladies neuromusculaires Myobase Every two weeks, the AFM documentation service publishes the “Neuromuscular Bibliography” in which you will find latest references published in Pubmed. The list of diseases below comes from both resources: « Principales maladies neuromusculaires » (November 2017) and « Recherche Neuromusculaire : Etat des lieux, 6ème Edition » (September 2018) published by AFM-Téléthon in Fiches Techniques Savoir & Comprendre Serie. Previous reports are available on Myobase, the informations tool about neuromuscular diseases.

Sommaire par maladies / diseases

Amyotrophies bulbospinales – Bulbospinal amyotrophies ........................................................................ 3 Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) .............. 3 Anoctaminopathies – Anoctaminopathies .................................................................................................... 5 Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ......................................................................................................................................... 5 Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ....................................... 10 Dysferlinopathies – Dysferlinopathies ........................................................................................................ 11 Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 11 Dystrophies myotoniques – Myotonic dystrophies ................................................................................... 11 Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ....................... 13 Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ............................................................ 13 Myasthénie autoimmune – Myasthenia gravis ........................................................................................... 17 Myopathies congénitales – Congenital myopathies .................................................................................. 20 Myopathies distales – Distal myopathies ................................................................................................... 21 Myopathies liées à CRYAB – CRYAB related myopathies ........................................................................ 21 Myopathies liées à la dynamine-2 – Dynamin-2 related myopathies ....................................................... 21 Myopathies inflammatoires – Inflammatory myopathies .......................................................................... 21 Myopathies métaboliques – Metabolic myopathies ................................................................................... 28 Maladie de Pompe – Pompe disease ........................................................................................................... 29 Myopathies mitochondriales – Mitochondrial myopathies ....................................................................... 30 Titinopathies – Titinopathies ........................................................................................................................ 32 Maladies du motoneurone (plusieurs pathologies) – Motor neuron diseases (Multiple) ...................... 33 Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ................. 33 Divers – Miscellaneous ................................................................................................................................. 36

Sommaire par spécialités / specialties Anatomopathologie – Anatomical pathology ............................................................................................. 38 Cardiologie – Cardiology .............................................................................................................................. 39 Douleur – Pain ................................................................................................................................................ 39

http://www.myobase.org/opac/index.php?lvl=cmspage&pageid=6&id_rubrique=55http://www.myobase.org/opac/index.php?lvl=cmspage&pageid=6&id_rubrique=55




Imagerie médicale – Medical imaging ......................................................................................................... 39 Médecine physique et de réadaptation – Physical and rehabilitation medicine ..................................... 40 Ophtalmologie – Ophthalmology ................................................................................................................. 40 Pneumologie – Pulmonogy .......................................................................................................................... 41




Amyotrophies bulbospinales – Bulbospinal amyotrophies 1. Neurotherapeutics. 2019 Nov 4. doi: 10.1007/s13311-019-00790-9. [Epub ahead of print]

Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease. Arnold FJ1, Merry DE2. 1Department of Biochemistry and Molecular Biology, Thomas Jefferson University, 411E Jefferson Alumni Hall, 1020 Locust Street, Philadelphia, Pennsylvania, 19107, USA. 2Department of Biochemistry and Molecular Biology, Thomas Jefferson University, 411E Jefferson Alumni Hall, 1020 Locust Street, Philadelphia, Pennsylvania, 19107, USA. [email protected]. KEYWORDS: Polyglutamine; androgen receptor; motor neuron; neurodegenerative disease; spinal and bulbar muscular atrophy. PMID: 31686397 DOI:10.1007/s13311-019-00790-9

2. J Neurol Sci. 2019 Oct 15;407:116503. doi: 10.1016/j.jns.2019.116503. [Epub ahead of print] Nasometric Scores in spinal and bulbar muscular atrophy - Effects of palatal lift prosthesis on dysarthria and dysphagia. Tanaka S1, Hashizume A2, Hijikata Y3, Yamada S4, Ito D5, Nakayama A6, Kurita K7, Yogo H8, Banno H9, Suzuki K10, Yamamoto M11, Sobue G12, Katsuno M13. 1Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan; Innovation Center for Clinical Research, National Center for Geriatrics and Gerontology, 7-430 Morioka-cho, Obu 474-8511, Japan; Department of Speech Pathology and Audiology, Aichi Gakuin University School of Health Science,12 Araike, Iwasaki-cho, Nisshin 470-0195, Japan. Electronic address: [email protected]. 2Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 3Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 4Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 5Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 6Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi Gakuin University, 2-11Suemori-dori, Chikusa-ku, Nagoya 464-8651, Japan. Electronic address: [email protected]. 7Department of Oral and Maxillofacial Surgery, School of Dentistry, Aichi Gakuin University, 2-11Suemori-dori, Chikusa-ku, Nagoya 464-8651, Japan. Electronic address: [email protected]. 8Department of Rehabilitation, Inokoshi Hospital, 1-1501 Inokoishihara, Meito-ku, Nagoya 465-0008, Japan. Electronic address: [email protected]. 9Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 10Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan; Innovation Center for Clinical Research, National Center for Geriatrics and Gerontology, 7-430 Morioka-cho, Obu 474-8511, Japan. Electronic address: [email protected]. 11Department of Speech Pathology and Audiology, Aichi Gakuin University School of Health Science,12 Araike, Iwasaki-cho, Nisshin 470-0195, Japan. Electronic address: [email protected]. 12Research Division of Dementia and Neurodegenerative Disease, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. 13Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address: [email protected]. KEYWORDS: Acoustic analysis; Dysarthria; Dysphagia; Palatal lift prosthesis; Spinal and bulbar muscular atrophy; Velopharyngeal dysfunction PMID: 31669728 DOI:10.1016/j.jns.2019.116503

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) 3. J Neuromuscul Dis. 2019 Nov 5. doi: 10.3233/JND-190424. [Epub ahead of print]

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. Schorling DC1, Pechmann A1, Kirschner J1,2. 1Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. 2Department of Neuropediatrics, University Hospital Bonn, Germany. KEYWORDS: Spinal muscular atrophy; antisense oligonucleotides; gene therapy; neonatal screening; outcome assessment; registries

https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31686397https://www.ncbi.nlm.nih.gov/pubmed/?term=Arnold%20FJ%5BAuthor%5D&cauthor=true&cauthor_uid=31686397https://www.ncbi.nlm.nih.gov/pubmed/?term=Merry%20DE%5BAuthor%5D&cauthor=true&cauthor_uid=31686397https://doi.org/10.1007/s13311-019-00790-9https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31669728https://www.ncbi.nlm.nih.gov/pubmed/31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Tanaka%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Hashizume%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Hijikata%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Yamada%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Ito%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Nakayama%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Kurita%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Yogo%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Banno%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Suzuki%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Yamamoto%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Sobue%20G%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://www.ncbi.nlm.nih.gov/pubmed/?term=Katsuno%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31669728https://doi.org/10.1016/j.jns.2019.116503https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31707373https://www.ncbi.nlm.nih.gov/pubmed/31707373https://www.ncbi.nlm.nih.gov/pubmed/?term=Schorling%20DC%5BAuthor%5D&cauthor=true&cauthor_uid=31707373https://www.ncbi.nlm.nih.gov/pubmed/?term=Pechmann%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31707373https://www.ncbi.nlm.nih.gov/pubmed/?term=Kirschner%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31707373https://dx.doi.org/10.1007/s13311-019-00790-9https://linkinghub.elsevier.com/retrieve/pii/S0022-510X(19)30435-6




PMID: 31707373 DOI:10.3233/JND-190424

4. J Neuromuscul Dis. 2019 Nov 5. doi: 10.3233/JND-190399. [Epub ahead of print] Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. Jones CC1, Cook SF1, Jarecki J2, Belter L2, Reyna SP1, Staropoli J1, Farwell W1, Hobby K2. 1Biogen, Cambridge, MA, USA. 2Cure SMA, Elk Grove Village, IL, USA. KEYWORDS: Child; epidemiology; genetics; growth & development; infant; mutation; neuromuscular disease PMID: 31707372 DOI:10.3233/JND-190399

5. Neuromuscul Disord. 2019 Sep 12. pii: S0960-8966(19)31127-7. [Epub ahead of print] Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. De Vivo DC1, Bertini E2, Swoboda KJ3, Hwu WL4, Crawford TO5, Finkel RS6, Kirschner J7, Kuntz NL8, Parsons JA9, Ryan MM10, Butterfield RJ11, Topaloglu H12, Ben-Omran T13, Sansone VA14, Jong YJ15, Shu F16, Staropoli JF17, Kerr D17, Sandrock AW17, Stebbins C17, Petrillo M17, Braley G17, Johnson K17, Foster R18, Gheuens S17, Bhan I17, Reyna SP17, Fradette S17, Farwell W17; NURTURE Study Group. 1Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: [email protected]. 2Unit of Neuromuscular and Neurodegenerative Disorders, Post-Graduate Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy. 3Department of Neurology, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. 4Departments of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. 5Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 6Division of Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA. 7Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Department of Neuropediatrics, University Medical Hospital, Bonn, Germany. 8Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. 9Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA. 10Royal Children's Hospital, University of Melbourne, Murdoch Children's Research Institute, Melbourne, Australia. 11Department of Pediatrics and Neurology, University of Utah, Salt Lake City, UT, USA. 12Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey. 13Sidra Medicine, Department of Pediatrics, Qatar Foundation, Doha, Qatar; Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar. 14NEMO Clinical Center - NEuroMuscular Omniservice, Milan, Italy; Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy. 15Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University; Departments of Pediatrics and Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan. 16Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. 17Biogen, Cambridge, MA, USA. 18Biogen, Maidenhead, Berkshire, UK. KEYWORDS: Clinical trial; Neurofilament; Newborn screening; Nusinersen; Presymptomatic; Spinal muscular atrophy PMID: 31704158 DOI:10.1016/j.nmd.2019.09.007

6. Biochemistry (Mosc). 2019 Sep;84(9):1074-1084. doi: 10.1134/S0006297919090104. Methods for Correction of the Single-Nucleotide Substitution c.840C>T in Exon 7 of the SMN2 Gene. Valetdinova KR1,2,3,4, Ovechkina VS5,2,3,4, Zakian SM5,2,3,4. 1Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, 630090, Russia. [email protected]. 2Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, 630090, Russia. 3Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, 630090, Russia. 4Novosibirsk State University, Novosibirsk, 630090, Russia. 5Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, 630090, Russia. PMID: 31693467 DOI:10.1134/S0006297919090104

https://doi.org/10.3233/JND-190424https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31707372https://www.ncbi.nlm.nih.gov/pubmed/31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Jones%20CC%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Cook%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Jarecki%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Belter%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Reyna%20SP%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Staropoli%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Farwell%20W%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://www.ncbi.nlm.nih.gov/pubmed/?term=Hobby%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31707372https://doi.org/10.3233/JND-190399https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31704158https://www.ncbi.nlm.nih.gov/pubmed/31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=De%20Vivo%20DC%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Bertini%20E%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Swoboda%20KJ%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Hwu%20WL%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Crawford%20TO%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Finkel%20RS%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Kirschner%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Kuntz%20NL%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Parsons%20JA%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Ryan%20MM%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Ryan%20MM%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Butterfield%20RJ%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Topaloglu%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Ben-Omran%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Sansone%20VA%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Jong%20YJ%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Shu%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Staropoli%20JF%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Kerr%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Sandrock%20AW%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Stebbins%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Petrillo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Braley%20G%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Johnson%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Foster%20R%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Gheuens%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Bhan%20I%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Reyna%20SP%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Fradette%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=Farwell%20W%5BAuthor%5D&cauthor=true&cauthor_uid=31704158https://www.ncbi.nlm.nih.gov/pubmed/?term=NURTURE%20Study%20Group%5BCorporate%20Author%5Dhttps://doi.org/10.1016/j.nmd.2019.09.007https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31693467https://www.ncbi.nlm.nih.gov/pubmed/?term=Valetdinova%20KR%5BAuthor%5D&cauthor=true&cauthor_uid=31693467https://www.ncbi.nlm.nih.gov/pubmed/?term=Ovechkina%20VS%5BAuthor%5D&cauthor=true&cauthor_uid=31693467https://www.ncbi.nlm.nih.gov/pubmed/?term=Zakian%20SM%5BAuthor%5D&cauthor=true&cauthor_uid=31693467https://doi.org/10.1134/S0006297919090104https://content.iospress.com/openurl?genre=article&id=doi:10.3233/JND-190424https://content.iospress.com/openurl?genre=article&id=doi:10.3233/JND-190399https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(19)31127-7https://dx.doi.org/10.1134/S0006297919090104




7. Int J Mol Sci. 2019 Oct 30;20(21). pii: E5397. doi: 10.3390/ijms20215397.

Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. Totzeck A1, Stolte B2, Kizina K3, Bolz S4, Schlag M5, Thimm A6, Kleinschnitz C7, Hagenacker T8. 1Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 2Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 3Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 4Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 5Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 6Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 7Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. 8Department of Neurology, University Hospital Essen, Hufelandstr. 55, 45147 Essen, Germany. [email protected]. KEYWORDS: SMA; amyotrophic lateral sclerosis; antisense oligonucleotide; motor neuron disease PMID: 31671515 DOI:10.3390/ijms20215397

8. Future Med Chem. 2019 Oct 31. doi: 10.4155/fmc-2019-0239. [Epub ahead of print] More is needed to complement the available therapies of spinal muscular atrophy. Singh RN1. 1Department of Biomedical Science, Iowa State University, Ames, IA 50011, USA. KEYWORDS: AAV9; ISS-N1; Spinraza; gene therapy; nusinersen; oligonucleotide; spinal muscular atrophy (SMA); survival motor neuron (SMN) PMID: 31668092 DOI:10.4155/fmc-2019-0239

Anoctaminopathies – Anoctaminopathies 9. Korean J Physiol Pharmacol. 2019 Nov;23(6):539-547. doi: 10.4196/kjpp.2019.23.6.539. Epub 2019 Oct 24.

Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. Phuong TTT1, An J1, Park SH1, Kim A1, Choi HB1, Kang TM1. 1Department of Physiology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea. KEYWORDS: Anoctamin 5; C2C12; Excitation-contraction coupling; Kif5b; Myoblast differentiation; Nuclear positioning PMID:31680776 PMCID: PMC6819897 DOI:10.4196/kjpp.2019.23.6.539

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker –

Dystrophinopathies 10. Neuromuscul Disord. 2019 Sep 25. pii: S0960-8966(19)31133-2. [Epub ahead of print]

Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. Jones HF1, Bryen SJ2, Waddell LB2, Bournazos A2, Davis M3, Farrar MA4, McLean CA5, Mowat DR6, Sampaio H7, Woodcock IR8, Ryan MM8, Jones KJ1, Cooper ST9. 1Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, New South Wales, Australia. 2Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia. 3Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Western Australia, Australia. 4Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, New South Wales, Australia. 5Anatomical Pathology and Victorian Neuromuscular Laboratory Service, Alfred Health and Monash University, Australia. 6Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia. 7Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.

https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31671515https://www.ncbi.nlm.nih.gov/pubmed/31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Totzeck%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Stolte%20B%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Kizina%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Bolz%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Schlag%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Thimm%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Kleinschnitz%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://www.ncbi.nlm.nih.gov/pubmed/?term=Hagenacker%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31671515https://doi.org/10.3390/ijms20215397https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31668092https://www.ncbi.nlm.nih.gov/pubmed/?term=Singh%20RN%5BAuthor%5D&cauthor=true&cauthor_uid=31668092https://doi.org/10.4155/fmc-2019-0239https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31680776https://www.ncbi.nlm.nih.gov/pubmed/31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=Phuong%20TTT%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=An%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=Park%20SH%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=Kim%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=Choi%20HB%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pubmed/?term=Kang%20TM%5BAuthor%5D&cauthor=true&cauthor_uid=31680776https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819897/https://doi.org/10.4196/kjpp.2019.23.6.539https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Jones%20HF%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Bryen%20SJ%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Waddell%20LB%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Bournazos%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Davis%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Farrar%20MA%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=McLean%20CA%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Mowat%20DR%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Sampaio%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Woodcock%20IR%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Ryan%20MM%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Jones%20KJ%5BAuthor%5D&cauthor=true&cauthor_uid=31706698https://www.ncbi.nlm.nih.gov/pubmed/?term=Cooper%20ST%5BAuthor%5D&cauthor=true&cauthor_uid=31706698http://www.mdpi.com/resolver?pii=ijms20215397https://www.future-science.com/doi/full/10.4155/fmc-2019-0239?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmedhttp://www.kjpp.net/journal/viewJournal.html?year=2019&vol=23&page=539https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31680776/




8Department of Neurology Royal Children's Hospital, Murdoch Childrens Research Institute and University of Melbourne, Parkville, Victoria, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia. 9Kids Neuroscience Centre, The Children's Hospital at Westmead, Sydney, New South Wales 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia. Electronic address: [email protected]. KEYWORDS: Becker muscular dystrophy; Duchenne muscular dystrophy; Missense variants; Muscle biopsy; Splice variants; mRNA studies PMID: 31706698 DOI:10.1016/j.nmd.2019.09.013

11. Dis Model Mech. 2019 Nov 8. pii: dmm.040840. doi: 10.1242/dmm.040840. [Epub ahead of print] In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy. Stay TL1,2,3, Miterko LN1,4,3, Arancillo M3, Lin T3, Sillitoe RV5,2,4,3. 1Department of Pathology & Immunology, Baylor College of Medicine, 1250 Moursund Street, Suite 1325, Houston, Texas 77030, USA. 2Department of Neuroscience, Baylor College of Medicine, 1250 Moursund Street, Suite 1325, Houston, Texas 77030, USA. 3Jan and Dan Duncan Neurological Research Institute of Texas Children's Hospital, 1250 Moursund Street, Suite 1325, Houston, Texas 77030, USA. 4Program in Developmental Biology, Baylor College of Medicine, 1250 Moursund Street, Suite 1325, Houston, Texas 77030, USA. 5Department of Pathology & Immunology, Baylor College of Medicine, 1250 Moursund Street, Suite 1325, Houston, Texas 77030, USA [email protected]. KEYWORDS: Cerebellar nuclei; Cerebellum; Circuitry; Duchenne muscular dystrophy; Purkinje cell; in vivo electrophysiology; mdx mice PMID: 31704708 DOI:10.1242/dmm.040840

12. Acta Histochem. 2019 Nov 4:151458. doi: 10.1016/j.acthis.2019.151458. [Epub ahead of print] Presence of metalloproteinases 2 and 9 and 8-OHdG in the fibrotic process in skeletal muscle of Mdx mice. Souza LB1, Maziero C1, Lazzarin MC1, Quintana HT1, Tomé TC1, Baptista VIA1, de Oliveira F2. 1Departamento de Biociências, Universidade Federal de São Paulo, Campus Baixada Santista, SP, Brazil. 2Departamento de Biociências, Universidade Federal de São Paulo, Campus Baixada Santista, SP, Brazil. Electronic address: [email protected]. KEYWORDS: 8-OHdG; Duchenne muscular dystrophy; MMP-2; MMP-9; Skeletal muscle PMID: 31699373 DOI: 10.1016/j.acthis.2019.151458

13. J Biol Regul Homeost Agents. 2019 Nov 5;33(6). doi: 10.23812/19-124-L. [Epub ahead of print] A newly discovered case of progressive muscular dystrophy caused by exon deletion mutation of Duchenne muscular dystrophy gene 12-28. Li BT#1, Chen JX#2, Li HA1, Huang XY1. 1Department of Pediatrics, Hainan Maternal and Child Health Hospital, Haikou, China. 2Department of Medical Care Center, Hainan General Hospital, Haikou, China. KEYWORDS: MLPA gene analysis; creatine kinase; muscular dystrophy PMID: 31698894 DOI:10.23812/19-124-L

14. Hum Mol Genet. 2019 Nov 7. pii: ddz266. doi: 10.1093/hmg/ddz266. [Epub ahead of print] Expression profiling in exercised mdx suggests a role for extracellular proteins in the dystrophic muscle immune response. Coles CA1,2, Gordon L1, Hunt LC1, Webster T3, Piers AT1,2, Kintakas C1,4, Woodman K1,2, Touslon SL2, Smythe GM5, White JD1,2, Lamandé SR1,6. 1Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia. 2Faculty of Veterinary and Agricultural Science, University of Melbourne, Melbourne, Australia. 3Agriculture Victoria, Department of Economic Development, Jobs, Transport and Resources, AgriBio, 5 Ring Rd, Bundoora, Australia. 4School of Medicine and Molecular and Medical Research SRC, Deakin University, Geelong, Australia. 5School of Community Health and Centre for Inland Health, Charles Sturt University, Albury-Wodonga, Australia. 6Department of Paediatrics, University of Melbourne, Melbourne, Australia. PMID: 31696230 DOI:10.1093/hmg/ddz266

https://doi.org/10.1016/j.nmd.2019.09.013https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31704708https://www.ncbi.nlm.nih.gov/pubmed/31704708https://www.ncbi.nlm.nih.gov/pubmed/?term=Stay%20TL%5BAuthor%5D&cauthor=true&cauthor_uid=31704708https://www.ncbi.nlm.nih.gov/pubmed/?term=Miterko%20LN%5BAuthor%5D&cauthor=true&cauthor_uid=31704708https://www.ncbi.nlm.nih.gov/pubmed/?term=Arancillo%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31704708https://www.ncbi.nlm.nih.gov/pubmed/?term=Lin%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31704708https://www.ncbi.nlm.nih.gov/pubmed/?term=Sillitoe%20RV%5BAuthor%5D&cauthor=true&cauthor_uid=31704708https://doi.org/10.1242/dmm.040840https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31699373https://www.ncbi.nlm.nih.gov/pubmed/31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Souza%20LB%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Maziero%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Lazzarin%20MC%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Quintana%20HT%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Tom%C3%A9%20TC%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=Baptista%20VIA%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://www.ncbi.nlm.nih.gov/pubmed/?term=de%20Oliveira%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31699373https://doi.org/10.1016/j.acthis.2019.151458https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31698894https://www.ncbi.nlm.nih.gov/pubmed/31698894https://www.ncbi.nlm.nih.gov/pubmed/?term=Li%20BT%5BAuthor%5D&cauthor=true&cauthor_uid=31698894https://www.ncbi.nlm.nih.gov/pubmed/?term=Chen%20JX%5BAuthor%5D&cauthor=true&cauthor_uid=31698894https://www.ncbi.nlm.nih.gov/pubmed/?term=Li%20HA%5BAuthor%5D&cauthor=true&cauthor_uid=31698894https://www.ncbi.nlm.nih.gov/pubmed/?term=Huang%20XY%5BAuthor%5D&cauthor=true&cauthor_uid=31698894https://doi.org/10.23812/19-124-Lhttps://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31696230https://www.ncbi.nlm.nih.gov/pubmed/31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Coles%20CA%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Gordon%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Hunt%20LC%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Webster%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Piers%20AT%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Kintakas%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Woodman%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Touslon%20SL%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Smythe%20GM%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=White%20JD%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=White%20JD%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://www.ncbi.nlm.nih.gov/pubmed/?term=Lamand%C3%A9%20SR%5BAuthor%5D&cauthor=true&cauthor_uid=31696230https://doi.org/10.1093/hmg/ddz266https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(19)31133-2http://dmm.biologists.org/cgi/pmidlookup?view=long&pmid=31704708https://linkinghub.elsevier.com/retrieve/pii/S0065-1281(19)30180-1




15. J Struct Biol. 2019 Nov 2:107411. doi: 10.1016/j.jsb.2019.107411. [Epub ahead of print] How the central domain of dystrophin acts to bridge F-actin to sarcolemmal lipids. Mias-Lucquin D1, Dos Santos Morais R2, Chéron A1, Lagarrigue M3, Winder SJ4, Chenuel T1, Pérez J5, Appavou MS6, Martel A7, Alviset G1, Le Rumeur E1, Combet S8, Hubert JF1, Delalande O9. 1Univ Rennes, CNRS, IGDR - UMR6290, F-35000 Rennes, France. 2Univ Rennes, CNRS, IGDR - UMR6290, F-35000 Rennes, France; Laboratoire Léon-Brillouin, UMR 12 CEA-CNRS, Université Paris-Saclay, CEA-Saclay, F-91191 Gif-sur-Yvette CEDEX, France; SWING Beamline, Synchrotron SOLEIL, L'Orme des Merisiers, BP 48, Saint-Aubin, F-91192 Gif-sur-Yvette, France. 3Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) UMR_S 1085, F-35000 Rennes, France; Protim, Univ Rennes, F-35000 Rennes, France. 4Department of Biomedical Science, University of Sheffield, Sheffield, S10 2TN UK. 5SWING Beamline, Synchrotron SOLEIL, L'Orme des Merisiers, BP 48, Saint-Aubin, F-91192 Gif-sur-Yvette, France. 6Jülich Centre for Neutron Science (JCNS) at Heinz Maier-Leibnitz Zentrum (MLZ), Forschungszentrum Jülich GmbH, Lichtenbergstr. 1, D-85748 Garching, Germany. 7Institut Laue-Langevin, F-38042 Grenoble, France. 8Laboratoire Léon-Brillouin, UMR 12 CEA-CNRS, Université Paris-Saclay, CEA-Saclay, F-91191 Gif-sur-Yvette CEDEX, France. 9Univ Rennes, CNRS, IGDR - UMR6290, F-35000 Rennes, France. Electronic address: [email protected]. KEYWORDS: F-actin; Small-Angle Scattering; bicelle membrane model; dystrophin; mass spectrometry; molecular modelling PMID: 31689503 DOI:10.1016/j.jsb.2019.107411

16. Stem Cell Res. 2019 Oct 25;41:101619. doi: 10.1016/j.scr.2019.101619. [Epub ahead of print] Characterization of mesoangioblast cell fate and improved promyogenic potential of a satellite cell-like subpopulation upon transplantation in dystrophic murine muscles. Mavoungou LO1, Neuenschwander S2, Pham U3, Iyer PS4, Mermod N5. 1Institute of Biotechnology and Department of Fundamental Microbiology, University of Lausanne, Lausanne, Switzerland. 2Vital-IT, Swiss Institute of Bioinformatics, Lausanne, Switzerland. 3Grand Valley State University, MI, USA. 4Institute of Biotechnology and Department of Fundamental Microbiology, University of Lausanne, Lausanne, Switzerland; Department of Chemistry and Applied Biosciences, ETH Zurich, 8093 Zürich, Switzerland. 5Institute of Biotechnology and Department of Fundamental Microbiology, University of Lausanne, Lausanne, Switzerland. Electronic address: [email protected]. KEYWORDS: Autologous transplantation; Mesoangioblast cells; Muscle dystrophies; Myogenic differentiation; Stem cell fate PMID: 31683098 DOI:10.1016/j.scr.2019.101619

17. Mol Ther Nucleic Acids. 2019 Sep 28;18:580-589. doi: 10.1016/j.omtn.2019.09.020. [Epub ahead of print] Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models. Barthélémy F1, Wang RT2, Hsu C1, Douine ED2, Marcantonio EE3, Nelson SF4, Miceli MC5. 1Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, and College of Letters and Sciences, University of California, Los Angeles, Los Angeles, CA, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA. 2Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. 3ARMGO Pharma, Inc., Ardsley, NY 10502, USA. 4Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA; Eli & Edythe Broad Center of Regenerative Medicine & Stem Cell Research, University of California Los Angeles, Los Angeles, CA, USA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA, USA. 5Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, and College of Letters and Sciences, University of California, Los Angeles, Los Angeles, CA, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, Los Angeles, CA, USA; Eli & Edythe Broad Center of Regenerative Medicine & Stem Cell Research, University of California Los Angeles, Los Angeles, CA, USA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA, USA; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, CA, USA. Electronic address: [email protected].

https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Mias-Lucquin%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Dos%20Santos%20Morais%20R%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Ch%C3%A9ron%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Lagarrigue%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Winder%20SJ%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Chenuel%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=P%C3%A9rez%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Appavou%20MS%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Martel%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Alviset%20G%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Le%20Rumeur%20E%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Combet%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Hubert%20JF%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://www.ncbi.nlm.nih.gov/pubmed/?term=Delalande%20O%5BAuthor%5D&cauthor=true&cauthor_uid=31689503https://doi.org/10.1016/j.jsb.2019.107411https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31683098https://www.ncbi.nlm.nih.gov/pubmed/31683098https://www.ncbi.nlm.nih.gov/pubmed/?term=Mavoungou%20LO%5BAuthor%5D&cauthor=true&cauthor_uid=31683098https://www.ncbi.nlm.nih.gov/pubmed/?term=Neuenschwander%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31683098https://www.ncbi.nlm.nih.gov/pubmed/?term=Pham%20U%5BAuthor%5D&cauthor=true&cauthor_uid=31683098https://www.ncbi.nlm.nih.gov/pubmed/?term=Iyer%20PS%5BAuthor%5D&cauthor=true&cauthor_uid=31683098https://www.ncbi.nlm.nih.gov/pubmed/?term=Mermod%20N%5BAuthor%5D&cauthor=true&cauthor_uid=31683098https://doi.org/10.1016/j.scr.2019.101619https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31678734https://www.ncbi.nlm.nih.gov/pubmed/31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Barth%C3%A9l%C3%A9my%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Wang%20RT%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Hsu%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Douine%20ED%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Marcantonio%20EE%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Nelson%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://www.ncbi.nlm.nih.gov/pubmed/?term=Miceli%20MC%5BAuthor%5D&cauthor=true&cauthor_uid=31678734https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddz266https://linkinghub.elsevier.com/retrieve/pii/S1047-8477(19)30232-1https://linkinghub.elsevier.com/retrieve/pii/S1873-5061(19)30249-1




KEYWORDS: ARM210; Duchenne muscular dystrophy; armgo; combination therapy; dantrolene; dystrophin; exon skipping; muscle; therapy PMID: 31678734 DOI:10.1016/j.omtn.2019.09.020

18. Neuromuscul Disord. 2019 Sep 24. pii: S0960-8966(19)31129-0. [Epub ahead of print] Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature. Gibbs EM1, Barthélémy F2, Douine ED3, Hardiman NC2, Shieh PB4, Khanlou N5, Crosbie RH6, Nelson SF7, Miceli MC8. 1Department of Integrative Biology and Physiology, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA. 2Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. 3Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. 4Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA. 5Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA. 6Department of Integrative Biology and Physiology, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA. 7Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, 90095, USA. 8Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Molecular Biology Institute, University of California, Los Angeles, CA 90095, USA. Electronic address: [email protected]. KEYWORDS: Becker muscular dystrophy; Duchenne muscular dystrophy; Dystrophin; Dystrophin-glycoprotein complex; Utrophin PMID: 31672265 DOI:10.1016/j.nmd.2019.09.009

19. JAMA Netw Open. 2019 Oct 2;2(10):e1914171. doi: 10.1001/jamanetworkopen.2019.14171. Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. Hafner P1,2, Bonati U1, Klein A1,3,4, Rubino D1, Gocheva V1, Schmidt S1,5, Schroeder J1, Bernert G6, Laugel V7, Steinlin M3, Capone A8, Gloor M9, Bieri O9, Hemkens LG10, Speich B10, Zumbrunn T11, Gueven N12, Fischer D1,2,5. 1Division of Pediatric Neurology, University Children's Hospital Basel, Basel, Switzerland. 2Division of Neurology, Medical University Clinic, Kantonsspital Baselland, Bruderholz, Switzerland. 3Division of Pediatric Neurology, University of Berne Hospital, Berne, Switzerland. 4Division of Pediatric Neurology, Lausanne University Hospital, Lausanne, Switzerland. 5Department of Neurology, University Hospital Basel, Basel, Switzerland. 6Department of Pediatrics, Kaiser Franz Josef Hospital, Vienna, Austria. 7Department of Pediatric Neurology, Strasbourg University Hospital, Strasbourg, France. 8Division of Pediatric Neurology, Children's Hospital, Aarau, Switzerland. 9Division of Radiological Physics, Department of Radiology, University Hospital Basel, Basel, Switzerland. 10Basel Institute for Clinical Epidemiology and Biostatistics, Department of Clinical Research, University Hospital Basel, Basel, Switzerland. 11Clinical Trial Unit, Department of Clinical Research, University Hospital Basel, Basel, Switzerland. 12Pharmacy, School of Medicine, University of Tasmania, Hobart, Tasmania, Australia. PMID: 31664444 DOI:10.1001/jamanetworkopen.2019.14171

20. Turk J Phys Med Rehabil. 2019 Aug 20;65(3):216-221. doi: 10.5606/tftrd.2019.3565. eCollection 2019 Sep. The relationship of bone mineral density and vitamin D levels with steroid use and ambulation in patients with Duchenne muscular dystrophy.

https://doi.org/10.1016/j.omtn.2019.09.020https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31672265https://www.ncbi.nlm.nih.gov/pubmed/31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Gibbs%20EM%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Barth%C3%A9l%C3%A9my%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Douine%20ED%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Hardiman%20NC%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Shieh%20PB%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Khanlou%20N%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Crosbie%20RH%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Nelson%20SF%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://www.ncbi.nlm.nih.gov/pubmed/?term=Miceli%20MC%5BAuthor%5D&cauthor=true&cauthor_uid=31672265https://doi.org/10.1016/j.nmd.2019.09.009https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31664444https://www.ncbi.nlm.nih.gov/pubmed/31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Hafner%20P%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Bonati%20U%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Klein%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Rubino%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Gocheva%20V%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Schmidt%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Schroeder%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Bernert%20G%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Laugel%20V%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Steinlin%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Capone%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Gloor%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Bieri%20O%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Hemkens%20LG%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Speich%20B%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Zumbrunn%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Gueven%20N%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://www.ncbi.nlm.nih.gov/pubmed/?term=Fischer%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31664444https://doi.org/10.1001/jamanetworkopen.2019.14171https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31663069https://www.ncbi.nlm.nih.gov/pubmed/31663069https://linkinghub.elsevier.com/retrieve/pii/S2162-2531(19)30267-7https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(19)31129-0https://jamanetwork.com/journals/jamanetworkopen/fullarticle/10.1001/jamanetworkopen.2019.14171




Sertpoyraz FM1, Tiftikçioğlu Bİ2. 1Department of Physical Medicine and Rehabilitation, Health Science University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey. 2Department of Neurology, Health Science University, Izmir Tepecik Training and Research Hospital, Izmir, Turkey. KEYWORDS: Ambulation; Duchenne muscular dystrophy; bone mineral density; steroid; vitamin D PMID: 31663069 PMCID: PMC6797922 DOI:10.5606/tftrd.2019.3565

21. BMC Res Notes. 2019 Oct 28;12(1):704. doi: 10.1186/s13104-019-4730-1. The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine. Iskandar K1, Dwianingsih EK2, Pratiwi L3, Kalim AS3, Mardhiah H3, Putranti AH4, Nurputra DK5, Triono A5, Herini ES5, Malueka RG6, Gunadi7, Lai PS8, Sunartini5. 1Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Jl. Kabupaten (Lingkar Utara), Kronggahan, Trihanggo, Gamping, Sleman, Yogyakarta, 55291, Indonesia. [email protected]. 2Department of Anatomical Pathology/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia. 3Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, 55281, Indonesia. 4Department of Child Health, Faculty of Medicine, Universitas Diponegoro/Dr. Kariadi Teaching Hospital, Semarang, 50244, Indonesia. 5Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia. 6Department of Neurology/Genetics Working Group, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia. 7Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia. 8Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119074, Singapore. KEYWORDS: DMD gene deletion; Duchenne/Becker muscular dystrophy; Exon skipping therapy; Multiplex PCR PMID: 31661024 PMCID: PMC6819651 DOI: 10.1186/s13104-019-4730-1

22. Eur Heart J Case Rep. 2019 Jul 13;3(3):ytz117. doi: 10.1093/ehjcr/ytz117. eCollection 2019 Sep. Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report. Dolader P1, Field E1,2, Sarkozy A3, Kaski JP1,2. 1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK. 2Institute of Cardiovascular Science, University College London, London WC1N 1EH, UK. 3The Dubowitz Neuromuscular Centre, Department of Neuropathology, Great Ormond Street Hospital, Great Ormond Street, London WC1N3JH, UK. KEYWORDS: Cardiomyopathy; Case report; Genetics; Hypertrophic; Muscular dystrophy; Phenotype; Sarcomere PMID: 31660490 PMCID: PMC6764571 DOI:10.1093/ehjcr/ytz117

23. Exp Mol Med. 2019 Oct 28;51(10):127. doi: 10.1038/s12276-019-0334-z. No more helper adenovirus: production of gutless adenovirus (GLAd) free of adenovirus and replication-competent adenovirus (RCA) contaminants. Lee D1, Liu J2, Junn HJ1, Lee EJ3, Jeong KS3, Seol DW4. 1Genenmed Inc., 84 Seongsuil-ro, Seongdong-gu, Seoul, Republic of Korea. 2College of Pharmacy, Chung-Ang University, Seoul, Republic of Korea. 3Department of Veterinary Pathology, College of Veterinary Medicine, Kyungpook National University, Daegu City, Republic of Korea. 4College of Pharmacy, Chung-Ang University, Seoul, Republic of Korea. [email protected]. PMID: 31659156 PMCID: PMC6817846 DOI:10.1038/s12276-019-0334-z

https://www.ncbi.nlm.nih.gov/pubmed/?term=Sertpoyraz%20FM%5BAuthor%5D&cauthor=true&cauthor_uid=31663069https://www.ncbi.nlm.nih.gov/pubmed/?term=Tiftik%C3%A7io%C4%9Flu%20B%C4%B0%5BAuthor%5D&cauthor=true&cauthor_uid=31663069https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797922/https://doi.org/10.5606/tftrd.2019.3565https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31661024https://www.ncbi.nlm.nih.gov/pubmed/31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Iskandar%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Dwianingsih%20EK%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Pratiwi%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Kalim%20AS%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Mardhiah%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Putranti%20AH%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Nurputra%20DK%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Triono%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Herini%20ES%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Malueka%20RG%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Gunadi%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Lai%20PS%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pubmed/?term=Sunartini%5BAuthor%5D&cauthor=true&cauthor_uid=31661024https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819651/https://doi.org/10.1186/s13104-019-4730-1https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31660490https://www.ncbi.nlm.nih.gov/pubmed/31660490https://www.ncbi.nlm.nih.gov/pubmed/?term=Dolader%20P%5BAuthor%5D&cauthor=true&cauthor_uid=31660490https://www.ncbi.nlm.nih.gov/pubmed/?term=Field%20E%5BAuthor%5D&cauthor=true&cauthor_uid=31660490https://www.ncbi.nlm.nih.gov/pubmed/?term=Sarkozy%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31660490https://www.ncbi.nlm.nih.gov/pubmed/?term=Kaski%20JP%5BAuthor%5D&cauthor=true&cauthor_uid=31660490https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764571/https://doi.org/10.1093/ehjcr/ytz117https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31659156https://www.ncbi.nlm.nih.gov/pubmed/31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Lee%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Liu%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Junn%20HJ%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Lee%20EJ%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Jeong%20KS%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pubmed/?term=Seol%20DW%5BAuthor%5D&cauthor=true&cauthor_uid=31659156https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817846/https://doi.org/10.1038/s12276-019-0334-zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31663069/https://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-019-4730-1https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31661024/https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660490/http://dx.doi.org/10.1038/s12276-019-0334-zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31659156/




24. JRSM Cardiovasc Dis. 2019 Sep 29;8:2048004019879581. eCollection 2019 Jan-Dec. Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models. Spaulding HR1, Ballmann C2, Quindry JC3, Hudson MB4, Selsby JT1. 1Department of Animal Science, Iowa State University, Ames, USA. 2Department of Kinesiology, Samford University, Birmingham, USA. 3Health and Human Performance, University of Montana, Missoula, USA. 4Department of Kinesiology and Applied Physiology, University of Delaware, Newark, USA. Background: Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods: Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results: Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion: Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction. KEYWORDS: Duchenne muscular dystrophy; heart; mdx; utrophin PMID: 31656622 PMCID: PMC6790947 DOI:10.1177/2048004019879581

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies 25. Mol Genet Genomic Med. 2019 Nov 6:e1029. doi: 10.1002/mgg3.1029. [Epub ahead of print]

Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect. Mojbafan M1,2, Tina S3, Zafarghandi Motlagh F3, Surguchov A4, Nilipour Y5, Zeinali S3,6. 1Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran. 2Department of medical genetics, Ali-Asghar Children's Hospital, Tehran, Iran. 3Kawsar Human Genetics Research Center, Tehran, Iran. 4Department of Neurology, Kansas University Medical Center, Kansas City, KS, USA. 5Pathology Department, Pediatric Pathology Research Center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 6Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. KEYWORDS: DYSF ; Iran; founder effect; haplotype analysis; novel mutations PMID: 31693312 DOI:10.1002/mgg3.1029

26. J Cell Sci. 2019 Nov 4. pii: jcs.236596. doi: 10.1242/jcs.236596. [Epub ahead of print] TRIM32 acts both as a substrate and a positive regulator of p62/SQSTM1 impaired in a muscular dystrophy disease. Stange Overå K1, Garcia Garcia J1, Bhujabal Z1, Jain A1, Øvervatn A1, Larsen KB1, Deretic V2, Johansen T1, Lamark T1, Sjøttem E3. 1Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway. 2Autophagy Inflammation and Metabolism Center of Biomedical Research Excellence, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA, Department of Molecular Genetics and Microbiology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA. 3Molecular Cancer Research Group, Department of Medical Biology, University of Tromsø -The Arctic University of Norway, 9037 Tromsø, Norway [email protected]. KEYWORDS: AUTOPHAGY; BBS11; LGMD2H; P62/SQSTM1; TRIM32; UBIQUITYLATION PMID: 31685529 DOI:10.1242/jcs.236596

27. Protein Expr Purif. 2019 Nov 1:105525. doi: 10.1016/j.pep.2019.105525. [Epub ahead of print] Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan. Jamaladdine M1, Harris MS1, Liyanage L1, Cook GA2. 1Oklahoma State University, Department of Chemistry, 107 Physical Science, Stillwater, OK, 74074, USA.

https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31656622https://www.ncbi.nlm.nih.gov/pubmed/31656622https://www.ncbi.nlm.nih.gov/pubmed/?term=Spaulding%20HR%5BAuthor%5D&cauthor=true&cauthor_uid=31656622https://www.ncbi.nlm.nih.gov/pubmed/?term=Ballmann%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31656622https://www.ncbi.nlm.nih.gov/pubmed/?term=Quindry%20JC%5BAuthor%5D&cauthor=true&cauthor_uid=31656622https://www.ncbi.nlm.nih.gov/pubmed/?term=Hudson%20MB%5BAuthor%5D&cauthor=true&cauthor_uid=31656622https://www.ncbi.nlm.nih.gov/pubmed/?term=Selsby%20JT%5BAuthor%5D&cauthor=true&cauthor_uid=31656622https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6790947/https://doi.org/10.1177/2048004019879581https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31693312https://www.ncbi.nlm.nih.gov/pubmed/31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Mojbafan%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Tina%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Zafarghandi%20Motlagh%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Surguchov%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Nilipour%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://www.ncbi.nlm.nih.gov/pubmed/?term=Zeinali%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31693312https://doi.org/10.1002/mgg3.1029https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31685529https://www.ncbi.nlm.nih.gov/pubmed/31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Stange%20Over%C3%A5%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Garcia%20Garcia%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Bhujabal%20Z%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Jain%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=%C3%98vervatn%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Larsen%20KB%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Deretic%20V%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Johansen%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Lamark%20T%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://www.ncbi.nlm.nih.gov/pubmed/?term=Sj%C3%B8ttem%20E%5BAuthor%5D&cauthor=true&cauthor_uid=31685529https://doi.org/10.1242/jcs.236596https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31682967https://www.ncbi.nlm.nih.gov/pubmed/31682967https://www.ncbi.nlm.nih.gov/pubmed/?term=Jamaladdine%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31682967https://www.ncbi.nlm.nih.gov/pubmed/?term=Harris%20MS%5BAuthor%5D&cauthor=true&cauthor_uid=31682967https://www.ncbi.nlm.nih.gov/pubmed/?term=Liyanage%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31682967https://www.ncbi.nlm.nih.gov/pubmed/?term=Cook%20GA%5BAuthor%5D&cauthor=true&cauthor_uid=31682967http://journals.sagepub.com/doi/full/10.1177/2048004019879581?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmedhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31656622/https://doi.org/10.1002/mgg3.1029http://jcs.biologists.org/cgi/pmidlookup?view=long&pmid=31685529




2Oklahoma State University, Department of Chemistry, 107 Physical Science, Stillwater, OK, 74074, USA. Electronic address: [email protected]. KEYWORDS: Glycoprotein; Membrane protein expression; Muscular dystrophy; γ-Sarcoglycan PMID: 31682967 DOI:10.1016/j.pep.2019.105525

Dysferlinopathies – Dysferlinopathies 28. Neuromuscul Disord. 2019 Sep 13. pii: S0960-8966(19)31128-9. [Epub ahead of print]

A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film. Cox D1, Henderson M2, Straub V1, Barresi R3. 1John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. 2Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, NHS England Highly Specialised Service for Rare Neuromuscular Disorders (LGMD), Dental Hospital, Richardson Road, Newcastle upon Tyne NE2 4AZ, UK. 3John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, NHS England Highly Specialised Service for Rare Neuromuscular Disorders (LGMD), Dental Hospital, Richardson Road, Newcastle upon Tyne NE2 4AZ, UK. Electronic address: [email protected]. KEYWORDS: Blood film; Dysferlinopathy; Immunohistochemistry; Muscular dystrophy PMID: 31668500 DOI: 10.1016/j.nmd.2019.09.008

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD)

29. J Cachexia Sarcopenia Muscle. 2019 Oct 30. doi: 10.1002/jcsm.12473. [Epub ahead of print] Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging. Monforte M1,2, Laschena F3, Ottaviani P3, Bagnato MR2, Pichiecchio A4,5, Tasca G1, Ricci E1,2. 1Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. 2Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. 3Radiology Department, IDI IRCCS, Rome, Italy. 4Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy. 5Brain and Behavioral Department, University of Pavia, Pavia, Italy. KEYWORDS: Biomarkers; FSHD; Facioscapulohumeral muscular dystrophy; Muscle MRI; Muscle wasting; STIR hyperintensity PMID: 31668022 DOI: 10.1002/jcsm.12473

Dystrophies myotoniques – Myotonic dystrophies 30. Ann Hematol. 2019 Nov 9. doi: 10.1007/s00277-019-03828-2. [Epub ahead of print]

Aggressive systemic mastocytosis: a diagnostic challenge in a patient with myotonic dystrophy type 2: a case report. Tran CLH1, Jaekel N1, Bauer M2, Emmer A3, Wickenhauser C2, Al-Ali HK4. 1Department of Hematology/Oncology, University Hospital Halle, Germany, Ernst-Grube-Str. 40, 06120, Halle, Germany. 2Department of Pathology, University Hospital Halle, Germany, Magdeburger Str. 2, 06112, Halle, Germany. 3Department of Neurology, University Hospital Halle, Germany, Ernst-Grube-Str. 40, 06120, Halle, Germany. 4Department of Hematology/Oncology, University Hospital Halle, Germany, Ernst-Grube-Str. 40, 06120, Halle, Germany. [email protected]. PMID: 31705184 DOI: 10.1007/s00277-019-03828-2

31. Dev Med Child Neurol. 2019 Nov 8. doi: 10.1111/dmcn.14395. [Epub ahead of print] Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study. Eriksson BM1, Ekström AB1, Peny-Dahlstrand M1,2. 1Regional Pediatric Rehabilitation Center, Silvia Children's Hospital, Queen, Gothenburg. 2Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. PMID: 31701525 DOI:10.1111/dmcn.14395

https://doi.org/10.1016/j.pep.2019.105525https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31668500https://www.ncbi.nlm.nih.gov/pubmed/?term=Cox%20D%5BAuthor%5D&cauthor=true&cauthor_uid=31668500https://www.ncbi.nlm.nih.gov/pubmed/?term=Henderson%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31668500https://www.ncbi.nlm.nih.gov/pubmed/?term=Straub%20V%5BAuthor%5D&cauthor=true&cauthor_uid=31668500https://www.ncbi.nlm.nih.gov/pubmed/?term=Barresi%20R%5BAuthor%5D&cauthor=true&cauthor_uid=31668500https://doi.org/10.1016/j.nmd.2019.09.008https://www.ncbi.nlm.nih.gov/pubmed/clipboardhttps://www.ncbi.nlm.nih.gov/pubmed/31668022https://www.ncbi.nlm.nih.gov/pubmed/31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Monforte%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Laschena%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Ottaviani%20P%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Bagnato%20MR%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Pichiecchio%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Tasca%20G%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://www.ncbi.nlm.nih.gov/pubmed/?term=Ricci%20E%5BAuthor%5D&cauthor=true&cauthor_uid=31668022https://doi.org/10.1002/jcsm.12473https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31705184https://www.ncbi.nlm.nih.gov/pubmed/31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Tran%20CLH%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Jaekel%20N%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Bauer%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Emmer%20A%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Wickenhauser%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://www.ncbi.nlm.nih.gov/pubmed/?term=Al-Ali%20HK%5BAuthor%5D&cauthor=true&cauthor_uid=31705184https://doi.org/10.1007/s00277-019-03828-2https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31701525https://www.ncbi.nlm.nih.gov/pubmed/31701525https://www.ncbi.nlm.nih.gov/pubmed/?term=Eriksson%20BM%5BAuthor%5D&cauthor=true&cauthor_uid=31701525https://www.ncbi.nlm.nih.gov/pubmed/?term=Ekstr%C3%B6m%20AB%5BAuthor%5D&cauthor=true&cauthor_uid=31701525https://www.ncbi.nlm.nih.gov/pubmed/?term=Peny-Dahlstrand%20M%5BAuthor%5D&cauthor=true&cauthor_uid=31701525https://doi.org/10.1111/dmcn.14395https://linkinghub.elsevier.com/retrieve/pii/S1046-5928(19)30437-1https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(19)31128-9https://dx.doi.org/10.1007/s00277-019-03828-2https://doi.org/10.1111/dmcn.14395




32. Front Neurol. 2019 Oct 11;10:1071. doi: 10.3389/fneur.2019.01071. eCollection 2019. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Higgs C1, Hilbert JE2, Wood L3, Martens WB2, Marini-Bettolo C3, Nikolenko N3,4, Alsaggaf R1, Lochmüller H5,6,7,8, Moxley RT2, Greene MH1, Wang Y1, Gadalla SM1. 1Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, United States. 2Department of Neurology, Neuromuscular Disease Center, University of Rochester Medical Center, Rochester, NY, United States. 3John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom. 4National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom. 5Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany. 6Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation Barcelona, Institute of Science and Technology (BIST), Barcelona, Spain. 7Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. 8Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada. KEYWORDS: Steinert's disease; benign tumor; cancer; endometrial cancer; female reproductive factors; myotonic dystrophy; ovarian cancer PMID: 31681146 PMCID: PMC6797599 DOI:10.3389/fneur.2019.01071

33. J Neurol. 2019 Oct 31. doi: 10.1007/s00415-019-09592-7. [Epub ahead of print] Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1. Laberge L1,2,3,4,5, Gallais B6,7,8,9, Auclair J6, Dauvilliers Y10, Mathieu J7,8,9, Gagnon C7,8,9. 1ÉCOBES-Recherche et Transfert, Cégep de Jonquière, 2505, Rue Saint Hubert, Jonquière, QC, G7X 7W2, Canada. [email protected]. 2Département des Sciences de la Santé, Université du Québec à Chicoutimi, 555, Boul. de l'Université, Chicoutimi, QC, G7H 2B1, Canada. [email protected]. 3Faculté de Médecine et des Sciences de la Santé, École de Réadaptation, Université de Sherbrooke, Sherbrooke, QC, Canada. [email protected]. 4Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de services Sociaux du Saguenay-Lac-St-Jean, Jonquière, QC, Canada. [email protected]. 5Centre de Recherche Charles-Le-Moyne, Centre Intégré Universitaire du Saguenay-Lac-St-Jean sur les Innovations en Santé, Université de Sherbrooke, Jonquière, QC, Canada. [email protected]. 6ÉCOBES-Recherche et Transfert, Cégep de Jonquière, 2505, Rue Saint Hubert, Jonquière, QC, G7X 7W2, Canada. 7Faculté de Médecine et des Sciences de la Santé, École de Réadaptation, Université de Sherbrooke, Sherbrooke, QC, Canada. 8Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Intégré Universitaire de Santé et de services Sociaux du Saguenay-Lac-St-Jean, Jonquière, QC, Canada. 9Centre de Recherche Charles-Le-Moyne, Centre Intégré Universitaire du Saguenay-Lac-St-Jean sur les Innovations en Santé, Université de Sherbrooke, Jonquière, QC, Canada. 10Département de Neurologie, Hôpital Gui-de-Chauliac, INSERM U1061, 80 Avenue Augustin Fliche, 34295, Montpellier Cedex 5, France. KEYWORDS: Daytime sleepiness; Fatigue; Linear mixed-effects regression model; Longitudinal; Myotonic dystrophy; Prospective PMID: 31673761 DOI:10.1007/s00415-019-09592-7

34. J Neurol. 2019 Oct 26. doi: 10.1007/s00415-019-09593-6. [Epub ahead of print] A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients. Montagnese F1, Stahl K2, Wenninger S2, Schoser B2. 1Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany. [email protected]. 2Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University Munich, Ziemssenstr. 1, 80336, Munich, Germany. KEYWORDS: Cannabidiol; Cannabis; Myotonia; Myotonic dystrophy; Tetrahydrocannabinol PMID: 31655890 DOI:10.1007/s00415-019-09593-6

https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31681146https://www.ncbi.nlm.nih.gov/pubmed/31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Higgs%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Hilbert%20JE%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Wood%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Martens%20WB%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Marini-Bettolo%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Nikolenko%20N%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Alsaggaf%20R%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Lochm%C3%BCller%20H%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Moxley%20RT%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Moxley%20RT%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Greene%20MH%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Wang%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pubmed/?term=Gadalla%20SM%5BAuthor%5D&cauthor=true&cauthor_uid=31681146https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797599/https://doi.org/10.3389/fneur.2019.01071https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Laberge%20L%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Gallais%20B%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Auclair%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Dauvilliers%20Y%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Mathieu%20J%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://www.ncbi.nlm.nih.gov/pubmed/?term=Gagnon%20C%5BAuthor%5D&cauthor=true&cauthor_uid=31673761https://doi.org/10.1007/s00415-019-09592-7https://www.ncbi.nlm.nih.gov/pubmedhttps://www.ncbi.nlm.nih.gov/pubmed/31655890https://www.ncbi.nlm.nih.gov/pubmed/31655890https://www.ncbi.nlm.nih.gov/pubmed/?term=Montagnese%20F%5BAuthor%5D&cauthor=true&cauthor_uid=31655890https://www.ncbi.nlm.nih.gov/pubmed/?term=Stahl%20K%5BAuthor%5D&cauthor=true&cauthor_uid=31655890https://www.ncbi.nlm.nih.gov/pubmed/?term=Wenninger%20S%5BAuthor%5D&cauthor=true&cauthor_uid=31655890https://www.ncbi.nlm.nih.gov/pubmed/?term=Schoser%20B%5BAuthor%5D&cauthor=true&cauthor_uid=31655890https://doi.org/10.1007/s00415-019-09593-6https://doi.org/10.3389/fneur.2019.01071https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31681146/https://dx.doi.org/10.1007/s00415-019-09592-7https://dx.doi.org/10.1007/s00415-019-09593-6




Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva

35. Curr Opin Pediatr. 2019 Dec;31(6):716-722. doi: 10.1097/MOP.0000000000000802. Fibrodysplasia ossificans progressiva: lessons learned from a rare disease. Akyuz G1, Gencer-Atalay K1, Ata P2. 1Department of Physical Medicine and Rehabilitation, Marmara University School of Medicine. 2Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey. PMID: 31693578 DOI:10.1097/MOP.0000000000000802

36. Cells. 2019 Oct 31;8(11). pii: E1366. doi: 10.3390/cells8111366. ACVR1 Function in Health and Disease. Valer JA1, Sánchez-de-Diego C2, Pimenta-Lopes C3, Rosa JL4, Ventura F5. 1Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. [email protected]. 2Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. [email protected]. 3Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. [email protected]. 4Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. [email protected]. 5Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain. [email protected]. KEYWORDS: ACVR1; ALK2; BMP; DIPG (diffuse intrinsic pontine glioma), FOP (fibrodysplasia os

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