Sommaire par maladies / diseases Bibliography of neuromuscular disorders Bibliographie sur les maladies neuromusculaires

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021)

Publiée tous les 15 jours par le service de documentation de l'AFM-Téléthon, la « Bibliographie Neuromusculaire » contient les dernières références intégrées dans Pubmed. La liste des pathologies concernées par cette bibliographie 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 bibliographies 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, theinformations tool about neuromuscular diseases.

Sommaire par maladies / diseases

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases ... 3

Amyotrophies bulbospinales – Bulbospinal amyotrophies ... 4

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ... 4

Amyotrophie spinale avec détresse respiratoire type 1 (SMARD1) – Spinal muscular atrophy with respiratory distress type 1 ... 8

Anoctaminopathies – Anoctaminopathies ... 8

Canalopathies musculaires – Muscular channelopathies... 8

Dystrophies musculaires congénitales – Congenital muscular dystrophies ... 9

Collagénopathies – Collagenopathies... 10

Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies ... 11

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 11

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 18

Dyneinopathies – Dyneinopathies ... 19

Dystroglycanopathies – Dystroglycanopathies ... 20

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 21 Dystrophies myotoniques – Myotonic dystrophies ... 21

Laminopathies – Laminopathies ... 23

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ... 23

Myasthénie autoimmune – Myasthenia gravis ... 24

Myopathies congénitales – Congenital myopathies ... 31

Myopathies liées à GNE – GNE myopathies ... 33

Myopathies inflammatoires – Inflammatory myopathies ... 34

Maladie de Pompe – Pompe disease ... 41

Myopathies métaboliques – Metabolic myopathies ... 42

Myopathies mitochondriales – Mitochondrial myopathies ... 42

Myotonies congénitales – Congenital myotonia ... 44

Titinopathies – Titinopathies ... 44

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ... 44

Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ... 45

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 45

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 46

Divers – Miscellaneous ... 52

Sommaire par spécialités / specialties

Anatomopathologie – Anatomical pathology ... 54

Cardiologie – Cardiology ... 56

Électromyographie – Electromyography ... 57

Gastroentérologie / Nutrition – Gastroenterology / Nutrition ... 58

Imagerie médicale – Medical imaging ... 58

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 59

Nephrologie – Nephrology ... 63

Ophtalmologie – Ophthalmology ... 63

Pneumologie – Pulmonogy ... 64

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

COVID-19 et maladies neuromusculaires – COVID-19 and neuromuscular diseases

Observational Study

1. Int J Environ Res Public Health. 2021 Aug 26;18(17):8967. doi: 10.3390/ijerph18178967.

Is It Possible to Have Home E-Monitoring of Pulmonary Function in Our Patients with Duchenne Muscular Dystrophy in the COVID-19 Pandemic?-A One Center Pilot Study

Eliza Wasilewska¹, Agnieszka Sobierajska-Rek², Sylwia Małgorzewicz³, Mateusz Soliński⁴, Dominika Szalewska², Ewa Jassem¹

• ¹Department of Allergology and Pulmonology, Medical University of Gdańsk, 80-210 Gdańsk, Poland.

• ²Department of Rehabilitation Medicine, Medical University of Gdansk, 80-210 Gdańsk, Poland.

• ³Department of Clinical Nutrition, Medical University of Gdansk, 80-210 Gdańsk, Poland.

• ⁴Faculty of Physics, Warsaw University of Technology, 00-661 Warszawa, Poland.

• PMID: 34501557

• PMCID: PMC8430665

• DOI: 10.3390/ijerph18178967

Keywords: AioCare; COVID-19; Duchenne muscular dystrophy; digital health; e-monitoring of pulmonary function; home monitoring; home monitoring pulmonary function; pulmonary function test; rare diseases; spirometry.

2. Res Sq. 2021 Sep 16;rs.3.rs-885603. doi: 10.21203/rs.3.rs-885603/v1. Preprint

Social and Clinical Impact of COVID-19 on Patients with Fibrodysplasia Ossificans Progressiva Samuel Kou, Sammi Kile, Sai Samhith Kambampati, Evelyn C Brady, Hayley Wallace, Carlos M De Sousa, Kin Cheung, Lauren Dickey, Kelly L Wentworth, Edward Hsiao

• PMID: 34545360

• DOI: 10.21203/rs.3.rs-885603/v1

3. Rheumatol Adv Pract. 2021 Sep 13;5(3):rkab058. doi: 10.1093/rap/rkab058. eCollection 2021.

A survey to understand the feelings towards and impact of COVID-19 on the households of juvenile dermato myositis patients from a parent or carer perspective

Meredyth Grace Llewellyn Wilkinson^{1 2 3}, Wing Wu², Kathryn O'Brien^{1 2}, Claire T Deakin^{1 2 3}, Lucy R Wedderburn^{1 2 3}, Polly Livermore^{1 2 3}

• ¹Infection, Immunity and Inflammation Programme Research and Teaching Department, UCL Great Ormond Street Institute of Child Health.

• ²Centre for Adolescent Rheumatology Versus Arthritis at UCL, UCLH and GOSH, University College London.

• ³NIHR Biomedical Research Centre at GOSH, London, UK.

• PMID: 34541451

• DOI: 10.1093/rap/rkab058

Keywords: COVID-19; JDM; feelings; impact; information; juvenile dermatomyositis; medication; rheumatology; sources.

4. Curr Opin Rheumatol. 2021 Sep 9. doi: 10.1097/BOR.0000000000000844. Online ahead of print.

Environmental triggers for connective tissue disease: the case of COVID-19 associated with dermatomyositis-specific autoantibodies

Maria De Santis¹, Natasa Isailovic, Francesca Motta, Caterina Ricordi, Angela Ceribelli, Ezio Lanza, Elena Azzolini, Salvatore Badalamenti, Antonio Voza, Carlo Selmi

• ¹Department of Rheumatology and Clinical Immunology, Humanitas Clinical and Research Center - IRCCS Department of Biomedical Sciences, Humanitas University Department of Radiology Department of Medical Direction Department of Nephrology Emergency Department, Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy.

• PMID: 34506341

• DOI: 10.1097/BOR.0000000000000844

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Amyotrophies bulbospinales – Bulbospinal amyotrophies

5. Front Neurol. 2021 Sep 1;12:704788. doi: 10.3389/fneur.2021.704788. eCollection 2021.

Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy

Dae-Won Gwak¹, Seung-Hwan Jung¹, Yu-Sun Min¹, Jin-Sung Park², Hee-Jin Cho², Donghwi Park³, Min Woo Hong⁴, Min-Gu Kang⁴

• ¹Department of Rehabilitation Medicine, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, South Korea.

• ²Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu, South Korea.

• ³Department of Physical Medicine and Rehabilitation, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, South Korea.

• ⁴Department of Physical Medicine and Rehabilitation, Dong-A University College of Medicine, Dong-A University Hospital, Busan, South Korea.

• PMID: 34539553

Keywords: bulbo-spinal atrophy X-linked; deglutition disorders; motor neuron disease; neurodegenerative diseases;

tongue.

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA)

6. Ann Clin Transl Neurol. 2021 Sep 21. doi: 10.1002/acn3.51459. Online ahead of print.

The need for evidence-based treatment decisions in spinal muscular atrophy type 0 Yasemin Erbas¹, Nicole Gusset¹

• ¹SMA Europe, Freiburg, Germany.

• PMID: 34546649

• DOI: 10.1002/acn3.51459

Reply to: The need for evidence-based treatment decisions in spinal muscular atrophy type 0

Eugenio Mercuri^{1 2}, Eloisa Tiberi³, Simonetta Costa³, Marika Pane^{1 2}, Francesca Priolo³, Domenico Romeo², Roberto de Sanctis¹, Danilo Tiziano⁴, Giorgio Conti⁵, Giovanni Vento³

• ¹Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

• ²Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

• ³Neonatology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

• ⁴Institute of Genetics, Università Cattolica del Sacro Cuore, Rome, Italy.

• ⁵Pediatric Intensive Care Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

• PMID: 34546660

• DOI: 10.1002/acn3.51458

8. Med Lett Drugs Ther. 2021 Jul 26;63(1629):e1-e2.

In brief: Risdiplam (Evrysdi) for spinal muscular atrophy No authors listed

• PMID: 34544108

Keywords: Evrysdi; Nusinersen; Spinraza; Zolgensma; abeparvovec; adverse effects; dosage; efficacy; onasemnogene;

risdiplam; safety; spinal muscular atrophy.

9. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Online ahead of print.

SMA-miRs: miR-181a-5p, -324-5p, -451a are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

Emanuela Abiusi¹, Paola Infante², Cinzia Cagnoli³, Ludovica Lospinoso Severini⁴, Marika Pane⁵, Giorgia Coratti⁵, Maria Carmela Pera⁵, Adele D'Amico⁶, Federica Diano¹, Agnese Novelli¹, Serena Spartano¹, Stefania Fiori¹, Giovanni Baranello⁷, Isabella Moroni⁸, Marina Mora⁹, Maria Barbara Pasanisi⁹, Krizia Pocino¹⁰, Loredana Le Pera¹¹, Davide D'Amico¹², Lorena Travaglini⁶, Francesco Ria¹³, Claudio Bruno¹⁴, Denise Locatelli³, Enrico Silvio Bertini⁶, Lucia Ovidia Morandi⁹, Eugenio Mercuri⁵, Lucia Di Marcotullio⁴, Francesco Danilo Tiziano¹

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ¹Department of Life Sciences and Public Health, Section of Genomic Medicine, Università cattolica del Sacro Cuore, Roma, Italy.

• ²Center For Life Nano Science@Sapienza, Istituto Italiano di Tecnologia, Roma, Italy.

• ³Clinical and Experimental Epileptology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

• ⁴Department of Molecular Medicine, Università degli Studi di Roma La Sapienza"", Roma, Italy.

• ⁵Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, roma, Italy.

• ⁶Unit of Neuromuscular and Neurodegenerative Disorders, Dept. Neurosciences, Bambino Gesu' Children's Hospital IRCCS, Roma, Italy.

• ⁷Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

• ⁸Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

• ⁹Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, milano, Italy.

• ¹⁰Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.

• ¹¹Bioenergetics and Molecular Biotechnologies (IBIOM), CNR-Institute of Biomembranes, Bari, Italy.

• ¹²Amazentis SA, EPFL Innovation Park, Losanne, Switzerland.

• ¹³Department of Translational Medicine and Surgery, Section of General Pathology, Università Cattolica del Sacro Cuore, roma, Italy.

• ¹⁴Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.

• PMID: 34542403

Keywords: genetics; genomics; human; medicine; mouse.

10. Lancet Neurol. 2021 Oct;20(10):777-779. doi: 10.1016/S1474-4422(21)00291-X.

Buying time for infants with spinal muscular atrophy Ludo van der Pol¹

• ¹Department of Neurology and Neurosurgery, University Medical Center Utrecht Brain Center, 3584CX Utrecht, Netherlands. Electronic address: w.l.vanderpol@umcutrecht.nl.

• PMID: 34536396

• DOI: 10.1016/S1474-4422(21)00291-X

Comment in Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial. Mercuri E, Muntoni F, Baranello G, Masson R, Boespflug-Tanguy O, Bruno C, Corti S, Daron A, Deconinck N, Servais L, Straub V, Ouyang H, Chand D, Tauscher- Wisniewski S, Mendonca N, Lavrov A; STR1VE-EU study group.Lancet Neurol. 2021 Oct;20(10):832-841. doi:

10.1016/S1474-4422(21)00251-9.PMID: 34536405

Comment

11. Lancet Neurol. 2021 Oct;20(10):832-841. doi: 10.1016/S1474-4422(21)00251-9.

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Eugenio Mercuri¹, Francesco Muntoni², Giovanni Baranello³, Riccardo Masson⁴, Odile Boespflug-Tanguy⁵, Claudio Bruno⁶, Stefania Corti⁷, Aurore Daron⁸, Nicolas Deconinck⁹, Laurent Servais¹⁰, Volker Straub¹¹, Haojun

Ouyang¹², Deepa Chand¹³, Sitra Tauscher-Wisniewski¹², Nuno Mendonca¹⁴, Arseniy Lavrov¹⁵, STR1VE-EU study group

• STR1VE-EU study group:

A Seferian, S De Lucia, S Tachibana, A Jollet, S Mouffak, M Pedemonte, N Brolatti, S Morando, A Vanlander, E De Vos, V Tahon, A Govoni, F Magri, G Comi, M Foa, V Parente, L Buscemi, F Dal Farra, O Schneider, A Jonas, A C Defeldre, E Pagliano, R Zanin, M T Arnoldi, V Schembri, M Del Sole, A Mandelli, M C Pera, L Antonaci, G Coratti, R de Sanctis, M Pane, M Scoto, K Groves, L Edel, F Abel, H Van Ruiten, R M Lofra, E Thompson

• ¹Paediatric Neurology Unit and Nemo Clinical Centre, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Department of Child Neurology and Psychiatry, Catholic University, Rome, Italy. Electronic address: eumercuri@gmail.com.

• ²Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, London, UK;

Great Ormond Street Hospital Trust, London, UK.

• ³Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK;

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

• ⁴Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁵I-Motion, Institut de Myologie, AP-HP Hopital Trousseau, Paris, France; Université de Paris, UMR 1141, Paris, France.

• ⁶Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

• ⁷Department of Pathophysiology and Transplantation, Dino Ferrari Centre, University of Milan, Milan, Italy;

Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

• ⁸Department of Pediatrics, Centre Hospitalier Universitaire de Liège, Liège, Belgium.

• ⁹Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent, Belgium; Neuromuscular Reference Center, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

• ¹⁰I-Motion, Institut de Myologie, AP-HP Hopital Trousseau, Paris, France; Neuromuscular Reference Center, CHU de Liège, Hôpital de La Citadelle, Liège, Belgium; Department of Paediatrics, MDUK Oxford Neuromuscular Center, University of Oxford, Oxford, UK.

• ¹¹John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

• ¹²Novartis Gene Therapies, Bannockburn, IL, USA.

• ¹³Novartis Gene Therapies, Bannockburn, IL, USA; Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, MO, USA.

• ¹⁴Novartis Gene Therapies, Porto, Portugal.

• ¹⁵Novartis Gene Therapies, Cambridge, UK.

• PMID: 34536405

• DOI: 10.1016/S1474-4422(21)00251-9

Comment on Buying time for infants with spinal muscular atrophy. van der Pol L.Lancet Neurol. 2021 Oct;20(10):777-779.

doi: 10.1016/S1474-4422(21)00291-X.PMID: 34536396 No abstract available.

12. Biol Open. 2021 Sep 16;bio.058551. doi: 10.1242/bio.058551. Online ahead of print.

Orally administered branaplam does not impact neurogenesis in juvenile mice, rats, and dogs Diethilde Theil¹, Reginald Valdez², Katy Darribat¹, Arno Doelemeyer¹, Rajeev Sivasankaran², Andreas Hartmann¹

• ¹Novartis Institutes for Biomedical Research, Basel, Switzerland.

• ²Novartis Institutes for Biomedical Research, Cambridge, MA, USA.

• PMID: 34528068

• DOI: 10.1242/bio.058551

Keywords: Dog; Imaging; Immunohistochemistry; Mouse; Neurogenesis; Rat.

13. Chimia (Aarau). 2021 Aug 25;75(7):614-619. doi: 10.2533/chimia.2021.614.

Contribution to the Discovery of a Novel Medicine for a Neuromuscular Disease and of other Promising Molecules for the Treatment of Neurodevelopmental and Neurodegenerative Diseases

Hasane Ratni¹

• ¹Roche Pharmaceutical Research and Early Development (pRED), Roche Innovation Center Basel, Medicinal Chemistry Department, 124 Grenzacherstrasse, B 92 /6.76, CH-4070 Basel, Switzerland;, Email:

hasane.ratni@roche.com.

• PMID: 34523402

• DOI: 10.2533/chimia.2021.614

Published Erratum

14. BMC Neurol. 2021 Sep 13;21(1):354. doi: 10.1186/s12883-021-02307-4.

Correction to: Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study

Tina Duong¹, Jessica Braid², Hannah Staunton³, Aurelie Barriere⁴, Fani Petridis⁵, Johannes Reithinger⁵, Rosangel Cruz⁶, Jill Jarecki⁶, Mencia De Lemus^{7 8}, Nicole Gusset^{7 9}, Ria Broekgaarden^{7 10}, Sharan Randhawa¹¹, Jessica Flynn¹¹, Rob Arbuckle¹¹, Sonia Reif¹², Lida Yang¹², Angela De Martini¹², Carole Vuillerot^{4 13}

• ¹Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.

• ²Roche Products Limited, Welwyn Garden City, UK. Jessica.Braid@roche.com.

• ³Roche Products Limited, Welwyn Garden City, UK.

• ⁴Department of Pediatric Physical Medicine and Rehabilitation, Hôpital Mère Enfant, CHU-Lyon, Lyon University, Lyon, France.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁵F. Hoffmann-La Roche Ltd, Basel, Switzerland.

• ⁶CureSMA, Elk Grove Village, IL, USA.

• ⁷SMA Europe Freiburg, Freiburg, Germany.

• ⁸FundAME, Madrid, Spain.

• ⁹SMA Schweiz, Swiss Patient Organisation for Spinal Muscular Atrophy, Heimberg, Switzerland.

• ¹⁰SMA Europe and Vereniging Spierziekten Nederland, Baarn, The Netherlands.

• ¹¹Adelphi Values, Patient-Centered Outcomes, Adelphi Mill, Bollington, Cheshire, UK.

• ¹²Charles River Associates Inc, Zurich, Switzerland.

• ¹³Neuromyogen Institute, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Lyon, France.

• PMID: 34517827

• DOI: 10.1186/s12883-021-02307-4

Erratum for Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study.

Duong T, Braid J, Staunton H, Barriere A, Petridis F, Reithinger J, Cruz R, Jarecki J, De Lemus M, Gusset N, Broekgaarden R, Randhawa S, Flynn J, Arbuckle R, Reif S, Yang L, De Martini A, Vuillerot C.BMC Neurol. 2021 Mar 31;21(1):143. doi: 10.1186/s12883-021-02166-z.PMID: 33789607

MYOBASE link : https://www.myobase.org/index.php?lvl=notice_display&id=72368

Case Reports

15. Acta Cytol. 2021 Aug 17;1-6. doi: 10.1159/000518005. Online ahead of print.

Cytochemical Characterization of Cerebrospinal Fluid Macrophage Inclusions in Pediatric Patients Receiving Intrathecal Nusinersen (SPINRAZA®) for Spinal Muscular Atrophy

Kristian T Schafernak¹, Jeffrey R Jacobsen¹, Dulce Hernandez¹, Robin D Kaye², Sylvia E Perez³

• ¹Department of Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, Arizona, USA.

• ²Department of Radiology, Phoenix Children's Hospital, Phoenix, Arizona, USA.

• ³Department of Neurobiology, Barrow Neurological Institute, Phoenix, Arizona, USA.

• PMID: 34515035

• DOI: 10.1159/000518005

Keywords: Cerebrospinal fluid; Cytology; Macrophage; Nusinersen; Spinal muscular atrophy.

16. Orphanet J Rare Dis. 2021 Sep 9;16(1):385. doi: 10.1186/s13023-021-02008-8.

Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study Mei Yao¹, Yu Xia¹, Yijie Feng¹, Ying Ma¹, Yi Hong¹, Yanyi Zhang², Jie Chen³, Changzheng Yuan⁴, Shanshan Mao⁵

• ¹Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.

• ²Department of Psychology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

• ³Centre for Global Health, Zhejiang University School of Medicine, Hangzhou, 310052, China.

• ⁴School Public Health of Zhejiang University, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.

• ⁵Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. 6307003@zju.edu.cn.

• PMID: 34503559

• DOI: 10.1186/s13023-021-02008-8

Keywords: Anxiety; DSRSC; Depression; SCARED; School-age; Spinal muscular atrophy.

17. Int J Environ Res Public Health. 2021 Aug 30;18(17):9134. doi: 10.3390/ijerph18179134.

Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints

Agnieszka Stępień¹, Ewa Gajewska², Witold Rekowski¹

• ¹Department of Rehabilitation, Józef Piłsudski University of Physical Education, Marymoncka Str., 00-968 Warszawa, Poland.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ²Department of Developmental Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego Str, 60- 355 Poznan, Poland.

• PMID: 34501722

• DOI: 10.3390/ijerph18179134

Keywords: CHOP INTEND; Hammersmith Functional Motor Scale Expanded (HFMSE); motor function; physiotherapy;

range of motion; rehabilitation; scoliosis; spinal muscular atrophy.

Amyotrophie spinale avec détresse respiratoire type 1 (SMARD1) – Spinal muscular atrophy with respiratory distress type 1

18. Mol Ther Methods Clin Dev. 2021 Aug 8;23:23-32. doi: 10.1016/j.omtm.2021.07.008. eCollection 2021 Dec 10.

Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ- Ighmpb2 ^nmd-2J

Monir Shababi^{1 2}, Caley E Smith², Sara M Ricardez Hernandez², Jose Marquez², Zayd Al Rawi², Eric Villalón², K David Farris^{1 2}, Mona O Garro-Kacher^{1 2}, Christian L Lorson^{1 2}

• ¹Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA.

• ²Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.

• PMID: 34553000

• DOI: 10.1016/j.omtm.2021.07.008

Keywords: AAV9; IGHMBP2; SMARD1; gene therapy; neurodegeneration.

Anoctaminopathies – Anoctaminopathies

19. Muscle Nerve. 2021 Sep 22. doi: 10.1002/mus.27419. Online ahead of print.

Muscle biopsy and MRI findings in ANO5-related myopathy

Sonja Holm-Yildiz¹, Nanna Witting¹, Josefine de Stricker Borch¹, Konni Kass¹, Tahmina Khawajazada¹, Thomas Krag¹, John Vissing¹

• ¹Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen.

• PMID: 34550615

• DOI: 10.1002/mus.27419

Keywords: ANO5; Anoctaminopathy; Inflammatory myopathy; LGMD2L; LGMDR12.

Canalopathies musculaires – Muscular channelopathies

20. Endocr Metab Immune Disord Drug Targets. 2021 Jul 18. Online ahead of print.

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil

Cossi Y Gbefon¹, Carla P S Sobral², Adriana Caldas², Viviane C C Rocha², Rossana S S Azulay², Gilvan C Nascimento², Sabrina S P Damianse², Silvia A S Gaspar¹, Manuel S Faria¹, Marcelo Magalhães¹

• ¹Clinical Research Center of the University Hospital of the Federal University of Maranhão (CEPEC - HUUFMA), São Luís, Brazil.

• ²Research Group in Clinical and Molecular Endocrinology and Metabology (ENDOCLIM), São Luís, Brazil.

• PMID: 34554906

• DOI: 10.2174/1871530321666210719114937

Keywords: CACNA1S; KCNJ18; SCN4A; THPP; channelopathies; thyrotoxicosis.

Case Reports

21. Rev Esp Anestesiol Reanim. 2021 Sep 17;S0034-9356(21)00130-4. Online ahead of print.

Childbirth with epidural analgesia in a pregnant woman with hypokalemic periodic paralysis [Article in English, Spanish]

J Talaván Serna¹, L Belmonte Bayo², L Gil Melgosa³, F Murciano García², S Rodríguez Martínez⁴

• ¹Servicio de Anestesiología y Reanimación, Hospital Obispo Polanco, Teruel, España. Electronic address:

jutaser@alumni.uv.es.

• ²Servicio de Anestesiología y Reanimación, Hospital Obispo Polanco, Teruel, España.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ³Servicio de Ginecología y Obstetricia, Hospital Obispo Polanco, Teruel, España.

• ⁴Servicio de Urgencias, Hospital Obispo Polanco, Teruel, España.

• PMID: 34544596

• DOI: 10.1016/j.redar.2021.02.011

Keywords: Anestesia regional; Childbirth; Embarazo; Epidural; Hipocaliemia; Hypokalemia; Paralysis; Parto; Parálisis;

Periodic; Periódica; Pregnancy; Regional anesthesia.

Dystrophies musculaires congénitales – Congenital muscular dystrophies

22. J Clin Lab Anal. 2021 Sep 16;e23930. doi: 10.1002/jcla.23930. Online ahead of print.

Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A

Afshin Khorrami¹, Pouya Goleij², Vahidreza Karamad³, Elham Taheri⁴, Behrouz Shadman³, Parisa Emami⁵, Gholamreza Jahangirzadeh⁶, Saba Hajazimian⁷, Alireza Isazadeh⁷, Behzad Baradaran⁷, Mansour Heidari⁸

• ¹Young Researchers and Elit Club, Varamin-Pishva Branch, Islamic Azad University, Varamin-Pishva, Iran.

• ²Department of Genetics, Faculty of Biology, Sana Institute of Higher Education, Sari, Iran.

• ³Department of Medical Biology, Faculty of Medicine, Ege University, Izmir, Turkey.

• ⁴Department of Pharmaceutical Biotechnology, Tabriz University of Medical Sciences, Tabriz, Iran.

• ⁵Department of Genetics, Ahar Branch, Islamic Azad University, Ahar, Iran.

• ⁶Department of Genetics, Tabriz Branch, Islamic Azad University, Tabriz, Iran.

• ⁷Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

• ⁸Department of Medical Genetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

• PMID: 34528292

• DOI: 10.1002/jcla.23930

Keywords: LAMA2 gene; congenital muscular dystrophy; mutation; whole-exome sequencing.

23. Stem Cell Res. 2021 Sep 2;56:102529. doi: 10.1016/j.scr.2021.102529. Online ahead of print.

Derivation of human pluripotent stem cell line via CRISPR/Cas9 mediated deletion of exon 3 LAMA2 gene (DMBi001-A-1)

Sarka Jelinkova¹, Alicja Martyniak¹, Józef Dulak², Jacek Stępniewski³

• ¹Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland.

• ²Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland. Electronic address: jozef.dulak@uj.edu.pl.

• ³Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, Gronostajowa 7, 30-387 Krakow, Poland. Electronic address: jacek.stepniewski@uj.edu.pl.

• PMID: 34509921

• DOI: 10.1016/j.scr.2021.102529

Case Reports

24. Front Genet. 2021 Sep 6;12:706823. doi: 10.3389/fgene.2021.706823. eCollection 2021.

Case Report: A Boy From a Consanguineous Family Diagnosed With Congenital Muscular Dystrophy Caused by Integrin Alpha 7 ( ITGA7) Mutation

Wenqing Xia^{1 2}, Zhumei Ni¹, Zheng Zhang¹, Hongfei Sang^{1 2}, Huifang Liu³, Zhenzhen Chen^{1 4}, Lin Jiang^{1 2}, Congguo Yin^{1 2}, Jinyu Huang^{1 5}, Lingfei Li^{1 2}, Xiaoguang Lei⁶

• ¹The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou, China.

• ²Department of Neurology, Hangzhou First People's Hospital, Hangzhou, China.

• ³Division of Neurology, Department of Medicine, University of Hong Kong, Hong Kong, SAR China.

• ⁴Department of Hematology, Affiliated Hangzhou First People's Hospital, Zhejiang University, Hangzhou, China.

• ⁵Department of Cardiology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

• ⁶Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.

• PMID: 34552617

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• DOI: 10.3389/fgene.2021.706823

Keywords: a consanguineous family; congenital muscular dystrophy; genetic consultation; integrin alpha 7; rare genetic mutation.

25. Sci Rep. 2021 Sep 13;11(1):18161. doi: 10.1038/s41598-021-97294-4.

Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy

Evrim Aksu-Menges¹, Cemil Can Eylem², Emirhan Nemutlu², Merve Gizer³, Petek Korkusuz⁴, Haluk Topaloglu^{5 6}, Beril Talim⁷, Burcu Balci-Hayta⁸

• ¹Department of Medical Biology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ²Department of Analytical Chemistry, Faculty of Pharmacy, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ³Department of Stem Cell Sciences, Graduate School of Health Sciences, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ⁴Department of Histology and Embryology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ⁵Department of Pediatrics, Division of Child Neurology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ⁶Department of Pediatrics, Yeditepe University, Istanbul, Turkey.

• ⁷Department of Pediatrics, Pathology Unit, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

• ⁸Department of Medical Biology, Faculty of Medicine, Hacettepe University, 06100, Sihhiye, Ankara, Turkey.

burcub@hacettepe.edu.tr.

• PMID: 34518586

• DOI: 10.1038/s41598-021-97294-4

Collagénopathies – Collagenopathies

26. Blood Adv. 2021 Sep 21;bloodadvances.2020002671. Online ahead of print.

Ablation of Collagen VI leads to the release of platelets with altered function

Vittorio Abbonante¹, Cristian Gruppi¹, Monica Battiston², Alessandra Zulian³, Christian Andrea Di Buduo¹, Martina Chrisam⁴, Lucia Sereni⁵, Pierre-Alexandre Laurent⁶, Claudio Semplicini⁷, Elisabetta Lombardi⁸, Mario

Mazzucato⁹, Francesco Moccia¹, Valeria Petronili¹⁰, Anna Villa¹¹, Luca Bello⁷, Elena Pegoraro⁷, Paolo Bernardi⁷, Paola Braghetta¹², Luigi De Marco⁹, Paolo Bonaldo⁷, Alessandra Balduini¹

• ¹University of Pavia, Pavia, Italy.

• ²Centro di Riferimento Oncologico, AVIANO, PN, Italy.

• ³University of Padova, Thiene, Italy.

• ⁴University of Padova.

• ⁵San Raffaele Telethon Institute for Gene Therapy, Milano, Italy.

• ⁶University of Pavia, PAVIA, Italy.

• ⁷University of Padova, Padova, Italy.

• ⁸CRO IRCCS-Aviano, Aviano, PN, Italy.

• ⁹C.R.O.-I.R.C.C.S., Pordenone, PN, Italy.

• ¹⁰CNR - Institute of Neuroscience and University of Padova, PADOVA, Italy.

• ¹¹San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.

• ¹²University of Padova, Padova, Arizona, Italy.

• PMID: 34547769

• DOI: 10.1182/bloodadvances.2020002671

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Dystrophies musculaires d’Emery-Dreifuss – Emery-Dreifuss muscular dystrophies

Case Reports

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Daniel G Calame^{1 2 3}, Jawid M Fatih³, Isabella Herman^{1 2 3}, Zeynep Coban-Akdemir³, Haowei Du³, Tadahiro Mitani³, Shalini N Jhangiani⁴, Dana Marafi^{3 5}, Richard A Gibbs^{3 4}, Jennifer E Posey³, Vidya P Mehta⁶, Carrie A Mohila⁶, Farida Abid^{1 2}, Timothy E Lotze^{1 2}, Davut Pehlivan^{1 2 3}, Adekunle M Adesina⁶, James R Lupski^{2 3 4 7}

• ¹Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.

• ²Texas Children's Hospital, Houston, Texas, 77030, USA.

• ³Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.

• ⁴Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.

• ⁵Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, 13110, Kuwait.

• ⁶Department of Pathology, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, 77030, USA.

• ⁷Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA.

• PMID: 34524739

• DOI: 10.1002/acn3.51454

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

28. Hum Gene Ther. 2021 Sep;32(17-18):872-874. doi: 10.1089/hum.2021.29179.ddu.

A Cautiously Optimistic Outlook of a Designer Therapy for 1% of Duchenne Muscular Dystrophy Patients

Dongsheng Duan^{1 2 3 4}

• ¹Department of Molecular Microbiology and Immunology, University of Missouri, Columbia, Missouri, USA.

• ²Department of Neurology, School of Medicine, University of Missouri, Columbia, Missouri, USA.

• ³Department of Biomedical Sciences, College of Veterinary Medicine, University of Missouri, Columbia, Missouri, USA.

• ⁴Department of Biomedical, Biological and Chemical Engineering, College of Engineering, University of Missouri, Columbia, Missouri, USA.

• PMID: 34554886

• DOI: 10.1089/hum.2021.29179.ddu

29. Br J Pharmacol. 2021 Sep 22. doi: 10.1111/bph.15678. Online ahead of print.

A new therapeutic effect of fenofibrate in Duchenne muscular dystrophy: The promotion of myostatin degradation

Zeren Sun¹, Dengqiu Xu¹, Lei Zhao², Xihua Li², Sijia Li¹, Xiaofei Huang¹, Chunjie Li¹, Lixin Sun¹, Bing Liu³, Zhenzhou Jiang^{1 4}, Luyong Zhang^{1 3}

• ¹Jiangsu Key Laboratory of Drug Screening, Key Laboratory of Drug Quality Control and Pharmacovigilance, Jiangsu Key Laboratory of Druggability of Biopharmaceuticals, China Pharmaceutical University, Nanjing, China.

• ²Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.

• ³Center for Drug Research and Development, Guangdong Pharmaceutical University, Guangzhou, China.

• ⁴State Key Laboratory of Natural Medicines, China Pharmaceutical University, Nanjing, China.

• PMID: 34553378

• DOI: 10.1111/bph.15678

Keywords: Duchenne muscular dystrophy; Fenofibrate; myostatin.

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n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021) Review

30. Pflugers Arch. 2021 Sep 22. doi: 10.1007/s00424-021-02623-1. Online ahead of print.

Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy

Kay Ohlendieck^{1 2}, Dieter Swandulla³

• ¹Department of Biology, Maynooth University, National University of Ireland, Co. Kildare, Maynooth, W23F2H6, Ireland. kay.ohlendieck@mu.ie.

• ²Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Co. Kildare, Maynooth, W23F2H6, Ireland. kay.ohlendieck@mu.ie.

• ³Institute of Physiology, University of Bonn, 53115, Bonn, Germany. swandulla@uni-bonn.de.

• PMID: 34553265

• DOI: 10.1007/s00424-021-02623-1

Keywords: Duchenne muscular dystrophy; Dystrophin; Fibrosis; Inflammation; Muscle degeneration; Organ crosstalk.

31. PLoS One. 2021 Sep 22;16(9):e0257164. doi: 10.1371/journal.pone.0257164. eCollection 2021.

The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies

Veronica J Vieland^{1 2 3}, Sang-Cheol Seok¹

• ¹Battelle Center for Mathematical Medicine, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, United States of America.

• ²Department of Pediatrics, The Ohio State University, Columbus, OH, United States of America.

• ³Department of Statistics, The Ohio State University, Columbus, OH, United States of America.

• PMID: 34550985

• DOI: 10.1371/journal.pone.0257164

32. J Bone Miner Metab. 2021 Sep 22. doi: 10.1007/s00774-021-01270-x. Online ahead of print.

Articular cartilage degeneration and bone adaptation due to lack of dystrophin in mice José Fontes Dos Santos¹, Mariana Cruz Lazzarin¹, Vivianne Izabelle de Araújo Baptista¹, Hananiah Tardivo Quintana¹, Daniel Araki Ribeiro¹, Flavia de Oliveira²

• ¹Departamento de Biociências, Universidade Federal de São Paulo (UNIFESP), Rua Silva Jardim, 136 Lab 328, CEP: 11015-020, Santos, SP, 11060-001, Brazil.

• ²Departamento de Biociências, Universidade Federal de São Paulo (UNIFESP), Rua Silva Jardim, 136 Lab 328, CEP: 11015-020, Santos, SP, 11060-001, Brazil. flavia.oliveira@unifesp.br.

• PMID: 34549313

• DOI: 10.1007/s00774-021-01270-x

Keywords: Articular cartilage; Bone; Collagen; Duchenne muscular dystrophy; MDX mice.

33. Dis Model Mech. 2021 Sep 1;14(9):dmm049028. doi: 10.1242/dmm.049028. Epub 2021 Sep 21.

Emotional behavior and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy Amel Saoudi^{1 2}, Faouzi Zarrouki¹, Catherine Sebrié³, Charlotte Izabelle¹, Aurélie Goyenvalle², Cyrille Vaillend¹

• ¹Université Paris-Saclay, CNRS, Institut des Neurosciences Paris Saclay, 91190, Gif-sur-Yvette, France.

• ²Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000 Versailles, France.

• ³Université Paris-Saclay, CEA, CNRS, Inserm, BioMaps, Service Hospitalier Frédéric Joliot, 4 place du général Leclerc, 91401 Orsay, France.

• PMID: 34546327

• DOI: 10.1242/dmm.049028

Keywords: Anxiety; Brain dystrophins; DMD mouse model; Duchenne muscular dystrophy; Fear conditioning; Intellectual disability.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-09-2 du 10 au 23 sept 2021 (September 10 to 23, 2021) 34. J Neuromuscul Dis. 2021;8(5):865-866. doi: 10.3233/JND-219005.

Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020

N P Whitehead¹, M J Kim, K L Bible¹, M E Adams¹, S C Froehner¹

• ¹University of Washington, Seattle, Washington, USA.

• PMID: 34542082

• DOI: 10.3233/JND-219005

MYOBASE link for original article: https://www.myobase.org/index.php?lvl=notice_display&id=71535

35. J Neuromuscul Dis. 2021;8(5):867-868. doi: 10.3233/JND-219004.

Author's Response to: Rebuttal to: Simvastatin Treatment Does Not Ameliorate Muscle Pathophysiology in a Mouse Model for Duchenne Muscular Dystrophy, Verhaart et al. 2020 Annemieke Aartsma-Rus¹, Ingrid Verhaart¹, Dominic Wells²

• ¹Leiden University Medical Center, Leiden, the Netherlands.

• ²Royal Veterinary College London, UK.

• PMID: 34542081

• DOI: 10.3233/JND-219004

MYOBASE link for original article: https://www.myobase.org/index.php?lvl=notice_display&id=71535

36. Front Neurol. 2021 Sep 3;12:707837. doi: 10.3389/fneur.2021.707837. eCollection 2021.

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants Freja Fornander¹, Tuva Åsatun Solheim¹, Anne-Sofie Vibæk Eisum¹, Nanna Scharff Poulsen¹, Annarita Ghosh Andersen¹, Julia Rebecka Dahlqvist¹, Morten Dunø², John Vissing¹

• ¹Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

• ²Department of Clinical Genetics, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

• PMID: 34539555

• DOI: 10.3389/fneur.2021.707837

Keywords: Dixon MRI; dynamometry; dystrophinopathy; female carriers; muscle fat infiltration; muscle strength.

37. Chest. 2021 Sep 15;S0012-3692(21)03855-1. doi: 10.1016/j.chest.2021.08.078. Online ahead of print.

Characterizing Expiratory Respiratory Muscle Degeneration in Duchenne Muscular Dystrophy Using Magnetic Resonance Imaging

Alison M Barnard¹, Donovan J Lott¹, Abhinandan Batra², William T Triplett¹, Rebecca J Willcocks¹, Sean C Forbes¹, William D Rooney³, Michael J Daniels⁴, Barbara K Smith¹, Krista Vandenborne¹, Glenn A Walter⁵

• ¹Department of Physical Therapy, University of Florida, Gainesville, FL.

• ²Louisiana State University Health Sciences Center, New Orleans, LA. Author was in the Department of Physical Therapy at the University of Florida during the conduct of this study.

• ³Advanced Imaging Research Center, Oregon Health & Science University, Portland, OR.

• ⁴Department of Statistics, University of Florida, Gainesville, FL.

• ⁵Department of Physiology and Functional Genomics, University of Florida, Gainesville, FL. Electronic address:

glennw@ufl.edu.

• PMID: 34536384

• DOI: 10.1016/j.chest.2021.08.078

Keywords: Duchenne muscular dystrophy; MRI; airway clearance; cough; expiratory muscles.

38. Biomark Med. 2021 Sep 17. doi: 10.2217/bmm-2021-0222. Online ahead of print.

Safety and disease monitoring biomarkers in Duchenne muscular dystrophy: results from a Phase II trial

Kathryn R Wagner¹, Michaela Guglieri², Shashi K Ramaiah³, Lawrence Charnas³, Shannon Marraffino³, Michael Binks³, Vishal S Vaidya³, Jeffrey Palmer³, Richard Goldstein³, Francesco Muntoni⁴

• ¹Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Departments of Neurology & Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.

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• ²The John Walton Muscular Dystrophy Research Centre, Newcastle University & Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

• ³Pfizer Inc, Cambridge, MA 02139, USA.

• ⁴NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.

• PMID: 34533053

• DOI: 10.2217/bmm-2021-0222

Keywords: Duchenne muscular dystrophy; biomarker; cardiac troponin I; drug-induced liver injury; glutamate dehydrogenase.

39. Eur J Transl Myol. 2021 Sep 17;31(3). doi: 10.4081/ejtm.2021.10012.

A revised model for mitochondrial dysfunction in Duchenne muscular dystrophy Ai Vu Hong¹, Mathilde Sanson², Isabelle Richard³, David Israeli⁴

• ¹Genethon, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR- S951, Evry. avuhong@genethon.fr.

• ²Genethon, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR- S951, Evry. mathildesanson199@gmail.com.

• ³Genethon, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR- S951, Evry. richard@genethon.fr.

• ⁴Genethon, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR- S951, Evry. israeli@genethon.fr.

• PMID: 34533019

• DOI: 10.4081/ejtm.2021.10012

40. J Endocrinol Invest. 2021 Sep 15. doi: 10.1007/s40618-021-01676-4. Online ahead of print.

Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates

Antonino Catalano^{# 1}, Gian Luca Vita^{# 2}, Federica Bellone³, Maria Sframeli^{3 2}, Maria Grazia Distefano³, Matteo La Rosa³, Agostino Gaudio⁴, Giuseppe Vita^{3 2}, Nunziata Morabito³, Sonia Messina^{3 2}

• ¹Department of Clinical and Experimental Medicine, A.O.U. Policlinico "G. Martino", University of Messina, Via C.

Valeria, 98125, Messina, Italy. catalanoa@unime.it.

• ²Nemo Sud Clinical Centre for Neuromuscular Disorders, Aurora Onlus Foundation, University Hospital "G.

Martino", Messina, Italy.

• ³Department of Clinical and Experimental Medicine, A.O.U. Policlinico "G. Martino", University of Messina, Via C.

Valeria, 98125, Messina, Italy.

• ⁴Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

• PMID: 34524678

• DOI: 10.1007/s40618-021-01676-4

Keywords: Bone mineral density; Bone turnover; Duchenne muscular dystrophy; Forced vital capacity; Fractures;

Glucocorticoid; Left ventricular ejection fraction; Sclerostin.

41. Sci Rep. 2021 Sep 14;11(1):18188. doi: 10.1038/s41598-021-97730-5.

Duchenne muscular dystrophy cell culture models created by CRISPR/Cas9 gene editing and their application in drug screening

Patricia Soblechero-Martín^{1 2}, Edurne Albiasu-Arteta¹, Aina Anton-Martinez¹, Laura de la Puente-Ovejero¹, Iker Garcia- Jimenez¹, Gabriela González-Iglesias¹, Irene Larrañaga-Aiestaran¹, Andrea López-Martínez¹, Javier Poyatos-

García³, Estíbaliz Ruiz-Del-Yerro¹, Federico Gonzalez⁴, Virginia Arechavala-Gomeza^{5 6}

• ¹Neuromuscular Disorders, Biocruces Bizkaia Health Research Institute, 48903, Barakaldo, Bizkaia, Spain.

• ²Osakidetza Basque Health Service, Bilbao-Basurto Integrated Health Organisation, Basurto University Hospital, Clinical Laboratory Service, Bilbao, Spain.

• ³La Fe Health Research Institute, Hospital La Fe, Valencia, Spain.

• ⁴Pluripotent Stem Cells and Activation of Endogenous Tissue Programs for Organ Regeneration (PR Lab), Institute for Bioengineering of Catalonia (IBEC), Barcelona, Spain.

• ⁵Neuromuscular Disorders, Biocruces Bizkaia Health Research Institute, 48903, Barakaldo, Bizkaia, Spain.

virginia.arechavalagomeza@osakidetza.eus.

• ⁶Basque Foundation for Science, Bilbao, Spain. virginia.arechavalagomeza@osakidetza.eus.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• PMID: 34521928

• DOI: 10.1038/s41598-021-97730-5

42. Sci Adv. 2021 Sep 10;7(37):eabi8787. doi: 10.1126/sciadv.abi8787. Epub 2021 Sep 10.

Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections

Amaia Paredes-Redondo^{1 2 3}, Peter Harley⁴, Eleni Maniati⁵, David Ryan⁶, Sandra Louzada⁶, Jinhong Meng⁷, Anna Kowala^{1 2 3}, Beiyuan Fu⁶, Fengtang Yang⁶, Pentao Liu⁸, Silvia Marino¹, Olivier Pourquié⁹, Francesco Muntoni^{7 10}, Jun Wang⁵, Ivo Lieberam⁴, Yung-Yao Lin^{1 2 3}

• ¹Centre for Genomics and Child Health, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK.

• ²Stem Cell Laboratory, National Bowel Research Centre, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 2 Newark Street, London E1 2AT, UK.

• ³Centre for Predictive in vitro Model, Queen Mary University of London, Mile End Road, London E1 4NS, UK.

• ⁴Centre for Stem Cells and Regenerative Medicine, MRC Centre for Neurodevelopmental Disorders, and Centre for Developmental Neurobiology, King's College London, London, UK.

• ⁵Centre for Cancer Genomics and Computational Biology, Barts Cancer Institute, Queen Mary University of London, London, UK.

• ⁶Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

• ⁷UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

• ⁸School of Biomedical Sciences, Stem Cell and Regenerative Medicine Consortium, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.

• ⁹Department of Genetics and Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 60 Fenwood Road, Boston, MA, USA.

• ¹⁰NIHR Biomedical Research Centre, Great Ormond Street Hospital, Great Ormond Street, London, UK.

• PMID: 34516770

• DOI: 10.1126/sciadv.abi8787

43. J Neuromuscul Dis. 2021 Sep 7. doi: 10.3233/JND-210678. Online ahead of print.

Gene Therapy for Duchenne Muscular Dystrophy Nertiyan Elangkovan¹, George Dickson¹

• ¹Centres for Gene & Cell Therapy and Biomedical Sciences, Department of Biological Sciences, School of Life &

Environmental Sciences, Royal Holloway - University of London, Surrey, TW20 0EX, UK.

• PMID: 34511510

• DOI: 10.3233/JND-210678

Keywords: Gene therapy; adeno-associated virus; antisense; duchenne; dystrophin; exon skipping; microdystrophin;

muscular dystrophy.

44. J Neuromuscul Dis. 2021 Sep 7. doi: 10.3233/JND-200609. Online ahead of print.

Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy

R Quinlivan¹, B Messer², P Murphy³, R Astin¹, R Mukherjee⁴, J Khan¹, A Emmanuel¹, S C Wong⁵, R Kulshresha⁶, T Willis⁶, J Pattni¹, D Willis⁷, A Morgan⁸, K Savvatis^{1 9}, R Keen¹⁰, J Bourke², C Marini Bettolo², C

Hewamadduma¹¹, ANSN

• ¹MRC Centre for Neuromuscular disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

• ²Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle, UK.

• ³Lane Fox Unit, Guy's and St Thomas' Foundation Trust, London, UK.

• ⁴Heart of England NHS Foundation Trust, Birmingham, UK.

• ⁵University of Glasgow, Royal Hospital for Children, Glasgow, UK.

• ⁶Robert Jones and Agnes Hunt Foundation NHS Trust, Oswestry, UK.

• ⁷Shrewsbury and Telford NHS Trust, Shropshire, UK.

• ⁸Southmead NHS Foundation Trust, Bristol, UK.

(16)

Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁹St Bartholomew's Hospital and Royal London NHS Trust, London UK.

• ¹⁰Royal National Orthopaedic Hospital, Stanmore, UK.

• ¹¹Academic Neurology Department, Sheffield Teaching Hospitals Foundation Trust and Sheffield Institute for Translational Neurosciences (SITRAN), University of Sheffield, UK.

• PMID: 34511509

• DOI: 10.3233/JND-200609

Keywords: Duchenne muscular dystrophy; multi-disciplinary care; non-invasive ventilation.

45. Mol Ther. 2021 Sep 9;S1525-0016(21)00458-5. doi: 10.1016/j.ymthe.2021.09.003. Online ahead of print.

Full-length Dystrophin Restoration via Targeted Genomic Integration by AAV-CRISPR in a Humanized Mouse Model of Duchenne Muscular Dystrophy

Adrian Pickar-Oliver¹, Veronica Gough¹, Joel D Bohning¹, Siyan Liu², Jacqueline N Robinson-Hamm³, Heather Daniels¹, William H Majoros⁴, Garth Devlin⁵, Aravind Asokan⁶, Charles A Gersbach⁷

• ¹Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA; Center for Genomic and Computational Biology, Duke University, Durham, NC 27708, USA.

• ²Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA; Center for Genomic and Computational Biology, Duke University, Durham, NC 27708, USA; Graduate Program in Computational Biology and Bioinformatics, Duke University, Durham, NC 27708, USA.

• ³Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA; Center for Genomic and Computational Biology, Duke University, Durham, NC 27708, USA.

• ⁴Center for Genomic and Computational Biology, Duke University, Durham, NC 27708, USA; Center for Statistical Genetics and Genomics, Duke University, Durham, NC 27708, USA; Division of Integrative Genomics,

Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC 27710, USA.

• ⁵Department of Surgery, Duke University School of Medicine, Durham, NC 27710, USA.

• ⁶Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA; Department of Surgery, Duke University School of Medicine, Durham, NC 27710, USA; Regeneration Next Initiative, Duke University, Durham, NC 27710, USA.

• ⁷Department of Biomedical Engineering, Duke University, Durham, NC 27708, USA; Center for Advanced Genomic Technologies, Duke University, Durham, NC 27708, USA; Center for Genomic and Computational Biology, Duke University, Durham, NC 27708, USA; Graduate Program in Computational Biology and Bioinformatics, Duke University, Durham, NC 27708, USA; Department of Surgery, Duke University School of Medicine, Durham, NC 27710, USA; Regeneration Next Initiative, Duke University, Durham, NC 27710, USA;

Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA. Electronic address:

charles.gersbach@duke.edu.

• PMID: 34509668

• DOI: 10.1016/j.ymthe.2021.09.003

46. Health Sociol Rev. 2021 Sep 10;1-16. doi: 10.1080/14461242.2021.1975555. Online ahead of print.

A posthuman decentring of person-centred care

Barbara E Gibson¹, Joanna K Fadyl², Gareth Terry², Kate Waterworth², Donya Mosleh³, Nicola M Kayes²

• ¹Department of Physical Therapy, University of Toronto and Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada.

• ²Centre for Person Centred Research, Auckland University of Technology, Auckland, New Zealand.

• ³Rehabilitation Sciences Institute, University of Toronto, Toronto, ON, Canada.

• PMID: 34506255

• DOI: 10.1080/14461242.2021.1975555

Keywords: Deleuze; Person-centred care; disability; muscular dystrophy.