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° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 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

Amyotrophie spinale proximale liée à SMN1 – SMN1-related spinal muscular atrophy (SMA) ... 3

Canalopathies musculaires – Muscular channelopathies... 7

Dystrophies musculaires congénitales – Congenital muscular dystrophies ... 7

Collagénopathies – Collagenopathies... 8

Dystrophinopathies, dystrophie musculaire de Duchenne, dystrophie musculaire de Becker – Dystrophinopathies ... 8

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies ... 16

Dysferlinopathies – Dysferlinopathies ... 17

Dystroglycanopathies – Dystroglycanopathies ... 17

Dystrophie musculaire facioscapulohumérale – Facioscapulohumeral muscular dystrophy (FSHD) 18 Dystrophies myotoniques – Myotonic dystrophies ... 19

Fibrodysplasie ossifiante progressive (FOP) – Fibrodysplasia ossificans progressiva ... 20

Laminopathies – Laminopathies ... 21

Maladie de Charcot-Marie-Tooth – Charcot-Marie-Tooth disease ... 22

Myasthénie autoimmune – Myasthenia gravis ... 25

Myopathies congénitales – Congenital myopathies ... 31

Myopathies liées à GNE – GNE myopathies ... 32

Myopathies inflammatoires – Inflammatory myopathies ... 32

Maladie de Pompe – Pompe disease ... 42

Myopathies métaboliques – Metabolic myopathies ... 43

Lipidoses musculaires – Lipid myopathies ... 43

Myopathies mitochondriales – Mitochondrial myopathies ... 44

Myopathies myofibrillaires – Myofibrillar myopathies... 45

Titinopathies – Titinopathies ... 46

Syndromes myasthéniques congénitaux – Congenital myasthenic syndrome ... 46

Syndrome de Lambert-Eaton – Lambert-eaton myasthenic syndrome ... 46

Dystrophies musculaires (plusieurs pathologies) – Muscular dystrophies (Multiple) ... 46

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Maladies neuromusculaires (plusieurs pathologies) – Neuromuscular diseases (Multiple) ... 47

Divers – Miscellaneous ... 51

Sommaire par spécialités / specialties

Anatomopathologie – Anatomical pathology ... 54

Cardiologie – Cardiology ... 54

Douleur – Pain ... 58

Électromyographie – Electromyography ... 58

Gastroentérologie / Nutrition – Gastroenterology / Nutrition ... 58

Imagerie médicale – Medical imaging ... 59

Médecine physique et de réadaptation – Physical and rehabilitation medicine ... 62

Ophtalmologie – Ophthalmology ... 63

Pneumologie – Pulmonogy ... 63

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

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

1. Bone. 2021 Dec 8;155:116287. doi: 10.1016/j.bone.2021.116287. Online ahead of print.

Extensive progressive heterotopic ossification post-Covid-19 in a man

María Lorena Brance¹, Nicolás M Cóccaro², Araceli N Casalongue³, Ariel Durán³, Lucas R Brun⁴

• ¹Bone Biology Laboratory, School of Medicine, Rosario National University, Argentina; Reumatología y Enfermedades Óseas Rosario, Argentina; National Council of Scientific and Technical Research (CONICET), Argentina. Electronic address: laboratorio@biologiaosea.com.ar.

• ²Department of Image, Sanatorio Británico, Rosario, Argentina.

• ³Physical, Sanatorio de Neurorehabilitación, Rosario, Argentina.

• ⁴Bone Biology Laboratory, School of Medicine, Rosario National University, Argentina; National Council of Scientific and Technical Research (CONICET), Argentina. Electronic address: lbrun@unr.edu.ar.

• PMID: 34896358

• PMCID: PMC8653400

• DOI: 10.1016/j.bone.2021.116287

Keywords: COVID-19; Heterotopic ossification; SARS-CoV-2.

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

2. Pharmacoeconomics. 2021 Dec 15. doi: 10.1007/s40273-021-01115-5. Online ahead of print.

Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers

C Simone Sutherland¹, Pollyanna Hudson², Stephen Mitchell², Noman Paracha³

• ¹F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124 Building 001/OG13, CH 4070, Basel, Switzerland.

simone.sutherland@roche.com.

• ²Mtech Access Limited, Bicester, Oxfordshire, UK.

• ³F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124 Building 001/OG13, CH 4070, Basel, Switzerland.

• PMID: 34907515

• DOI: 10.1007/s40273-021-01115-5

3. J Med Econ. 2021 Nov;24(sup1):51-59. doi: 10.1080/13696998.2021.2013676.

Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada

Guanmin Chen^{1 2}, Behnam Sharif¹, Brittany Gerber¹, Megan S Farris¹, Tara Cowling¹, Czerysh Cabalteja³, Jennifer W Wu³, Bridget Maturi³, Kristoph Klein-Panneton³, Jean K Mah⁴

• ¹Medlior Health Outcomes Research Ltd., Calgary, Alberta, Canada.

• ²Libin Cardiovascular Institute, University of Calgary, Calgary, Alberta, Canada.

• ³Hoffmann-La Roche Limited, Mississauga, Ontario, Canada.

• ⁴Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

• PMID: 34906030

• DOI: 10.1080/13696998.2021.2013676

Keywords: I; I1; I10; Spinal muscular atrophy; Z; Z00; cost-of-illness; epidemiology; health services research;

4. Pharmacoeconomics. 2021 Dec 13. doi: 10.1007/s40273-021-01118-2. Online ahead of print.

Patient and Caregiver Treatment Preferences in Type 2 and Non-ambulatory Type 3 Spinal Muscular Atrophy: A Discrete Choice Experiment Survey in Five European Countries

Siu Hing Lo¹, Claire Lawrence², Yasmina Martí³, Andreia Café⁴, Andrew J Lloyd²

• ¹Acaster Lloyd Consulting Ltd, London, UK. siuhing.lo@acasterlloyd.com.

• ²Acaster Lloyd Consulting Ltd, London, UK.

• ³F. Hoffmann-La Roche Ltd, Basel, Switzerland.

• ⁴F. Hoffmann-La Roche Ltd, Amadora, Portugal.

• PMID: 34897574

• DOI: 10.1007/s40273-021-01118-2

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 5. J Neurol Sci. 2021 Nov 25;432:120059. doi: 10.1016/j.jns.2021.120059. Online ahead of print.

Development of the SMA independence scale-upper limb module (SMAIS-ULM): A novel scale for individuals with Type 2 and non-ambulant Type 3 SMA

Dylan Trundell¹, Anne Skalicky², Hannah Staunton³, Asha Hareendran⁴, Stephanie Le Scouiller⁵, Louise Barrett⁶, Owen Cooper⁷, Ksenija Gorni⁸, Tim Seabrook⁹, Sangeeta Jethwa¹⁰, Stefan Cano¹¹

• ¹Roche Products Ltd, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK. Electronic address: dylan.trundell@roche.com.

• ²Evidera, Broderick Building, 615 2nd Ave., Suite 500, Seattle, WA 98104, USA. Electronic address:

anne.skalicky@evidera.com.

• ³Roche Products Ltd, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK. Electronic address: hannah.staunton@roche.com.

• ⁴Evidera, The Ark, 201 Talgarth Rd, Hammersmith, London, W6 8BJ, UK. Electronic address:

asha.hareendran@evidera.com.

• ⁵Roche Products Ltd, Hexagon Place, 6 Falcon Way, Shire Park, Welwyn Garden City, AL7 1TW, UK. Electronic address: stephanie.le_scouiller@roche.com.

• ⁶Modus Outcomes, Suite 210b, Spirella Building, Letchworth Garden City, SG6 4ET, UK. Electronic address:

louise.barrett@modusoutcomes.com.

• ⁷Evidera, The Ark, 201 Talgarth Rd, Hammersmith, London, W6 8BJ, UK. Electronic address:

owen.cooper@evidera.com.

• ⁸PDMA Neuroscience and Rare Disease, F. Hoffmann-La Roche Ltd, 4070 Basel, Switzerland. Electronic address: ksenija.gorni@roche.com.

• ⁹Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.

Electronic address: seabrooktim@hotmail.com.

• ¹⁰Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.

Electronic address: sangeeta.jethwa@gmail.com.

• ¹¹Modus Outcomes, Suite 210b, Spirella Building, Letchworth Garden City, SG6 4ET, UK. Electronic address:

stefan.cano@modusoutcomes.com.

• PMID: 34896922

• DOI: 10.1016/j.jns.2021.120059

Keywords: Observer-reported outcomes; Patient-reported outcomes; Psychometrics; Qualitative methods; Rasch measurement theory; Spinal muscular atrophy.

6. RNA. 2021 Dec 10;rna.078329.120. doi: 10.1261/rna.078329.120. Online ahead of print.

Splicing efficiency of minor introns in a mouse model of SMA predominantly depends on their branchpoint sequence and can involve the contribution of major spliceosome components Valentin Jacquier¹, Manon Prevot¹, Thierry Gostan¹, Remy Bordonne¹, Sofia Benkhelifa-Ziyyat², Martine Barkats², Johann Soret³

• ¹Institut de Genetique Moleculaire de Montpellier, Univ Montpellier, CNRS, Montpellier, France.

• ²Centre de Recherche en Myologie (CRM), Institut de Myologie, Sorbonne Universites, UPMC Univ Paris 06, Inserm UMRS974, GH Pitie Salpetriere, Paris 75013, France.

• ³Institut de Genetique Moleculaire de Montpellier, Univ Montpellier, CNRS, Montpellier, France.;

johann.soret@igmm.cnrs.fr.

• PMID: 34893560

• DOI: 10.1261/rna.078329.120

Keywords: SMA; SMN; branchpoint sequence; major spliceosome; minor splicing.

7. Hum Mol Genet. 2021 Dec 9;ddab350. doi: 10.1093/hmg/ddab350. Online ahead of print.

Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model

Jia Wang¹, Jinli Bai¹, Shijia OuYang¹, Hong Wang¹, Yuwei Jin¹, Xiaoyin Peng², Xiushan Ge², Hui Jiao², Jizhen Zou³, Cai He³, Ping Xiao³, Fang Song¹, Yujin Qu¹

• ¹Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.

• ²Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.

• ³Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.

• PMID: 34888619

• DOI: 10.1093/hmg/ddab350

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

8. J Clin Med. 2021 Nov 26;10(23):5540. doi: 10.3390/jcm10235540.

Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I

Andrada Mirea^{1 2}, Elena-Silvia Shelby², Mihaela Axente^{1 2}, Mihaela Badina^{1 2}, Liliana Padure², Madalina Leanca², Vlad Dima³, Corina Sporea^{1 2}

• ¹Faculty of Midwifery and Nursing, University of Medicine and Pharmacy "Carol Davila", 37 Dionisie Lupu Street, 020021 Bucharest, Romania.

• ²Scientific Research Nucleus, National University Center for Children Neurorehabilitation "Dr. Nicolae Robanescu", 44 Dumitru Minca Street, 041408 Bucharest, Romania.

• ³Clinical Hospital of Obstetrics and Gynecology "Filantropia", 11 Ion Mihalache Avenue, 011132 Bucharest, Romania.

• PMID: 34884240

• DOI: 10.3390/jcm10235540

Keywords: combined modifying therapy; early treatment; motor evolution; nusinersen; onasemnogene abeparvovec-xioi;

spinal muscular atrophy; ventilation improvement.

9. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:46-77. doi: 10.1051/medsci/2021194. Epub 2021 Dec 8.

[Intellectual skills and speech abilities in children with SMA type 1]

[Article in French]

Christian Réveillère¹

• ¹AFM-Téléthon, Évry, France - Centre de Référence Maladies Neuromusculaires, CHU Henri Mondor, Créteil, France - Université de Tours, France.

• PMID: 34878396

• DOI: 10.1051/medsci/2021194

Article in MYOBASE : https://www.myobase.org/index.php?lvl=notice_display&id=73902

[Fusionless spine instrumentations in neuromuscular scoliosis]

[Article in French]

Étienne Saudeau¹

• ¹Service de Pédiatrie, CHU Raymond Poincaré, Garches, France.

• PMID: 34878393

• DOI: 10.1051/medsci/2021189

[The SMA France national registry: already encouraging results]

[Article in French]

Margaux Lemoine¹, Marta Gomez², Lamiae Grimaldi¹, J Andoni Urtizberea³, Susana Quijano-Roy⁴

• ¹URC APHP Paris-Saclay, France.

• ²Centre de Référence des Maladies Neuromusculaires, Filnemus, Université Paris Saclay, Garches, France - European Reference Center Network (Euro NMD ERN).

• ³European Reference Center Network (Euro NMD ERN).

• ⁴Institut de Myologie, Paris, France.

• PMID: 34878390

• DOI: 10.1051/medsci/2021187

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 12. Gene. 2021 Dec 3;811:146109. doi: 10.1016/j.gene.2021.146109. Online ahead of print.

Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC

M A Maretina¹, K R Valetdinova², N A Tsyganova¹, A A Egorova¹, V S Ovechkina³, H B Schiöth⁴, S M Zakian⁵, V S Baranov¹, A V Kiselev⁶

• ¹D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.

• ²The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia.

• ³The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Novosibirsk State University, 630090 Novosibirsk, Russia.

• ⁴Department of Neuroscience, Functional Pharmacology, Uppsala University, S-75124 Uppsala, Sweden;

Sechenov First Moscow State Medical University, 119991 Moscow, Russia.

• ⁵The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Meshalkin National Medical Research Center, Ministry of Healthcare of the Russian Federation, 630055 Novosibirsk, Russia.

• ⁶D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.

Electronic address: ankiselev@yahoo.co.uk.

• PMID: 34871761

• DOI: 10.1016/j.gene.2021.146109

Keywords: DNA methylation; Genetic modifier; Neuronal differentiation; SMN; Spinal muscular atrophy; iPSC.

13. Acta Anaesthesiol Scand. 2021 Dec 6. doi: 10.1111/aas.14011. Online ahead of print.

Anaesthetic considerations in posterior instrumentation of scoliosis due to spinal muscular atrophy:

Case series of 56 operated patients

Johannes G Förster¹, Dietrich Schlenzka², Heikki Österman², Mikko Pitkänen¹

• ¹Department of Anaesthesia, Orthopaedic Hospital Orton, Helsinki, Finland.

• ²Department of Orthopaedic Surgery, Orthopaedic Hospital Orton, Helsinki, Finland.

• PMID: 34870844

• DOI: 10.1111/aas.14011

Keywords: case series; general anaesthesia; hypokalemia; intubation difficulties; posterior instrumentation; postoperative complications; preoperative assessment; retrospective chart review; scoliosis surgery; spinal muscular atrophy.

Case Reports

14. Anaesth Rep. 2021 Nov 17;9(2):e12138. doi: 10.1002/anr3.12138. eCollection Jul-Dec 2021.

A case series of paediatric patients with spinal muscular atrophy type I undergoing scoliosis correction surgery

T Kong Kam Wa¹, C Holmes¹, K O'Brien¹

• ¹Department of Anaesthesiology Children's Health Ireland at Temple Street Dublin Ireland.

• PMID: 34870210

• PMCID: PMC8600129 (available on 2022-11-17)

• DOI: 10.1002/anr3.12138

Keywords: neuromuscular diseases: muscular pain; paediatrics: airway management; postoperative ventilation.

15. BMC Health Serv Res. 2021 Dec 4;21(1):1303. doi: 10.1186/s12913-021-07255-w.

The economic impact of compassionate use of medicines

Claudio Jommi¹, Federico Pantellini², Lisa Stagi², Maria Verykiou³, Marianna Cavazza³

• ¹Centre for Research on Health and Social Care Management, SDA Bocconi School of Management, CERGAS, Bocconi University, Via Sarfatti 25, 20136, Milano, MI, Italy. claudio.jommi@unibocconi.it.

• ²ROCHE Spa, Viale GB Stucchi 110, MB, 20900, Monza, Italy.

• ³Centre for Research on Health and Social Care Management, SDA Bocconi School of Management, CERGAS, Bocconi University, Via Sarfatti 25, 20136, Milano, MI, Italy.

• PMID: 34863155

• DOI: 10.1186/s12913-021-07255-w

Keywords: Compassionate Use; Economic Impact; Italy; Medicines.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

16. Mol Ther. 2021 Dec 11;S1525-0016(21)00640-7. doi: 10.1016/j.ymthe.2021.12.004. Online ahead of print.

Advanced therapeutic strategy for hereditary neuromuscular diseases Wuh-Liang Hwu¹, Shin-Ichi Muramatsu², Yin-Hsiu Chien³, Barry J Byrne⁴

• ¹Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: hwuwlntu@ntu.edu.tw.

• ²Division of Neurological Gene Therapy, Center for Open Innovation, Jichi Medical University, Tochigi, Japan.

• ³Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

• ⁴Department of Pediatrics, College of Medicine, Powell Gene Therapy Center, University of Florida, Gainesville, USA.

• PMID: 34895502

• DOI: 10.1016/j.ymthe.2021.12.004

Canalopathies musculaires – Muscular channelopathies

17. Front Genet. 2021 Nov 25;12:773177. doi: 10.3389/fgene.2021.773177. eCollection 2021.

Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome Pauline Le Tanno¹, Mathilde Folacci², Jean Revilloud², Laurence Faivre³, Gabriel Laurent⁴, Lucile Pinson^{5 6 7}, Pascal Amedro⁸, Gilles Millat⁹, Alexandre Janin⁹, Michel Vivaudou², Nathalie Roux-Buisson¹, Julien Fauré¹

• ¹Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.

• ²CEA, CNRS, Institut de Biologie Structurale, Université Grenoble Alpes, Grenoble, France.

• ³Medical Genetics Department, Dijon Bourgogne University Hospital, François Mitterand Hospital, Dijon, France.

• ⁴Cardiology Department, Dijon Bourgogne University Hospital, François Mitterand Hospital, Dijon, France.

• ⁵Medical Genetics Department, University Hospital, Montpellier, France.

• ⁶Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Montpellier, France.

• ⁷Genetic Department for Rare Diseases and Personalized Medicine, Clinical Division, Montpellier, France.

• ⁸Pediatric and Congenital Cardiology Department, Clinical Investigation Centre, PhyMedExp, CNRS, INSERM, University of Montpellier, University Hospital, Montpellier, France.

• ⁹Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.

• PMID: 34899860

• DOI: 10.3389/fgene.2021.773177

Keywords: Andersen-Tawil syndrome; KCNJ2 variants; Kir2.1 channel; Pierre Robin sequence; catecholaminergic polymorphic ventricular tachycardia; functionnal characterization.

Dystrophies musculaires congénitales – Congenital muscular dystrophies

[JAG2-related muscular dystrophy: When differential diagnosis matters]

[Article in French]

Rocio Nur Villar-Quiles¹, Norma B Romero², Stojkovic Tanya¹

• ¹Centre de référence des maladies neuromusculaires Nord/Est/Île-de-France, service de neuromyologie, APHP, Institut de Myologie, Paris, France - Sorbonne Université - Inserm, Centre de Recherche en Myologie, Paris, France.

• ²Unité de Morphologie Neuromusculaire, Institut de Myologie, APHP, Sorbonne Université, Paris, France.

• PMID: 34878394

• DOI: 10.1051/medsci/2021191

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

Collagénopathies – Collagenopathies

19. Pediatr Dermatol. 2021 Dec 9. doi: 10.1111/pde.14862. Online ahead of print.

Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy

Stephanie S Lee^{1 2}, Brian Hinds¹, Jessica Sprague^{1 2}, Victoria Regina Barrio^{1 2}, Jennifer Brescoll Mancuso^{1 3}

• ¹Department of Dermatology, University of California, San Diego, California, USA.

• ²Division of Pediatric and Adolescent Dermatology, Rady Children's Hospital, San Diego, California, USA.

• ³Department of Dermatology, University of Michigan, Ann Arbor, Michigan, USA.

• PMID: 34888914

• DOI: 10.1111/pde.14862

Keywords: Bethlem myopathy; collagen diseases; connective tissue disorders; muscular dystrophies; skin signs of systemic disease.

20. Front Cell Dev Biol. 2021 Nov 23;9:790341. doi: 10.3389/fcell.2021.790341. eCollection 2021.

Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice

Aya Harada¹, Megumi Goto¹, Atsuya Kato¹, Nana Takenaka-Ninagawa¹, Akito Tanaka¹, Satoru Noguchi², Makoto Ikeya¹, Hidetoshi Sakurai¹

• ¹Department of Clinical Application, Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan.

• ²Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

• PMID: 34888314

• DOI: 10.3389/fcell.2021.790341

Keywords: COL6-related myopathy; iPS cell; mesenchymal stromal cells; systemic cell transplantation; ullrich congenital muscular dystrophy (UCMD).

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

21. Drugs Today (Barc). 2021 Dec;57(12):707-717. doi: 10.1358/dot.2021.57.12.3352740.

Casimersen for Duchenne muscular dystrophy H Wilton-Clark¹, T Yokota^{2 3}

• ¹Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.

• ²Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada. toshifum@ualberta.ca.

• ³The Friends of Garret Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, Alberta, Canada.

• PMID: 34909800

• DOI: 10.1358/dot.2021.57.12.3352740

Keywords: Amondys-45; Antisense therapy; Casimersen; DMD expression inhibitors; Duchenne muscular dystrophy; Exon skipping therapy; Gene therapy; Phosphorodiamidate morpholino oligomers.

22. Int J Cardiovasc Imaging. 2021 Dec 14. doi: 10.1007/s10554-021-02369-y. Online ahead of print.

Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy

Nicolas Lanot¹, Marie Vincenti^{1 2}, Hamouda Abassi^{1 2}, Charlene Bredy¹, Audrey Agullo¹, Lucie Gamon³, Thibault Mura⁴, Kathleen Lavastre¹, Gregoire De La Villeon^{1 5}, Catherine Barrea⁶, Pierre Meyer^{2 7}, François Rivier^{2 7}, Albano C Meli², Jeremy Fauconnier², Olivier Cazorla², Alain Lacampagne^{# 2}, Pascal Amedro^{# 8 9 10}

• ¹Paediatric and Adult Cardiology Department, M3C Regional Reference CHD Center, CHU Montpellier, Montpellier, France.

• ²PhyMedExp, University of Montpellier, CNRS, INSERM, CHU Montpellier, Montpellier, France.

• ³Epidemiology and Clinical Research Department, CHU Montpellier, Montpellier, France.

• ⁴Epidemiology and Clinical Research Department, CHU Nimes, Nimes, France.

• ⁵Paediatric Cardiology and Rehabilitation Unit, Saint-Pierre Institute, Palavas-Les-Flots, France.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

• ⁶Paediatric and Congenital Cardiology Department, Cliniques Universitaires Saint-Luc, UCL University, Brussels, Belgium.

• ⁷Paediatric Neurology, National Reference Center for Neuromuscular Diseases, CHU Montpellier, Montpellier, France.

• ⁸Department of Paediatric and Adult Congenital Cardiology, M3C National Reference Centre, Bordeaux University Hospital, Haut Lévêque Hospital, Avenue de Magellan, 33604, Pessac Cedex, France. pascal.amedro@chu- bordeaux.fr.

• ⁹University of Bordeaux, INSERM, Bordeaux Cardio-Thoracic Research Centre, U1045, Pessac, France.

pascal.amedro@chu-bordeaux.fr.

• ¹⁰IHU Liryc, Electrophysiology and Heart Modelling Institute, Fondation Bordeaux Université, Pessac, France.

pascal.amedro@chu-bordeaux.fr.

#Contributed equally.

• PMID: 34905152

• DOI: 10.1007/s10554-021-02369-y

Keywords: Cardiac dyssynchrony; DMD; Heart failure; Paediatrics; Speckle tracking.

23. RNA Biol. 2021 Dec 14;1-11. doi: 10.1080/15476286.2021.2004683. Online ahead of print.

Poly C Binding Protein 2 dependent nuclear retention of the utrophin-A mRNA in C2C12 cells Gargi Ghosh¹, Satyabrata Samui², Santanu Das³, Vandana Singh⁴, Doel Pal¹, Subhanwita Das¹, Jishu Naskar², Soumya Sinha Roy⁴, Utpal Basu¹

• ¹Department of Molecular Biology & Biotechnology, University of Kalyani, Kalyani, India.

• ²Department of Biochemistry & Biophysics, University of Kalyani, Kalyani, India.

• ³Department of Biological Sciences, Indian Institute of Science Education and Research, Kolkata, India.

• ⁴CSIR-Institute of Genomics and Integrative Biology, Delhi University Campus, New Delhi, India.

• PMID: 34904931

• DOI: 10.1080/15476286.2021.2004683

Keywords: DMD; PCBP2; follistatin; nuclear retention; utrophin-A.

24. J Physiol. 2021 Dec 14. doi: 10.1113/JP281673. Online ahead of print.

Macrophage plasticity in Duchenne muscular dystrophy: A nexus of pathological remodeling with therapeutic implications

Basil J Petrof^{1 2}

• ¹Meakins-Christie Laboratories, Translational Research in Respiratory Diseases Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

• ²Respiratory Division, Department of Medicine, McGill University, Montreal, Quebec, Canada.

• PMID: 34904234

• DOI: 10.1113/JP281673

25. Front Genet. 2021 Nov 26;12:762987. doi: 10.3389/fgene.2021.762987. eCollection 2021.

Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing

Qianqian Li¹, Zhanni Chen², Hui Xiong², Ranran Li³, Chenguang Yu⁴, Jingjing Meng¹, Panlai Shi¹, Xiangdong Kong¹

• ¹Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

• ²Genokon Institute of Medical Science and Laboratory, Xiamen, China.

• ³School of Life Science and Technology, Xinxiang Medical University, Xinxiang, China.

• ⁴Key Laboratory of Molecular Biophysics of the Ministry of Education, Cardio-X Center, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, China.

• PMID: 34899847

• DOI: 10.3389/fgene.2021.762987

Keywords: Duchenne muscular dystrophy; breakpoints; long-read whole-genome sequencing; partial exonic deletion;

whole exome sequencing.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

26. Prog Pediatr Cardiol. 2021 Dec;63:101460.

Genetic correction strategies for Duchenne Muscular Dystrophy and their impact on the heart Jamie R Johnston¹, Elizabeth M McNally¹

• ¹Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.

• PMID: 34898968

• PMCID: PMC8656413 (available on 2022-12-01)

• DOI: 10.1016/j.ppedcard.2021.101460

Keywords: Duchenne muscular dystrophy; dilated cardiomyopathy; gene therapy; genome editing; heart failure; pediatrics.

27. Ultrasound Med Biol. 2021 Dec 7;S0301-5629(21)00379-3. Online ahead of print.

Performance of Passive Muscle Stiffness in Diagnosis and Assessment of Disease Progression in Duchenne Muscular Dystrophy

Hong-Kui Yu¹, Xiao Liu², Min Pan², Jin-Wei Chen¹, Chen Liu¹, Yu Wu³, Zhi-Bin Li⁴, Hong-Ying Wang⁵

• ¹Department of Ultrasonography, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

• ²Department of Ultrasonography, Shenzhen Hospital of Guangzhou University of Chinese Medicine (Fu-tian), Shenzhen, Guangdong, China.

• ³Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

• ⁴Department of Rehabilitation, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

• ⁵Department of Ultrasonography, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: gzfe1122@163.com.

• PMID: 34893358

• DOI: 10.1016/j.ultrasmedbio.2021.09.003

Keywords: Duchenne muscular dystrophy; Elastic modulus; Elasticity imaging techniques; Muscle stretching exercise;

Musculoskeletal; Ultrasonography.

28. Disabil Rehabil. 2021 Dec 10;1-9. doi: 10.1080/09638288.2021.2008528. Online ahead of print.

A qualitative exploration of the priorities and experiences of children with Duchenne muscular dystrophy, their parents, and healthcare professionals around weight management

Meaghan Walker¹, Bhavnita Mistry¹, Reshma Amin^{2 3}, Laura McAdam^{1 2}, Daina Kalnins³, Toni Lui¹, Amy C McPherson^{1 2}

• ¹Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Canada.

• ²University of Toronto, Toronto, Canada.

• ³The Hospital for Sick Children, Toronto, Canada.

• PMID: 34889714

• DOI: 10.1080/09638288.2021.2008528

Keywords: Disability; Duchenne muscular dystrophy; children; health care; weight management.

29. Medicine (Baltimore). 2021 Dec 10;100(49):e28209. doi: 10.1097/MD.0000000000028209.

Anesthetic management with remimazolam for a pediatric patient with Duchenne muscular dystrophy Yuta Horikoshi¹, Norifumi Kuratani^{1 2}, Ken Tateno¹, Hiroshi Hoshijima^{1 3}, Tina Nakamura¹, Tsutomu Mieda¹, Katsushi Doi¹, Hiroshi Nagasaka¹

• ¹Department of Anesthesiology, Saitama Medical University Hospital, Saitama, Japan.

• ²Department of Anesthesia, Saitama Children's Medical Center, Saitama, Japan.

• ³Division of Dento-oral Anesthesiology, Tohoku University Graduate School of Dentistry, Miyagi, Japan.

• PMID: 34889305

• DOI: 10.1097/MD.0000000000028209

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n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 30. Front Neurol. 2021 Nov 23;12:720282. doi: 10.3389/fneur.2021.720282. eCollection 2021.

Autonomic Modulation in Duchenne Muscular Dystrophy During a Computer Task: A Prospective Transversal Controlled Trial Assessment by Non-linear Techniques

Mayra Priscila Boscolo Alvarez¹, Carlos Bandeira de Mello Monteiro^{1 2}, Talita Dias da Silva^{1 3 4}, Vitor E Valenti⁵, Celso Ferreira-Filho³, Annette Sterr⁶, Luiz Carlos Marques Vanderlei⁵, Celso Ferreira³, David M Garner⁷

• ¹Programa de Pós-Graduação em Ciências da Reabilitação, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

• ²Escola de Artes, Ciências e Humanidades da Universidade de São Paulo (EACH/USP), São Paulo, Brazil.

• ³Departamento de Medicina (Cardiologia), Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil.

• ⁴Faculdade de Medicina, Universidade Cidade de São Paulo (UNICID), São Paulo, Brazil.

• ⁵Department of Studies on the Autonomic Nervous System, Faculty of Science and Technology, Universidade Estadual Paulista "Júlio de Mesquita Filho" (UNESP), São Paulo, Brazil.

• ⁶School of Psychology, University of Surrey, Guildford, United Kingdom.

• ⁷Cardiorespiratory Research Group, Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom.

• PMID: 34887825

• DOI: 10.3389/fneur.2021.720282

Keywords: Chaotic Global Techniques; Duchenne Muscular Dystrophy; autonomic nervous system; health care technology; heart rate variability.

31. J Am Coll Cardiol. 2021 Dec 14;78(24):2439-2453. doi: 10.1016/j.jacc.2021.10.014.

Stabilizing Ryanodine Receptors Improves Left Ventricular Function in Juvenile Dogs With Duchenne Muscular Dystrophy

Olivier Cazorla¹, Inès Barthélémy², Jin Bo Su², Albano C Meli³, Valérie Chetboul², Valérie Scheuermann³, Vassiliky Gouni², Camille Anglerot³, Sylvain Richard³, Stéphane Blot², Bijan Ghaleh², Alain Lacampagne⁴

• ¹Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France. Electronic address:

olivier.cazorla@inserm.fr.

• ²Univ Paris Est Creteil, INSERM, IMRB, Creteil, France; EnvA, IMRB, Maisons-Alfort, France.

• ³Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France.

• ⁴Phymedexp INSERM, CNRS, Université de Montpellier, CHRU Montpellier, France. Electronic address:

alain.lacampagne@inserm.fr.

• PMID: 34886965

• DOI: 10.1016/j.jacc.2021.10.014

Keywords: contractile proteins; heart failure; left ventricular dysfunction; length dependent activation; myofilament properties; transmural heterogeneity.

Comment in Ryanodine Receptors Matter for Cardiac Function in Duchenne Muscular Dystrophy: Stability First. Kupatt C, Bozoglu T.J Am Coll Cardiol. 2021 Dec 14;78(24):2454-2456. doi: 10.1016/j.jacc.2021.10.012.PMID: 34886966

Editorial

32. J Am Coll Cardiol. 2021 Dec 14;78(24):2454-2456. doi: 10.1016/j.jacc.2021.10.012.

Ryanodine Receptors Matter for Cardiac Function in Duchenne Muscular Dystrophy: Stability First Christian Kupatt¹, Tarik Bozoglu²

• ¹Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, and DZHK (German Center for Cardiovascular Research), Munich Heart Alliance, Munich, Germany. Electronic address:

christian.kupatt@tum.de.

• ²Klinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, and DZHK (German Center for Cardiovascular Research), Munich Heart Alliance, Munich, Germany.

• PMID: 34886966

• DOI: 10.1016/j.jacc.2021.10.012

Keywords: ARM036; DMD; arrhythmias; calcium; ryanodine.

Comment on : Stabilizing Ryanodine Receptors Improves Left Ventricular Function in Juvenile Dogs With Duchenne Muscular Dystrophy. Cazorla O, Barthélémy I, Su JB, Meli AC, Chetboul V, Scheuermann V, Gouni V, Anglerot C, Richard S, Blot S, Ghaleh B, Lacampagne A.J Am Coll Cardiol. 2021 Dec 14;78(24):2439-2453. doi:

10.1016/j.jacc.2021.10.014.PMID: 34886965

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n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 33. Int J Mol Sci. 2021 Dec 2;22(23):13065. doi: 10.3390/ijms222313065.

A Dystrophin Exon-52 Deleted Miniature Pig Model of Duchenne Muscular Dystrophy and Evaluation of Exon Skipping

Yusuke Echigoya^{1 2}, Nhu Trieu^{1 3}, William Duddy⁴, Hong M Moulton⁵, HaiFang Yin⁶, Terence A Partridge⁷, Eric P Hoffman⁸, Joe N Kornegay⁹, Frank A Rohret¹⁰, Christopher S Rogers¹⁰, Toshifumi Yokota¹

• ¹Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.

• ²Laboratory of Biomedical Science, Department of Veterinary Medicine, College of Bioresource Sciences, Nihon University, Kanagawa 252-0880, Japan.

• ³Microscopy & Microanalysis Facility, University of New Brunswick, Fredericton, NB E3A 5A3, Canada.

• ⁴Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Londonderry BT47 6SB, UK.

• ⁵Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR 97331, USA.

• ⁶Department of Cell Biology, School of Medical Technology, Tianjin Medical University, Qixiangtai Road, Heping District, Tianjin 300070, China.

• ⁷Research Center for Genetic Medicine, Children's National Medical Center, Department of Integrative Systems Biology, George Washington University School of Medicine, Washington, DC 20010, USA.

• ⁸School of Pharmacy and Pharmaceutical Sciences, Binghamton University, State University of New York, Binghamton, NY 13902, USA.

• ⁹College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, USA.

• ¹⁰Precigen Exemplar, 2656 Crosspark Rd. STE 100, Coralville, IA 52241, USA.

• PMID: 34884867

• DOI: 10.3390/ijms222313065

Keywords: DMD; antisense oligonucleotide; dystrophin; exon skipping; large animal model; morpholino; pig model.

34. Int J Mol Sci. 2021 Nov 30;22(23):12985. doi: 10.3390/ijms222312985.

Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients

Pierre Meyer^{1 2}, Cécile Notarnicola¹, Albano C Meli¹, Stefan Matecki¹, Gérald Hugon¹, Jérémy Salvador¹, Mirna Khalil³, Léonard Féasson⁴, Claude Cances^{5 6}, Jérôme Cottalorda⁷, Isabelle Desguerre⁸, Jean-Marie Cuisset⁹, Pascal Sabouraud¹⁰, Alain Lacampagne¹, Hugues Chevassus³, François Rivier^{1 2}, Gilles Carnac¹

• ¹PhyMedExp, University of Montpellier, Inserm, CNRS, 34295 Montpellier, France.

• ²Reference Centre for Neuromuscular Diseases AOC, Clinical Investigation Centre, Pediatric Neurology Department, Montpellier University Hospital, 34000 Montpellier, France.

• ³Clinical Investigation Center, Montpellier University Hospital, 34000 Montpellier, France.

• ⁴Myology Unit, Reference Center for Neuromuscular Diseases Euro-NmD, Inter-University Laboratory of Human Movement Sciences-EA7424, University Hospital of Saint-Etienne, 42055 Saint-Etienne, France.

• ⁵Reference Center for Neuromuscular Diseases AOC, Pediatric Neurology Department, Toulouse University Hospital, 3100 Toulouse, France.

• ⁶Pediatric Clinical Research Unit, Pediatric Multi-thematic Module CIC 1436, Toulouse Children's Hospital, 31300 Toulouse, France.

• ⁷Pediatric Orthopedic and Plastic Surgery Department, Montpellier University Hospital, 34295 Montpellier, France.

• ⁸Reference Center for Neuromuscular Diseases Paris Nord-Ile-de-France-Est, Pediatric Neurology Department, Necker Enfant Malades University Hospital, Assistance Publique des Hôpitaux de Paris Centre, Paris University, 75019 Paris, France.

• ⁹Reference Center for Neuromuscular Diseases Nord-Ile-de-France-Est, Pediatric Neurology Department, Lille University Hospital, 59000 Lille, France.

• ¹⁰Reference Center for Neuromuscular Diseases Nord-Ile-de-France-Est, Pediatric Neurology Department, Reims University Hospital, 51100 Reims, France.

• PMID: 34884796

• DOI: 10.3390/ijms222312985

Keywords: Duchenne muscular dystrophy; endomysial fibrosis; human; myogenesis; ryanodine receptor.

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n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 35. Int J Mol Sci. 2021 Nov 23;22(23):12617. doi: 10.3390/ijms222312617.

Natural History of a Mouse Model Overexpressing the Dp71 Dystrophin Isoform

Kenji Rowel Q Lim¹, Md Nur Ahad Shah¹, Stanley Woo¹, Harry Wilton-Clark¹, Pavel Zhabyeyev², Faqi Wang², Rika Maruyama¹, Gavin Y Oudit^{2 3}, Toshifumi Yokota^{1 4}

• ¹Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.

• ²Department of Medicine, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2G3, Canada.

• ³Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB T6G 2B7, Canada.

• ⁴Muscular Dystrophy Canada Research Chair, Edmonton, AB T6G 2H7, Canada.

• PMID: 34884423

• DOI: 10.3390/ijms222312617

Keywords: Dp71; Duchenne muscular dystrophy; WT mice; cardiac dysfunction; del52; dystrophic animal model;

dystrophin; hDMDdel52 mice.

Review

36. Exp Cell Res. 2021 Dec 7;410(2):112968. doi: 10.1016/j.yexcr.2021.112968. Online ahead of print.

Therapeutic approaches to preserve the musculature in Duchenne Muscular Dystrophy: The importance of the secondary therapies

Giuseppe Angelini¹, Giada Mura¹, Graziella Messina²

• ¹Department of Biosciences, University of Milan, Via Celoria 26, 20133, Milan, Italy.

• ²Department of Biosciences, University of Milan, Via Celoria 26, 20133, Milan, Italy. Electronic address:

graziella.messina@unimi.it.

• PMID: 34883113

• DOI: 10.1016/j.yexcr.2021.112968

Keywords: Muscle protection; Muscular Dystrophies; Nanocarriers; Nutrigenomics; Secondary therapies.

37. Nat Rev Neurol. 2021 Dec 8. doi: 10.1038/s41582-021-00601-w. Online ahead of print.

Evidence for altered astrocyte function in Duchenne muscular dystrophy Heather Wood¹

• ¹Nature Reviews Neurology, . nrneuro@nature.com.

• PMID: 34880471

• DOI: 10.1038/s41582-021-00601-w

38. Nat Commun. 2021 Dec 8;12(1):7101. doi: 10.1038/s41467-021-26714-w.

Low immunogenicity of LNP allows repeated administrations of CRISPR-Cas9 mRNA into skeletal muscle in mice

Eriya Kenjo^{1 2}, Hiroyuki Hozumi^{1 2}, Yukimasa Makita^{1 2}, Kumiko A Iwabuchi^{2 3}, Naoko Fujimoto^{2 3}, Satoru

Matsumoto^{2 4}, Maya Kimura⁵, Yuichiro Amano⁵, Masataka Ifuku^{2 3}, Youichi Naoe^{2 3}, Naoto Inukai^{1 2}, Akitsu Hotta^{6 7}

• ¹T-CiRA Discovery, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-chome, Fujisawa, Kanagawa, 251-8555, Japan.

• ²Takeda-CiRA Joint Program, Fujisawa, Kanagawa, Japan.

• ³Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan.

• ⁴Drug Product Development, Pharmaceutical Sciences, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2-chome, Fujisawa, Kanagawa, 251-8555, Japan.

• ⁵Drug Safety Research and Evaluation, Takeda Pharmaceutical Company Limited, 26-1, Muraoka-Higashi 2- chome, Fujisawa, Kanagawa, 251-8555, Japan.

• ⁶Takeda-CiRA Joint Program, Fujisawa, Kanagawa, Japan. akitsu.hotta@cira.kyoto-u.ac.jp.

• ⁷Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, 606-8507, Japan. akitsu.hotta@cira.kyoto-u.ac.jp.

• PMID: 34880218

• DOI: 10.1038/s41467-021-26714-w

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[Automatic extraction of vertebral landmarks from ultrasound images]

[Article in French]

Arnaud Brignol¹, Farida Cheriet², Catherine Laporte¹

• ¹École de Technologie Supérieure, Montréal, Canada - CHU Sainte-Justine, Montréal, Canada.

• ²CHU Sainte-Justine, Montréal, Canada - École Polytechnique Montréal, Canada.

• PMID: 34878389

• DOI: 10.1051/medsci/2021186

Review

40. Muscle Nerve. 2021 Dec 8. doi: 10.1002/mus.27463. Online ahead of print.

The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review

Shelagh M Szabo¹, Katherine L Gooch², Alexis T Mickle¹, Renna M Salhany², Anne M Connolly³

• ¹Broadstreet Heath Economics & Outcomes Research, Vancouver, British Columbia, Canada.

• ²Sarepta Therapeutics, Inc, Cambridge, Massachusetts, USA.

• ³Division of Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, USA.

• PMID: 34878187

• DOI: 10.1002/mus.27463

Keywords: Duchenne muscular dystrophy; exon skipping; genotype; natural history; pathogenic variants.

41. CPT Pharmacometrics Syst Pharmacol. 2021 Dec 8. doi: 10.1002/psp4.12753. Online ahead of print.

Development of a Model-based Clinical Trial Simulation Platform to Optimize the Design of Clinical Trials for Duchenne Muscular Dystrophy

Karthik Lingineni¹, Varun Aggarwal², Juan Francisco Morales¹, Daniela J Conrado³, Diane Corey², Camille

Vong^{4 5}, Jackson Burton², Jane Larkindale², Klaus Romero², Stephan Schmidt¹, Sarah Kim¹, Cooperative International Neuromuscular Research Group investigators, Duchenne Regulatory Science Consortium members

• ¹Center for Pharmacometrics and Systems Pharmacology, Department of Pharmaceutics, College of Pharmacy, University of Florida, Orlando, FL, USA.

• ²Critical Path Institute, Tucson, AZ, USA.

• ³e Quantify LLC, La Jolla, CA, USA.

• ⁴Global Product Development, Pfizer Inc, Cambridge, MA, USA.

• ⁵Novartis Pharma AG, Basel, Switzerland.

• PMID: 34877803

• DOI: 10.1002/psp4.12753

Keywords: Clinical trial simulation; Disease progression; Drug development tools; Duchenne muscular dystrophy; Model- informed drug development; Rare diseases; Regulatory endorsement.

42. J Physiol. 2021 Dec 7. doi: 10.1113/JP282558. Online ahead of print.

A 'virtual' revolution: non-invasive methods to probe skeletal muscle metabolism in Duchenne muscular dystrophy

Claire Traversa¹, Sarkis J Hannaian¹

• ¹Department of Kinesiology and Physical Education, McGill University, Montreal, QC, Canada.

• PMID: 34877686

• DOI: 10.1113/JP282558

Keywords: muscle protein synthesis; proteomics; skeletal muscle mass.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 43. Intractable Rare Dis Res. 2021 Nov;10(4):269-275. doi: 10.5582/irdr.2021.01097.

Alteration of skeletal and cardiac muscles function in DBA/2J mdx mice background: a focus on high intensity interval training

Narjes Baati¹, Nathalie Mougenot², Mégane Lemaitre³, Marine Kirsch¹, Onnik Agbulut⁴, Arnaud Ferry³, Damien Vitiello^{1 4}

• ¹Institute of Sport and Health Sciences of Paris - URP3625, Université de Paris, Paris, France.

• ²Sorbonne Universités, PECMV, Paris, France.

• ³Institut de Myologie, Sorbonne Universités, Paris, France.

• ⁴Sorbonne Université, Institut de Biologie Paris-Seine (IBPS), CNRS UMR 8256, Inserm ERL U1164, Biological Adaptation and Ageing, 75005, Paris, France.

• PMID: 34877239

• DOI: 10.5582/irdr.2021.01097

Keywords: HIIT; cardiac function; cardiomyopathy; force production; muscle function.

44. Respir Care. 2021 Dec 7;respcare.09502. doi: 10.4187/respcare.09502. Online ahead of print.

Improving Access and Guideline Adherence in Pulmonary Care in Patients With Duchenne Muscular Dystrophy

Jacob A Kaslow¹, Jonathan H Soslow^{2 3}, William B Burnette⁴, Frank J Raucci⁵, Tracy J Hills⁶, Michaela G Ibach⁶, Rita C Hebblethwaite⁷, Kara M Arps⁸, Andrew G Sokolow²

• ¹Department of Pediatrics, Division of Pediatric Pulmonary, Vanderbilt University Medical Center, Nashville, Tennessee. jacob.a.kaslow@vumc.org.

• ²Department of Pediatrics, Division of Pediatric Pulmonary, Vanderbilt University Medical Center, Nashville, Tennessee.

• ³Department of Pediatrics, Division of Pediatric Cardiology, Vanderbilt University Medical Center, Nashville, Tennessee.

• ⁴Division of Pediatric Neurology, Vanderbilt University Medical Center, Nashville, Tennessee.

• ⁵Division of Pediatric Cardiology, Department of Pediatrics, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia.

• ⁶Division of Pediatric Hospital Medicine, Section of Hospice and Palliative Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

• ⁷Nutrition Clinic, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.

• ⁸Department of Pediatric Rehabilitation Services, Vanderbilt University Medical Center, Nashville, Tennessee.

• PMID: 34876494

• DOI: 10.4187/respcare.09502

Keywords: Duchenne muscular dystrophy; lung function testing; neuromuscular disorders; polysomnography; pulmonology;

spirometry.

45. Arch Pediatr. 2021 Dec 4;S0929-693X(21)00208-6. doi: 10.1016/j.arcped.2021.10.008. Online ahead of print.

Use of a book to disclose a diagnosis of Duchenne muscular dystrophy to a young child: A pilot study F Audic¹, P Catillon², J Berbis³, L Paermentier², F Gizard⁴, B Chabrol²

• ¹Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385 Marseille Cedex 5, France. Electronic address:

frederique.audic@ap-hm.fr.

• ²Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385 Marseille Cedex 5, France.

• ³Assistance Publique Hopitaux de Marseille, Aix-Marseille University, UR 3279 CEReSS, Health Service Research and Quality of Life Center, Faculté de Médecine 27, Bd Jean Moulin, 13005 Marseille, France.

• ⁴Plateforme Maladie Rare Hôpital Timone Enfants, 13385 Marseille Cedex 5, France.

• PMID: 34876333

• DOI: 10.1016/j.arcped.2021.10.008

Keywords: Book; Caregivers; Child; Communication; Diagnostic announcement; Duchenne muscular dystrophy;

Expression of emotions; Information on the disease; Parents.

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Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders

n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) Review

46. Histol Histopathol. 2021 Dec 7;18403. doi: 10.14670/HH-18-403. Online ahead of print.

Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers Margit Zweyer¹, Hemmen Sabir¹, Paul Dowling^{2 3}, Stephen Gargan^{2 3}, Sandra Murphy⁴, Dieter Swandulla⁵, Kay

Ohlendieck^{6 3}

• ¹Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

• ²Department of Biology, Maynooth University, National University of Ireland, Maynooth, Kildare, Ireland.

• ³Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth, Kildare, Ireland.

• ⁴Charles River Laboratories, Chesterford Research Park, Saffron Walden, UK.

• ⁵Institute of Physiology, University of Bonn, Bonn, Germany.

• ⁶Department of Biology, Maynooth University, National University of Ireland, Maynooth, Kildare, Ireland.

kay.ohlendieck@mu.ie.

• PMID: 34873679

• DOI: 10.14670/HH-18-403

Case Reports

47. Child Neurol Open. 2021 Sep 27;8:2329048X211036546. eCollection Jan-Dec 2021.

Early Identification of DMD in the Setting of West Syndrome Ahmed Razeq¹, Samiya Ahmad¹

• ¹Baylor College of Medicine, San Antonio, TX USA.

• PMID: 34869784

• DOI: 10.1177/2329048X211036546

Keywords: Duchenne muscular dystrophy; West syndrome; epilepsy; genetics; myopathy; seizures.

48. Neurology. 2021 Dec 2;10.1212/WNL.0000000000013122. Online ahead of print.

Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy Marianela Schiava¹, Rachel Amos², Henriette VanRuiten², Michael P McDermott^{3 4}, Williams B Martens⁴, Stephanie Gregory⁴, Anna Mayhew¹, Elaine McColl⁵, Rabi Tawil⁴, Tracey Willis⁶, Kate Bushby¹, Robert C Griggs⁴, Michela Guglieri⁷, FOR-DMD Investigators of the Muscle Study Group

• ¹John Walton Muscular Dystrophy Research Centre, Clinical and translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle, UK.

• ²Great North Children Hospital, Newcastle Hospitals NHS Foundation Trusts, Newcastle, UK.

• ³Dept. of Biostatistics and Computational Biology, University of Rochester Medical Centre, Rochester, NY.

• ⁴Dept. of Neurology, University of Rochester Medical Centre, Rochester, NY.

• ⁵Newcastle University, Newcastle, UK.

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

• ⁷John Walton Muscular Dystrophy Research Centre, Clinical and translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle, UK michela.guglieri@newcastle.ac.uk.

• PMID: 34857536

• DOI: 10.1212/WNL.0000000000013122

Dystrophies musculaires des ceintures – Limb-girdle muscular dystrophies

49. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.

Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases

Mark Richardson¹, Anna Mayhew¹, Robert Muni-Lofra¹, Lindsay B Murphy¹, Volker Straub¹

• ¹John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.

• PMID: 34884219

• DOI: 10.3390/jcm10235517

Keywords: LGMDR9; limb girdle muscular dystrophy; neuromuscular diseases; pain; pain assessment; pain management.