Neuromuscular Disorders

Article	Citations
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go	110
The 2021 version of the gene table of neuromuscular disorders (nuclear genome)	49
Recent advances in nemaline myopathy	46
The 2022 version of the gene table of neuromuscular disorders (nuclear genome)	42
X-linked myotubular myopathy	36
Congenital muscular dystrophies: What is new?	35
The DMD gene and therapeutic approaches to restore dystrophin	34
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen	32
Congenital myasthenic syndromes: where do we go from here?	28
Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy	28
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group	25
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study	24
Sarcoglycanopathies: an update	24
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease	23
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial	21
The 2023 version of the gene table of neuromuscular disorders (nuclear genome)	21
Nusinersen treatment of older children and adults with spinal muscular atrophy	21
256th ENMC international workshop: Myositis specific and associated autoantibodies (MSA-ab): Amsterdam, The Netherlands, 8-10 October 2021	20
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis	20
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland	20
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies	19
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy	19
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls	19
Impact of a national population-based carrier-screening program on spinal muscular atrophy births	19
Dysphagia in adult myopathies	18

Spinal muscular atrophy: from rags to riches	18
Effectiveness of thymectomy in juvenile myasthenia gravis and clinical characteristics associated with better outcomes	17
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial	17
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2	16
SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature	16
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes	16
Bilateral facial palsy with paresthesias, variant of Guillain-Barré syndrome following COVID-19 vaccine: A case series of 9 patients	16
The effectiveness and side effects of pyridostigmine in the treatment of myasthenia gravis: a cross-sectional study	16
Epidemiology and treatment of myasthenia gravis: a retrospective study using a large insurance claims dataset in Germany	15
Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis	15
Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis	15
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment	14
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia	14
Physical training and exercise in myasthenia gravis	14
247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 2019	14
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen	13
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients	13
Pig models for Duchenne muscular dystrophy – from disease mechanisms to validation of new diagnostic and therapeutic concepts	13
Myasthenia gravis: do not forget the patient perspective	13
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia	13
Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 3	13
Early safety and tolerability profile of the BNT162b2 COVID-19 vaccine in myasthenia gravis	12
Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy	12
Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy	12
Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial	12
Rituximab in chronic immune mediated neuropathies: a systematic review	12
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient	12
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings	12
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping	11
Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice	11
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease	11
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay	11
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)	11
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients	11
Cardiovascular disease in non-classic Pompe disease: A systematic review	11
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter	11
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience	11
Newborn screening of neuromuscular diseases	11
Accuracy of patient-reported data for an online patient registry of autoimmune myasthenia gravis and Lambert-Eaton myasthenic syndrome	10
Musculoskeletal magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy	10
Respiratory muscle function in patients with nemaline myopathy	10
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe	10
Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre	10
Predictors of outcome in patients with myasthenic crisis undergoing non-invasive mechanical ventilation: A retrospective 20 year longitudinal cohort study from a single Italian center	10
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease	10
Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]	9
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review	9
Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial	9
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May	9
The functional and structural evaluation of small fibers in asymptomatic carriers of TTR p.Val50Met (Val30Met) mutation	9

Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3	9
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective	9
Characteristics of VCP mutation-associated cardiomyopathy	8
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure	8
Efficacy and safety of tacrolimus as long-term monotherapy for myasthenia gravis	8
Subcutaneous immunoglobulin for maintenance therapy in stiff-person syndrome: One-year follow-up in two patients	8
272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Nether	8
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience	8
Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review	8
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion	8
Idiopathic eosinophilic myositis: a systematic literature review	8
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin	8
Clinical characteristics and outcome in muscular sarcoidosis: a retrospective cohort study and literature review	8
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing	8
Genetic neuropathies presenting with CIDP-like features in childhood	8
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs	8
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies	7
Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis	7
The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy	7
Late onset Pompe Disease in India – Beyond the Caucasian phenotype	7
Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing	7
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands	7
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy	7
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead	7
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene	7
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy	7
Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines	7
Clinical characteristics and prognosis of very late-onset myasthenia gravis in China	7
Cognitive profiles and clinical factors in type III spinal muscular atrophy: a preliminary study	7
Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience	7
259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 2021	7
Expiratory dysfunction in young dogs with golden retriever muscular dystrophy	7
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient	7
265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands	7
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis	7
251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands	7
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network	6
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy	6
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness	6
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021	6
The phenotypic and genotypic features of a Scottish cohort with McArdle disease	6
Diaphragmatic dysfunction in neuromuscular disease, an MRI study	6
FP.24 RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)	6
Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations	6
Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease	6
mRNA intramuscular vaccination produces a robust IgG antibody response in advanced neuromuscular disease	6
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations	6
Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation	6
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease	6
A novel nonsense variant in MT-CO3 causes MELAS syndrome	6
Inflammatory myopathies in childhood	6
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype	6
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy	6
Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy	6
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering	6
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders	6
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients	6
Serum miRNAs as biomarkers for the rare types of muscular dystrophy	6
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan	6
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants	6
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings	6
Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities	6
Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy	6
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants	6
BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake	6
P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial	6
Autoantibody profile in a Malaysian cohort of chronic inflammatory demyelinating polyneuropathy	6
Cerebral involvement and related aspects in myotonic dystrophy type 2	6
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy	5
Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study	5
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism	5
Immunological response after SARS-CoV-2 infection and mRNA vaccines in patients with myasthenia gravis treated with Rituximab	5
A case of mitochondrial DNA depletion syndrome type 11 – expanding the genotype and phenotype	5
Long term follow-up of scoliosis progression in type II SMA patients	5
Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study	5
Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography	5
255th ENMC workshop: Muscle imaging in idiopathic inflammatory myopathies. 15th January, 16th January and 22nd January 2021 – virtual meeting and hybrid meeting on 9th and 19th September 2022 in Hoofd	5
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report	5
Muscle ultrasound in hereditary muscle disease	5
Hereditary transthyretin amyloidosis in multi-ethnic Malaysians	5

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy	5
260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands	5
246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands	5
Patient reported quality of life in limb girdle muscular dystrophy	5
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene	5
TNNT1 myopathy with novel compound heterozygous mutations	5
Correlations of disease severity outcome measures in inclusion body myositis	5
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients	5
Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy	5
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy	5
Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study	5
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity	5
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein	5
P212 RAINBOWFISH: Primary efficacy and safety data in risdiplam-treated infants with presymptomatic spinal muscular atrophy (SMA)	5
Analysis of complex structural variants in the DMD gene in one family	5
Distinct features in adult polyglucosan body disease: a case series	4
Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene	4
Chronic mimics of myasthenia gravis: a retrospective case series	4
Early respiratory muscle involvement in LGMDR25: a case report	4
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation	4
Primary mitochondrial myopathies in childhood	4
Implementation of tailored exercise programs for MG patients in a gym setting: a pragmatic feasibility case study	4
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1	4
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern	4
Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)	4
Reducing body myopathy – A new pathogenic FHL1 variant and literature review	4
Clinical potential of microdystrophin as a surrogate endpoint	4
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors	4
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future	4
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern	4
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores	4
Congenital myopathy and epidermolysis bullosa due to PLEC variant	4
Whole-body muscle MRI in McArdle disease	4
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium	4
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study	4
232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands	4
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy	4
Adalimumab and myositis: A case report and review of the French and international Pharmacovigilance Databases	4
Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series	4
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy	4
Adult-type dermatomyositis with secondary lymphoid follicles harbouring reactive B-cells component	4
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy	4
Intellectual disability in paediatric patients with genetic muscle diseases	4
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials	4
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy	4
Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy	4
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles	4
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy	4
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide	4
Lack of muscle stem cell proliferation and myocellular hypertrophy in sIBM patients following blood-flow restricted resistance training	4
Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop	4
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches	4
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation	4
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations	4
Refractory CIDP successfully treated with autologous haematopoietic stem cell transplantation in a patient with monoclonal gammopathy of undetermined significance (MGUS) and rheumatoid arthritis	4
The discovery of the DNA methylation episignature for Duchenne muscular dystrophy	4
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio	4
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients	3
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite	3
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?	3
Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy	3
Upper body involvement in GNE myopathy assessed by muscle imaging	3
Cognitive assessment in patients with myotonic dystrophy type 2	3
Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study	3
Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series	3
Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy	3
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy	3
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly	3
A validated WAIS-IV short-form to estimate intellectual functioning in myotonic dystrophy type 1	3
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis	3
Adolph Seeligmüller's contribution to myotonia congenita Thomsen	3
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis	3
Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country	3
Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotising myopathy	3
An autopsied case of ADSSL1 myopathy	3
P220 National newborn screening for SMA in Norway	3
VP278 The emerging spectrum of fetal acetylcholine receptor antibody-associated disorders (FARAD)	3
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation	3
Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2	3
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France	3
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine	3
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report	3
P51 Phase 1/2 study to evaluate AOC 1020 for adult patients with facioscapulohumeral muscular dystrophy: FORTITUDE trial design	3
X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness	3
Psychopharmaceutical treatment for neurobehavioral problems in Duchenne muscular dystrophy: a descriptive study using real-world data	3
FP.29 AAV-CRISPR-Cas13 gene therapy for FSHD: DUX4 gene silencing efficacy and immune responses to Cas13b protein	3
SMA - TREATMENT	3
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review	3
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study	3
Dystrophinopathy and the brain: A parent project muscular dystrophy (PPMD) meeting report November 11-12, 2021, New York City, NY	3
Respiratory function and sleep in children with myotonic dystrophy type 1	3
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands	3
Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A “triple trouble” case report and review of the literature on the association of MS and muscle disorders	3
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype	3
PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications	3