Neuromuscular Disorders

Papers
(The TQCC of Neuromuscular Disorders is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-10-01 to 2024-10-01.)
ArticleCitations
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go110
The 2021 version of the gene table of neuromuscular disorders (nuclear genome)49
Recent advances in nemaline myopathy46
The 2022 version of the gene table of neuromuscular disorders (nuclear genome)42
X-linked myotubular myopathy36
Congenital muscular dystrophies: What is new?35
The DMD gene and therapeutic approaches to restore dystrophin34
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen32
Guillain-Barré-Strohl syndrome and COVID-19: Case report and literature review31
Congenital myasthenic syndromes: where do we go from here?28
Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy28
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group25
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study24
Sarcoglycanopathies: an update24
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease23
Nusinersen treatment of older children and adults with spinal muscular atrophy21
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 trial21
The 2023 version of the gene table of neuromuscular disorders (nuclear genome)21
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland20
256th ENMC international workshop: Myositis specific and associated autoantibodies (MSA-ab): Amsterdam, The Netherlands, 8-10 October 202120
Prevalence and associated factors of fatigue in autoimmune myasthenia gravis20
Impact of a national population-based carrier-screening program on spinal muscular atrophy births19
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies19
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy19
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls19
Spinal muscular atrophy: from rags to riches18
Dysphagia in adult myopathies18
Mortality rates and causes of death in Swedish Myasthenia Gravis patients17
Effectiveness of thymectomy in juvenile myasthenia gravis and clinical characteristics associated with better outcomes17
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial17
Feeding difficulties in children and adolescents with spinal muscular atrophy type 216
Bilateral facial palsy with paresthesias, variant of Guillain-Barré syndrome following COVID-19 vaccine: A case series of 9 patients16
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes16
SARS-CoV-2 vaccination and new-onset myasthenia gravis: A report of 7 cases and review of the literature16
The effectiveness and side effects of pyridostigmine in the treatment of myasthenia gravis: a cross-sectional study16
Epidemiology and treatment of myasthenia gravis: a retrospective study using a large insurance claims dataset in Germany15
Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis15
Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis15
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment14
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia14
Physical training and exercise in myasthenia gravis14
247th ENMC International Workshop: Muscle magnetic resonance imaging - Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts. Hoofddorp, The Netherlands, September 201914
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen13
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients13
Pig models for Duchenne muscular dystrophy – from disease mechanisms to validation of new diagnostic and therapeutic concepts13
Myasthenia gravis: do not forget the patient perspective13
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia13
Glucose and lipid metabolism disorders in children and adolescents with spinal muscular atrophy types 2 and 313
Early safety and tolerability profile of the BNT162b2 COVID-19 vaccine in myasthenia gravis12
Insulin-like growth factor-1 status is associated with insulin resistance in young patients with spinal muscular atrophy12
Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy12
Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial12
Rituximab in chronic immune mediated neuropathies: a systematic review12
Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient12
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings12
Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping11
Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice11
Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease11
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay11
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)11
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients11
Cardiovascular disease in non-classic Pompe disease: A systematic review11
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter11
Newborn screening for spinal muscular atrophy: The Wisconsin first year experience11
Newborn screening of neuromuscular diseases11
Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre10
Musculoskeletal magnetic resonance imaging in the DE50-MD dog model of Duchenne muscular dystrophy10
Respiratory muscle function in patients with nemaline myopathy10
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe10
Accuracy of patient-reported data for an online patient registry of autoimmune myasthenia gravis and Lambert-Eaton myasthenic syndrome10
Predictors of outcome in patients with myasthenic crisis undergoing non-invasive mechanical ventilation: A retrospective 20 year longitudinal cohort study from a single Italian center10
Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease10
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
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 39
Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial9
HyperCKemia and rhabdomyolysis in the neuroleptic malignant and serotonin syndromes: A literature review9
The functional and structural evaluation of small fibers in asymptomatic carriers of TTR p.Val50Met (Val30Met) mutation9
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
Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients’ perspective9
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion8
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 Nether8
Characteristics of VCP mutation-associated cardiomyopathy8
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure8
Efficacy and safety of tacrolimus as long-term monotherapy for myasthenia gravis8
Genetic neuropathies presenting with CIDP-like features in childhood8
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin8
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience8
Prevalence of atrial fibrillation in myotonic dystrophy type 1: A systematic review8
Idiopathic eosinophilic myositis: a systematic literature review8
Subcutaneous immunoglobulin for maintenance therapy in stiff-person syndrome: One-year follow-up in two patients8
Clinical characteristics and outcome in muscular sarcoidosis: a retrospective cohort study and literature review8
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing8
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs8
Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations7
Risk factors and future directions for preventing and diagnosing exertional rhabdomyolysis7
The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy7
Fatal disseminated Anncaliia algerae myositis mimicking polymyositis in an immunocompromised patient7
265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands7
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis7
251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands7
Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience7
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead7
Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene7
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy7
Late onset Pompe Disease in India – Beyond the Caucasian phenotype7
Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing7
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands7
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy7
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies7
259th ENMC international workshop: Anaesthesia and neuromuscular disorders 11 December, 2020 and 28–29 May, 20217
Expiratory dysfunction in young dogs with golden retriever muscular dystrophy7
250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands7
Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines7
Clinical characteristics and prognosis of very late-onset myasthenia gravis in China7
Cognitive profiles and clinical factors in type III spinal muscular atrophy: a preliminary study7
Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease6
mRNA intramuscular vaccination produces a robust IgG antibody response in advanced neuromuscular disease6
Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations6
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan6
Muscular dystrophy-dystroglycanopathy in a family of Labrador retrievers with a LARGE1 mutation6
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants6
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings6
Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities6
Psychological parameters impact health-related quality of life in mental and physical domains in adults with muscular dystrophy6
A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy6
Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy6
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering6
267th ENMC International workshop: psychological interventions for improving quality of life in slowly progressive neuromuscular disorders6
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients6
Serum miRNAs as biomarkers for the rare types of muscular dystrophy6
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy6
A novel nonsense variant in MT-CO3 causes MELAS syndrome6
264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 20216
The phenotypic and genotypic features of a Scottish cohort with McArdle disease6
LATE BREAKING NEWS ORAL PRESENTATION6
NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants6
BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake6
P.132 Casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: Interim results from the Phase 3 ESSENCE trial6
Autoantibody profile in a Malaysian cohort of chronic inflammatory demyelinating polyneuropathy6
Cerebral involvement and related aspects in myotonic dystrophy type 26
Muscle “islands”: An MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness6
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network6
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease6
Diaphragmatic dysfunction in neuromuscular disease, an MRI study6
Inflammatory myopathies in childhood6
Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype6
Optimizing hand-function patient outcome measures for inclusion body myositis6
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 mutations6
Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography5
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 Hoofd5
SMA – THERAPY5
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism5
Immunological response after SARS-CoV-2 infection and mRNA vaccines in patients with myasthenia gravis treated with Rituximab5
High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients5
A case of mitochondrial DNA depletion syndrome type 11 – expanding the genotype and phenotype5
SMA – THERAPY5
Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein5
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene5
TNNT1 myopathy with novel compound heterozygous mutations5
Correlations of disease severity outcome measures in inclusion body myositis5
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report5
Hereditary transthyretin amyloidosis in multi-ethnic Malaysians5
Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy5
260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands5
Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study5
246th ENMC International Workshop: Protein aggregate myopathies 24–26 May 2019, Hoofddorp, The Netherlands5
Long term follow-up of scoliosis progression in type II SMA patients5
Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy – results of a prospective diagnostic study5
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 family5
A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy5
Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy5
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy5
Muscle ultrasound in hereditary muscle disease5
Characterization of cannabis use by patients with myotonic dystrophy type 1: A pilot study5
A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity5
Patient reported quality of life in limb girdle muscular dystrophy5
LATE BREAKING NEWS E-POSTER PRESENTATION5
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches4
Adalimumab and myositis: A case report and review of the French and international Pharmacovigilance Databases4
Adult-type dermatomyositis with secondary lymphoid follicles harbouring reactive B-cells component4
Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series4
Intellectual disability in paediatric patients with genetic muscle diseases4
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy4
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials4
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy4
Muscle magnetic resonance imaging in patients with LAMA2-related muscular dystrophy4
SMA – THERAPY4
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles4
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation4
DMD – THERAPY4
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study4
232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands4
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 14
Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern4
Myoneuropathic presentation of limb girdle muscular dystrophy R8 with a novel TRIM32 mutation4
The discovery of the DNA methylation episignature for Duchenne muscular dystrophy4
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations4
Continued safety and long-term effectiveness of onasemnogene abeparvovec in Ohio4
Refractory CIDP successfully treated with autologous haematopoietic stem cell transplantation in a patient with monoclonal gammopathy of undetermined significance (MGUS) and rheumatoid arthritis4
Distinct features in adult polyglucosan body disease: a case series4
Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores4
Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene4
Whole-body muscle MRI in McArdle disease4
Early respiratory muscle involvement in LGMDR25: a case report4
Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy4
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide4
Lack of muscle stem cell proliferation and myocellular hypertrophy in sIBM patients following blood-flow restricted resistance training4
Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness4
Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy4
Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease4
Quantitative vs qualitative muscle MRI: Imaging biomarker in patients with Oculopharyngeal Muscular Dystrophy (OPMD)4
Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors4
Reducing body myopathy – A new pathogenic FHL1 variant and literature review4
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future4
Clinical potential of microdystrophin as a surrogate endpoint4
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern4
Chronic mimics of myasthenia gravis: a retrospective case series4
Congenital myopathy and epidermolysis bullosa due to PLEC variant4
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy4
Cost-effectiveness of spinal muscular atrophy newborn screening based on real-world data in Belgium4
Primary mitochondrial myopathies in childhood4
Implementation of tailored exercise programs for MG patients in a gym setting: a pragmatic feasibility case study4
Ranolazine-induced lipid storage myopathy presenting with respiratory failure and head drop4
VP278 The emerging spectrum of fetal acetylcholine receptor antibody-associated disorders (FARAD)3
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France3
X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness3
Psychopharmaceutical treatment for neurobehavioral problems in Duchenne muscular dystrophy: a descriptive study using real-world data3
FP.29 AAV-CRISPR-Cas13 gene therapy for FSHD: DUX4 gene silencing efficacy and immune responses to Cas13b protein3
SMA - TREATMENT3
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease – Case series and review3
Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study3
Dystrophinopathy and the brain: A parent project muscular dystrophy (PPMD) meeting report November 11-12, 2021, New York City, NY3
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 disorders3
Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients3
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite3
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 neuropathy3
Upper body involvement in GNE myopathy assessed by muscle imaging3
Cognitive assessment in patients with myotonic dystrophy type 23
Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study3
Influence of β2 adrenergic receptor genotype on longitudinal measures of forced vital capacity in patients with Duchenne muscular dystrophy3
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly3
Adolph Seeligmüller's contribution to myotonia congenita Thomsen3
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis3
Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country3
Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotising myopathy3
An autopsied case of ADSSL1 myopathy3
P220 National newborn screening for SMA in Norway3
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