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| 36404556 | RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022. | Journal of Neuromuscular Diseases | 2023 |
| 37598009 | Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels. | Neuromuscul Disord | 2023 |
| 37643885 | Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy. | Neurology | 2023 |
| 37980680 | Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10â¿¿m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys. | | 2023 |
| 37265148 | Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. | Ann Clin Transl Neurol | 2023 |
| 36804616 | 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. | Neuromuscul Disord | 2023 |
| 35077597 | Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. | Hum Mutat | 2022 |
| 35757141 | Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. | Front Pediatr | 2022 |
| 35869884 | GGPS1-associated muscular dystrophy with and without hearing loss. | Ann Clin Transl Neurol | 2022 |
| 36524401 | Early clinical and pre-clinical therapy development in Nemaline myopathy. | | 2022 |
| 35249790 | Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings. | Neuromuscul Disord | 2022 |
| 34606104 | Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study. | Muscle Nerve | 2022 |
| 33449170 | Making sense of missense variants in TTN-related congenital myopathies. | Acta Neuropathol | 2021 |
| 34240052 | International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy. | Brain Commun | 2021 |
| 33454188 | Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. | Neuromuscul Disord | 2021 |
| 33454187 | Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects. | Neuromuscul Disord | 2021 |
| 32778822 | Genotype-phenotype correlations in recessive titinopathies. | Genet Med | 2020 |
| 32387519 | Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study. | Chest | 2020 |
| 33037864 | Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials. | Ann Clin Transl Neurol | 2020 |
| 32875335 | New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. | Brain | 2020 |
| 32738225 | De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. | Am J Hum Genet | 2020 |
| 32910545 | LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort. | Ann Clin Transl Neurol | 2020 |
| 32848593 | LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness. | Front Mol Neurosci | 2020 |
| 30895940 | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. | JCI Insight | 2019 |
| 31660490 | Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report. | European Heart Journal - Case Reports | 2019 |
| 31130378 | A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. | Neuromuscul Disord | 2019 |
| 29437916 | Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy. | J Neurol Neurosurg Psychiatry | 2018 |
| 30168660 | STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. | Hum Mutat | 2018 |
| 30007050 | Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. | Hum Mutat | 2018 |
| 30131190 | ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. | Neuromuscul Disord | 2018 |
| 29391587 | Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction. | Nat Rev Neurol | 2018 |
| 28544275 | Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. | Hum Mutat | 2017 |
| 28688748 | Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. | Neuromuscul Disord | 2017 |
| 28427100 | Dystrophinopathies and Limb-Girdle Muscular Dystrophies. | Neuropediatrics | 2017 |
| 28424332 | Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. | Sci Transl Med | 2017 |
| 26700687 | Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. | Brain | 2016 |
| 27246070 | Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? | Arch Dis Child | 2016 |
| 27147698 | Clinical features of the myasthenic syndrome arising from mutations in GMPPB. | J Neurol Neurosurg Psychiatry | 2016 |
| 26599341 | Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. | Muscle Nerve | 2016 |
| 26338452 | Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. | Neuromuscul Disord | 2015 |
| 26133662 | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. | Brain | 2015 |
| 24695763 | Two recurrent mutations are associated with GNE myopathy in the North of Britain. | J Neurol Neurosurg Psychiatry | 2014 |
| 24334769 | Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. | Hum Mol Genet | 2014 |
| 23486992 | Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. | J Neurol Neurosurg Psychiatry | 2014 |
| 23606453 | ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. | Hum Mutat | 2013 |
| 22713807 | A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. | European Journal of Human Genetics | 2013 |
| 24149064 | Skeletal muscle involvement in cardiomyopathies. | Journal of Cardiovascular Medicine | 2013 |
| 23788081 | Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis. | PLoS Curr | 2013 |
| 23062590 | Presymptomatic late-onset Pompe disease identified by the dried blood spot test. | Neuromuscul Disord | 2013 |