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| 36861744 | Two emerging phenotypes of atypical inclusion body myositis: illustrative cases. | Clin Exp Rheumatol | 2023 |
| 37919206 | Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series. | Neuromuscul Disord | 2023 |
| 37919205 | Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease. | Neuromuscul Disord | 2023 |
| 37488619 | Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation. | Orphanet J Rare Dis | 2023 |
| 37643885 | Long-term Natural History of Pediatric Dominant and Recessive <i>RYR1</i>-Related Myopathy. | Neurology | 2023 |
| 37769369 | Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study. | Clin Nutr | 2023 |
| 35435109 | A systematic review and qualitative synthesis of the experiences of parents of individuals living with Duchenne muscular dystrophy. | Disabil Rehabil | 2023 |
| 36913258 | Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort. | Brain | 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 |
| 34606104 | Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study. | Muscle Nerve | 2022 |
| 35757141 | Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. | Front Pediatr | 2022 |
| 35560237 | Age at diagnosis for Duchenne muscular dystrophy: Why we must do better. | Muscle Nerve | 2022 |
| 36202532 | Cardiac Outcomes in Adults With Mitochondrial Diseases. | J Am Coll Cardiol | 2022 |
| 36120788 | Perioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists. | J Neuromuscul Dis | 2022 |
| 36252992 | Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. | Open Heart | 2022 |
| 35241345 | No effect of triheptanoin in patients with phosphofructokinase deficiency. | Neuromuscul Disord | 2022 |
| 35140027 | Erratum to ``Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group'' [Neuromuscular Disorders 31 (2021) 1296-1310]. | Neuromuscul Disord | 2022 |
| 33449170 | Making sense of missense variants in TTN-related congenital myopathies. | Acta Neuropathol | 2021 |
| 37206451 | Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure. | JPGN Rep | 2021 |
| 33742325 | Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease. | Mol Biol Rep | 2021 |
| 33646175 | Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era. | J Neuromuscul Dis | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34732400 | Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. | BMJ | 2021 |
| 34485019 | Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII). | JIMD Rep | 2021 |
| 34511509 | Adult North Star Network (ANSN): Consensus Guideline For The Standard Of Care Of Adults With Duchenne Muscular Dystrophy. | J Neuromuscul Dis | 2021 |
| 34848128 | Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group. | Neuromuscul Disord | 2021 |
| 34534370 | Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study. | J Inherit Metab Dis | 2021 |
| 34215481 | The phenotypic and genotypic features of a Scottish cohort with McArdle disease. | Neuromuscul Disord | 2021 |
| 34087166 | A form of muscular dystrophy associated with pathogenic variants in JAG2. | Am J Hum Genet | 2021 |
| 34049779 | Clinical outcome of SARS-CoV-2 infection in 7 adults with Duchenne muscular dystrophy attending a specialist neuromuscular centre. | Neuromuscul Disord | 2021 |
| 32522502 | First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. | Neuromuscul Disord | 2020 |
| 32060930 | Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study. | J Inherit Metab Dis | 2020 |
| 32042910 | Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutations. | Neurol Genet | 2020 |
| 32005495 | Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. | Neuromuscul Disord | 2020 |
| 32962872 | Reference values for the 12 minute walk test in McArdle patients. | Neuromuscul Disord | 2020 |
| 32811700 | Results of an open label feasibility study of sodium valproate in people with McArdle disease. | Neuromuscul Disord | 2020 |
| 32527838 | Primary mitochondrial diseases increase susceptibility to bipolar affective disorder. | J Neurol Neurosurg Psychiatry | 2020 |
| 32337339 | Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA<sup>Gly</sup> (<i>MT-TG</i>) variant. | Neurol Genet | 2020 |
| 32387519 | Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study. | Chest | 2020 |
| 30534954 | Cardiac manifestations of McArdle disease. | Eur Heart J | 2019 |
| 31741825 | The need for biochemical testing in beta-enolase deficiency in the genomic era. | JIMD Rep | 2019 |
| 31561939 | Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre. | Neuromuscul Disord | 2019 |
| 31174585 | "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. | Orphanet J Rare Dis | 2019 |
| 31520525 | No effect of triheptanoin on exercise performance in McArdle disease. | Ann Clin Transl Neurol | 2019 |
| 31288420 | Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases. | J Clin Med | 2019 |
| 31455395 | Clinical, histological, and genetic characterization of PYROXD1-related myopathy. | Acta Neuropathol Commun | 2019 |
| 30743023 | Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1. | Mitochondrion | 2019 |
| 31039582 | MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. | Hum Mol Genet | 2019 |
| 30884027 | Urogenital symptoms in mitochondrial disease: overlooked and undertreated. | Eur J Neurol | 2019 |
| 30788618 | The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. | J Neurol | 2019 |