Associated Papers
Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation.
Mohamed K et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Improvement of Symptoms in a Patient With Glycogen Storage Disease Through Nutritional Guidance and Exercise Therapy.
Morita T et al.
Jcem Case Reports, 2025
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features.
Kruijt N et al.
Genes, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Searching for Clues in the Diagnosis of McArdle Disease.
Uysal SP et al.
Cureus, 2025
Camptocormia as a feature of Mc Ardle's disease: A case report.
Nicolas M et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Aerobic capacity and muscle proteome: Insights from a mouse model.
Plaza-Florido A et al.
Experimental Physiology, 2025
McArdle Disease: Insights Into a Rare Metabolic Myopathy in a Young Boy With Recurrent Exercise-Induced Muscle Weakness.
Ali RAA et al.
Cureus, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
When Fatigue Hides A Metabolic Myopathy: A Case Report of Mcardle Disease with Molecular Diagnosis.
Teixeira Lima B et al.
European Journal of Case Reports in Internal Medicine, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
McArdle Disease: A Diagnostic Challenge Due to Nonspecific Clinical Manifestations.
Pereira S et al.
Cureus, 2024
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Cardiac comorbidities in McArdle disease: case report and systematic review.
Hoxhaj D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
McArdle's Disease: A Differential Diagnosis of Metabolic Myopathies.
Nascimento J et al.
Cureus, 2024
Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium.
Basu B et al.
The Journal of Biological Chemistry, 2024
Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.
Da Silva JD et al.
Pediatric Research, 2024
Glycogen storage disease type V: a still under-recognized condition lacking definitive genotype-phenotype correlates.
Ravaglia S et al.
Pediatric Research, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Gene therapy for glycogen storage diseases.
Koeberl DD et al.
Journal of Inherited Metabolic Disease, 2024
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Kucera KS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Famili DT et al.
Neuromuscular Disorders : Nmd, 2023
Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.
Pereira  et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2023
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.
Adams L et al.
Jimd Reports, 2023
Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene.
Cerrada V et al.
Biomedicines, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation.
Molenaar JP et al.
Neuromuscular Disorders : Nmd, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.
Løkken N et al.
Nutrients, 2023
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Villarreal-Salazar M et al.
Molecular Metabolism, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.
Ortuño-Costela MDC et al.
International Journal of Molecular Sciences, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Serrano-Lorenzo P et al.
Genes, 2022
[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].
Vidal-Sanahuja R et al.
Revista De Neurologia, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Álvarez-Velasco R et al.
Muscle & Nerve, 2022
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
García-Consuegra I et al.
International Journal of Molecular Sciences, 2022