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UnknownPathological Features in Paediatric Patients with TK2 Deficiency.
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S-EPMC9570075 | biostudies-literature
UnknownClinical presentation and proteomic signature of patients with TANGO2 mutations.
Not available
S-EPMC7078914 | biostudies-literature
UnknownCRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
Not available
S-EPMC9025481 | biostudies-literature
UnknownExpanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Not available
S-EPMC10579479 | biostudies-literature
UnknownGenetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
Not available
S-EPMC10313949 | biostudies-literature
UnknownTargeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Not available
S-EPMC7288461 | biostudies-literature
UnknownMYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.
Not available
S-EPMC12147433 | biostudies-literature
UnknownThe Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
Not available
S-EPMC8074304 | biostudies-literature
UnknownExpanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.
Not available
S-EPMC12790158 | biostudies-literature
UnknownAdvancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases.
Not available
S-EPMC11257830 | biostudies-literature
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