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Last Updated: 03/06/2025
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Found 157 publications
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Journal: Research square
Published: November 01, 2024
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Journal: Acta neuropathologica communications
Published: August 14, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Journal: Brain : a journal of neurology
Published: December 14, 2023
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Journal: Journal of neuromuscular diseases
Published: October 09, 2023
Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension.
Journal: BMJ case reports
Published: September 22, 2023
SEPN1 Related Myopathy Presenting as Chronic Respiratory Insufficiency.
Journal: Indian journal of pediatrics
Published: May 08, 2023
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.
Journal: BMC musculoskeletal disorders
Published: March 09, 2023
Cardiac involvement in two rare neuromuscular diseases: LAMA2-related muscular dystrophy and SELENON-related myopathy.
Journal: Neuromuscular disorders : NMD
Published: January 23, 2022
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Journal: Journal of neuromuscular diseases
Published: December 05, 2021
Rigid Spine Muscular Dystrophy Type 1 Presenting with Neck Tilt.
Journal: The Journal of pediatrics
Published: October 29, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Journal: Journal of clinical medicine
Published: January 22, 2021
The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
Journal: The journal of gene medicine
Published: January 17, 2020
Last Updated: 03/06/2025