Found: 5
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Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
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- Publication type:
- Article
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
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- Publication type:
- Article
Lead Encephalopathy with Distinctive Brain Magnetic Resonance Imaging Findings.
- Published in:
- 2021
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- Publication type:
- Case Study
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
- Published in:
- Global Medical Genetics, 2022, v. 9, n. 1, p. 34, doi. 10.1055/s-0041-1736567
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- Publication type:
- Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
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- Publication type:
- Article