Found: 6
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Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 2, p. 352, doi. 10.1111/nan.12652
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- Publication type:
- Article
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 3, p. 565, doi. 10.1007/s00401-019-02117-6
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- Publication type:
- Article
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 491, doi. 10.1111/j.1399-0004.2011.01667.x
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- Publication type:
- Article
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 851, doi. 10.1007/s00415-011-6266-8
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- Publication type:
- Article
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
- Published in:
- 2011
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- Publication type:
- journal article
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAPI-associated neuropathy.
- Published in:
- 2008
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- Publication type:
- Journal Article