Found: 16
Select item for more details and to access through your institution.
Myopathy is a prominent feature in Marinesco-Sjögren syndrome.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 3, p. 301, doi. 10.1007/s00415-005-0983-9
- By:
- Publication type:
- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
- By:
- Publication type:
- Article
Myotonias and army personnel: symptoms and effects on service fitness.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Myotonias and Army Personnel: Symptoms and Effects on Service Fitness.
- Published in:
- Military Medicine, 2005, v. 170, n. 9, p. 806
- By:
- Publication type:
- Article
Abnormal blood lactate accumulation after exercise in patients with multiple mitochondrial DNA deletions and minor muscular symptoms.
- Published in:
- Clinical Physiology & Functional Imaging, 2004, v. 24, n. 2, p. 109, doi. 10.1111/j.1475-097X.2004.00531.x
- By:
- Publication type:
- Article
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2).
- Published in:
- Journal of Neurology, 2004, v. 251, n. 2, p. 232, doi. 10.1007/s00415-004-0299-1
- By:
- Publication type:
- Article
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
- Published in:
- Nature, 2002, v. 418, n. 6896, p. 417, doi. 10.1038/nature00837
- By:
- Publication type:
- Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
- By:
- Publication type:
- Article
Progressive unilateral hypertrophic myopathy: A case study.
- Published in:
- Muscle & Nerve, 1993, v. 16, n. 1, p. 63, doi. 10.1002/mus.880160111
- By:
- Publication type:
- Article
Disorders Associated with Multiple Deletions of Mitochondrial DNA.
- Published in:
- Brain Pathology, 1992, v. 2, n. 2, p. 133, doi. 10.1111/j.1750-3639.1992.tb00681.x
- By:
- Publication type:
- Article
Muscular dystrophy with separate clinical phenotypes in a large family.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 11, p. 1050, doi. 10.1002/mus.880141103
- By:
- Publication type:
- Article
Usefulness of chromosome 19 RFLP haplotypes in the diagnosis of myotonic dystrophy.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 5, p. 451, doi. 10.1002/mus.880140511
- By:
- Publication type:
- Article
Neuronal intranuclear inclusion disease.
- Published in:
- Acta Ophthalmologica (1755375X), 1986, v. 64, n. 6, p. 637, doi. 10.1111/j.1755-3768.1986.tb00680.x
- By:
- Publication type:
- Article
Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 2, p. 151, doi. 10.1111/j.1399-0004.1985.tb00375.x
- By:
- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 1985, v. 17, n. 2, p. 212, doi. 10.1002/ana.410170224
- By:
- Publication type:
- Article
Neuronal intranuclear inclusion disease in identical twins.
- Published in:
- Annals of Neurology, 1984, v. 15, n. 4, p. 316, doi. 10.1002/ana.410150403
- By:
- Publication type:
- Article