Found: 16
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Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Erratum to: Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
- Published in:
- 2017
- By:
- Publication type:
- corrected article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
- By:
- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 6, p. 928, doi. 10.1002/mus.24157
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- Publication type:
- Article
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 2, p. 161, doi. 10.1002/mus.23827
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- Publication type:
- Article
Cardiac involvement in patients with lamin A/C gene mutations: A cohort observation.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 2, p. 187, doi. 10.1002/mus.23294
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- Publication type:
- Article
New motor outcome function measures in evaluation of Late-Onset Pompe disease before and after enzyme replacement therapy.
- Published in:
- Muscle & Nerve, 2012, v. 45, n. 6, p. 831, doi. 10.1002/mus.23340
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- Publication type:
- Article
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 703, doi. 10.1002/mus.22132
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- Publication type:
- Article
Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: A chance association or a novel phenotype?
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 826, doi. 10.1002/mus.22228
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- Publication type:
- Article
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 5, p. 688, doi. 10.1002/mus.21937
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- Publication type:
- Article
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 4, p. 458, doi. 10.1002/mus.21514
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- Publication type:
- Article
Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.
- Published in:
- Muscle & Nerve, 2010, v. 41, n. 1, p. 85, doi. 10.1002/mus.21443
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- Publication type:
- Article
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
- Published in:
- Muscle & Nerve, 2007, v. 36, n. 6, p. 828, doi. 10.1002/mus.20879
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- Publication type:
- Article
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 190, doi. 10.1038/ejhg.2012.146
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- Publication type:
- Article
Lymphocyte subpopulations in blood and cerebrospinal fluid from patients with subacute sclerosing panencephalitis.
- Published in:
- Acta Neurologica Scandinavica, 1983, v. 67, n. 1, p. 55, doi. 10.1111/j.1600-0404.1983.tb04545.x
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- Publication type:
- Article