Found: 29
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Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
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- Article
Reply: Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
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- Publication type:
- commentary
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
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- Movement Disorders, 2015, v. 30, n. 6, p. 854, doi. 10.1002/mds.26196
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- Article
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
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- Neurogenetics, 2015, v. 16, n. 1, p. 33, doi. 10.1007/s10048-014-0422-0
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- Article
L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype.
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- Neurogenetics, 2010, v. 11, n. 3, p. 357, doi. 10.1007/s10048-010-0237-6
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- Article
Unique combination of anti‐paraneoplastic antigen Ma2 antibody‐positive Ophelia syndrome and opsoclonus‐myoclonus syndrome in an adult Hodgkin's lymphoma patient.
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- Clinical & Experimental Neuroimmunology, 2020, v. 11, n. 1, p. 73, doi. 10.1111/cen3.12549
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- Article
A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR).
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1606, doi. 10.1038/ejhg.2009.99
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- Article
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
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- Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
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- Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
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- Nature Genetics, 2006, v. 38, n. 2, p. 197, doi. 10.1038/ng1727
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- Article
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
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- Journal of Neurology, 2016, v. 263, n. 3, p. 467, doi. 10.1007/s00415-015-7989-8
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- Article
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
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- Nature, 2015, v. 526, n. 7575, p. 710, doi. 10.1038/nature15510
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- Article
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
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- European Neurology, 2016, v. 75, n. 3/4, p. 113, doi. 10.1159/000444480
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- Article
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45099-0
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- Article
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0186642
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- Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
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- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12909-9
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- Article
Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.
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- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01399-2
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- Article
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 906, doi. 10.1007/s00415-011-6276-6
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- Article
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 838, doi. 10.1007/s00415-011-6262-z
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- Article
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
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- Journal of Neurology, 2012, v. 259, n. 3, p. 474, doi. 10.1007/s00415-011-6204-9
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- Article
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations.
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- Human Mutation, 2015, v. 36, n. 4, p. 395, doi. 10.1002/humu.22758
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- Article
The TREAT- NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.
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- Human Mutation, 2013, v. 34, n. 11, p. 1449, doi. 10.1002/humu.22390
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- Article
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.
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- Human Mutation, 2012, v. 33, n. 10, p. 1474, doi. 10.1002/humu.22130
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- Article
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
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- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4302, doi. 10.1093/hmg/ddw263
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- Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
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- Annals of Neurology, 2006, v. 59, n. 2, p. 276
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- Article
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
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- Annals of Neurology, 2004, v. 55, n. 5, p. 713
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- Article
Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.
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- 2001
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- Publication type:
- journal article
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations.
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- Annals of Neurology, 1999, v. 45, n. 6, p. 742, doi. 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N
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- Article
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.
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- Epilepsia (Series 4), 2009, v. 50, n. 7, p. 1679, doi. 10.1111/j.1528-1167.2009.02066.x
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- Article
Early Clinical and Electrophysiologic Features of the Two Most Common Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in the Roma (Gypsies).
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- Journal of Child Neurology, 2006, v. 21, n. 1, p. 20, doi. 10.1177/08830738060210010401
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- Article