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1.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain;
147(6): 1967-1974, 2024 Jun 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38478578
2.
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.
Int J Mol Sci;
25(9)2024 Apr 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38731822
3.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med;
25(12): 100971, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37675773
4.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat;
41(5): 998-1011, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31999394
5.
Sema3a plays a role in the pathogenesis of CHARGE syndrome.
Hum Mol Genet;
27(8): 1343-1352, 2018 04 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29432577
6.
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum.
Front Cell Dev Biol;
10: 1025332, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36467423
7.
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
Neurol Genet;
6(5): e500, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32802957
8.
Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.
Front Neurosci;
14: 559670, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33424531
9.
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Mol Syndromol;
11(1): 30-37, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32256299
10.
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Neurol Genet;
6(1): e393, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32042921
11.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
Lancet Neurol;
18(7): 631-642, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31202468
12.
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
Front Aging Neurosci;
10: 45, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29599716
13.
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Neurology;
89(10): 1043-1049, 2017 Sep 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28794257
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