Detalhe da pesquisa
1.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
2.
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Eur J Neurol
; 28(4): 1334-1343, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369814
3.
Expanding the ß-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Int J Mol Sci
; 22(5)2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801522
4.
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Clin Genet
; 97(5): 758-763, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043565
5.
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
J Med Genet
; 55(12): 814-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30415211
6.
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Neurogenetics
; 18(4): 245-250, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975462
7.
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Mol Genet Metab Rep
; 36: 100984, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323222
8.
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.
Biomedicines
; 9(9)2021 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34572285
9.
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
J Gastroenterol
; 56(1): 78-89, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159804
10.
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
J Neurol Sci
; 402: 156-161, 2019 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152969
11.
Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.
Sci Rep
; 7(1): 1923, 2017 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28507310
12.
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
Neurol Genet
; 7(1): e543, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33585677