Detalhe da pesquisa
1.
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Hum Mol Genet
; 23(3): 749-54, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24057670
2.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
; 34: 1-8, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087756
3.
Erratum: Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Neurol Genet
; 9(5): e200095, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37521204
4.
Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
Neurol Genet
; 9(4): e200079, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293291
5.
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
Front Immunol
; 13: 917601, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35812399
6.
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
J Clin Med
; 11(1)2021 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35011763
7.
Periodic lateralized epileptiform discharges: etiology, clinical aspects, seizures, and evolution in 130 patients.
J Clin Neurophysiol
; 19(2): 172-7, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11997729