Detalhe da pesquisa
1.
Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study.
J Neurol Neurosurg Psychiatry
; 90(1): 20-29, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30242088
2.
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.
BMC Med Genet
; 16: 36, 2015 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26068213
3.
Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.
Neurol Clin Pract
; 14(3): e200277, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737513
4.
[Congenital myasthenic syndromes with kinetic abnormalities of the acetylcholine receptor]. / Les syndromes myasthéniques congénitaux avec anomalies cinétiques du récepteur à l'acétylcholine.
Med Sci (Paris)
; 39 Hors série n° 1: 58-63, 2023 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-37975772
5.
[The high phenotypic variability of RYR1 gene mutations]. / La grande variabilité phénotypique des mutations du gène RYR1.
Med Sci (Paris)
; 38 Hors série n° 1: 46-48, 2022 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-36649637
6.
Clinical management and disease-modifying treatment for amyotrophic lateral sclerosis in African hospital centers: the TROPALS study.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(3-4): 279-283, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34459327
7.
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.
Am J Hum Genet
; 82(3): 661-72, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18319074
8.
In-vitro immunomodulatory effects of nicotine on Nitric Oxide, interleukin 1ß and interleukin 37 production in human peripheral blood mononuclear cells (PBMC) from patients with Behçet disease.
Int Immunopharmacol
; 101(Pt A): 108189, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34601327
9.
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
J Neurol
; 263(7): 1314-22, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142713