Detalhe da pesquisa
1.
Distal hereditary motor neuropathies.
Rev Neurol (Paris)
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38702287
2.
The methylenetetrahydrofolate reductase C677T and A1298C genetic polymorphisms and plasma homocysteine in Alzheimer's disease in an Algerian population.
Int J Neurosci
; : 1-6, 2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580407
3.
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Neurogenetics
; 22(4): 333-341, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405299
4.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
5.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Ann Neurol
; 88(4): 843-850, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045815
6.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
7.
Nonsteroidal Anti-inflammatory Use and LRRK2 Parkinson's Disease Penetrance.
Mov Disord
; 35(10): 1755-1764, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662532
8.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Am J Hum Genet
; 98(3): 500-513, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942284
9.
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
10.
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
J Med Genet
; 52(10): 681-90, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246519
11.
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Nat Genet
; 39(3): 366-72, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17322883
12.
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Mol Genet Metab
; 116(4): 252-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490222
13.
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
14.
All-trans-retinoic acid modulates nitric oxide and interleukin-17A production by peripheral blood mononuclear cells from patients with Alzheimer's disease.
Neuroimmunomodulation
; 22(6): 385-93, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278415
15.
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
Brain
; 141(9): e70, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084872
16.
Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes.
Neurol Clin Pract
; 14(3): e200277, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737513
17.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am J Hum Genet
; 87(3): 410-7, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20797687
18.
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
J Peripher Nerv Syst
; 18(2): 113-29, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23781959
19.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Nat Genet
; 36(3): 225-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14770181
20.
[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