Detalhe da pesquisa
1.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31050087
2.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
J Neurol Neurosurg Psychiatry
; 95(3): 288-290, 2024 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38041669
3.
Breathing variability and brainstem serotonergic loss in a genetic model of multiple system atrophy.
Mov Disord
; 29(3): 388-95, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24442757
4.
[Multidisciplinary care of patients with Myotonic Dystrophy type 1 (DM1) in South Aquitaine]. / Le suivi multidisciplinaire de patients adultes atteints de dystrophie myotonique de type 1 dans le Sud Aquitain.
Med Sci (Paris)
; 37 Hors série n° 1: 32-35, 2021 Nov.
Artigo
Francês
| MEDLINE | ID: mdl-34878392
5.
Encephalophaty associated with rasagiline and sertraline in Parkinson's disease: possible serotonin syndrome.
Mov Disord
; 28(10): 1464, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23495033
6.
Impact of sleep apnea syndrome on survival in patients with multiple system atrophy.
Parkinsonism Relat Disord
; 35: 92-95, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28011164
7.
Current Concepts in the Treatment of Multiple System Atrophy.
Mov Disord Clin Pract
; 2(1): 6-16, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30363880
8.
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Neurobiol Aging
; 36(11): 3116.e5-3116.e8, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26476236
9.
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Alzheimers Dement (Amst)
; 1(4): 481-6, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27239526
10.
Opsoclonus myoclonus syndrome in the context of Salmonellosis.
Mov Disord
; 24(15): 2306-8, 2009 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19845009
11.
Accuracy of portable polygraphy for the diagnosis of sleep apnea in multiple system atrophy.
Sleep Med
; 15(4): 476-9, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24656908
12.
Multiple system atrophy: current and future approaches to management.
Ther Adv Neurol Disord
; 3(4): 249-63, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21179616