Detalhe da pesquisa
1.
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Genet Med
; 25(2): 100327, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36422518
2.
Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.
Neuropathol Appl Neurobiol
; 49(2): e12897, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36855904
3.
Dynamic Imaging of Individual Remyelination Profiles in Multiple Sclerosis.
Ann Neurol
; 79(5): 726-738, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26891452
4.
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
J Neurol Neurosurg Psychiatry
; 86(6): 646-54, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118206
5.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
6.
Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity.
Mov Disord
; 27(1): 135-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22076850
7.
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
Mov Disord
; 26(3): 534-8, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21287600
8.
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Gastroenterology
; 137(1): 101-9, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344718
9.
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Mitochondrion
; 45: 22-28, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474836
10.
Low cancer prevalence in polyglutamine expansion diseases.
Neurology
; 88(12): 1114-1119, 2017 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202696
11.
Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder.
Sleep Med
; 16(6): 754-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25934536
12.
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
Arch Neurol
; 69(4): 500-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22491195