Detalhe da pesquisa
1.
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia.
Clin Genet
; 94(3-4): 356-361, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29882329
2.
Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice.
Cerebellum
; 17(5): 628-653, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656311
3.
[Ataxias and hereditary spastic paraplegias]. / Ataxien und hereditäre spastische Spinalparalysen.
Nervenarzt
; 88(7): 720-727, 2017 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-28600743
4.
Consensus paper: management of degenerative cerebellar disorders.
Cerebellum
; 13(2): 248-68, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24222635
5.
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.
Eur J Neurol
; 21(7): 983-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698313
6.
Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing.
Stem Cell Res
; 77: 103378, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479332
7.
Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.
Cerebellum
; 12(3): 418-28, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23090211
8.
Prospective analysis of falls in dominant ataxias.
Eur Neurol
; 69(1): 53-7, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146840
9.
Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights.
Neuropathol Appl Neurobiol
; 38(7): 665-80, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22309224
10.
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3).
Cerebellum
; 11(3): 749-60, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22198871
11.
Disease severity affects quality of life of hereditary spastic paraplegia patients.
Eur J Neurol
; 19(1): 168-71, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21631647
12.
Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4.
Stem Cell Res
; 60: 102741, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248878
13.
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
Eur J Neurol
; 18(2): 207-217, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20500522
14.
The cold hand sign in multiple system atrophy: skin perfusion revisited.
J Neural Transm (Vienna)
; 117(4): 475-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20151311
15.
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Eur J Neurol
; 17(5): 641-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20298421
16.
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Eur J Neurol
; 17(2): 179-88, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20050888
17.
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Brain
; 132(Pt 10): 2688-98, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19696032
18.
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.
Dis Model Mech
; 13(10)2020 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097556
19.
Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites.
Neuropathol Appl Neurobiol
; 35(5): 515-27, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19207264
20.
Prion mutation D178N with highly variable disease onset and phenotype.
J Neurol Neurosurg Psychiatry
; 80(3): 345-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19228673