Detalhe da pesquisa
1.
Novel clinicopathological characteristics differentiate dementia with Lewy bodies from Parkinson's disease dementia.
Neuropathol Appl Neurobiol
; 47(1): 143-156, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720329
2.
Review: Clinical, neuropathological and genetic features of Lewy body dementias.
Neuropathol Appl Neurobiol
; 45(7): 635-654, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977926
3.
A panel of nine cerebrospinal fluid biomarkers may identify patients with atypical parkinsonian syndromes.
J Neurol Neurosurg Psychiatry
; 86(11): 1240-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589779
4.
Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS.
medRxiv
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529496
5.
The role of torsinA in dystonia.
Eur J Neurol
; 17 Suppl 1: 81-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20590813
6.
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
Clin Genet
; 75(5): 485-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19459885
8.
Identification of candidate cerebrospinal fluid biomarkers in parkinsonism using quantitative proteomics.
Parkinsonism Relat Disord
; 37: 65-71, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28214264
9.
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Hum Mutat
; 21(2): 170, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12552568
10.
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm.
Neurology
; 58(1): 124-6, 2002 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-11781417
11.
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia.
J Neurol Sci
; 216(1): 43-5, 2003 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14607301
12.
Reactivation of tuberculous lymphadenitis during pregnancy.
J Infect
; 24(2): 181-4, 1992 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-1569309
13.
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14.
J Med Genet
; 42(1): 80-2, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15635080
14.
CDIP-58 can measure the impact of botulinum toxin treatment in cervical dystonia.
Neurology
; 67(12): 2230-2, 2006 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-17190951
15.
Increased rate of whole-brain atrophy over 6 months in early Huntington disease.
Neurology
; 67(4): 694-6, 2006 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-16924028
16.
Genetic counselling in mitochondrial diseases.
Curr Opin Neurol
; 10(5): 408-12, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9330887
17.
The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.
J Neurol Neurosurg Psychiatry
; 65(3): 378-9, 1998 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-9728955
18.
Dystonia: an update on genetics and treatment.
Curr Opin Neurol
; 14(4): 471-5, 2001 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-11470963
19.
Chromosomes from the epithelium of plucked human telogen hairs.
Hum Genet
; 63(4): 315-6, 1983.
Artigo
em Inglês
| MEDLINE | ID: mdl-6862434
20.
Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom.
Mov Disord
; 9(3): 289-96, 1994 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-8041369