Detalhe da pesquisa
1.
Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
; 39(5): 897-905, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436103
2.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain
; 145(3): 1029-1037, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983064
3.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
Brain
; 144(9): 2798-2811, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687211
4.
Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 92(5): 485-493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33239440
5.
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: from tailored references to clinical applications.
J Neurol Neurosurg Psychiatry
; 92(12): 1278-1288, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34349004
6.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain
; 143(1): 303-319, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855245
7.
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Am J Hum Genet
; 93(1): 118-23, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23746551
8.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Ann Neurol
; 78(6): 871-86, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26288984
9.
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Mov Disord
; 30(2): 262-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25545641
10.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Brain
; 137(Pt 9): 2444-55, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24972706
11.
Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.
J Med Genet
; 51(7): 479-86, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24780882
12.
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia.
J Med Genet
; 50(8): 543-51, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749989
13.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
medRxiv
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746197
14.
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine
; 99: 104931, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38150853
15.
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
Hum Mol Genet
; 20(3): 615-27, 2011 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21084426
16.
The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington disease.
Mutat Res
; 755(2): 115-9, 2013 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830927
17.
Modifications of the endosomal compartment in fibroblasts from sporadic Alzheimer's disease patients are associated with cognitive impairment.
Transl Psychiatry
; 13(1): 54, 2023 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788216
18.
New class of RNA biomarker for endometriosis diagnosis: The potential of salivary piRNA expression.
Eur J Obstet Gynecol Reprod Biol
; 291: 88-95, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857147
19.
Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
Tremor Other Hyperkinet Mov (N Y)
; 13: 22, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37457636
20.
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Hum Mutat
; 32(10): 1118-27, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21618648