Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38325380
2.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Ann Neurol
; 94(4): 696-712, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37255483
3.
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat
; 43(6): 765-771, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35181961
4.
Development of a comprehensive cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38766118
5.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Cell Genom
; 3(2): 100258, 2023 Feb 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36819666
6.
LRRK2 in Parkinson's disease: protein domains and functional insights.
Trends Neurosci
; 29(5): 286-93, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16616379
7.
LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?
Trends Mol Med
; 12(2): 76-82, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16406842
8.
Identification of potential protein interactors of Lrrk2.
Parkinsonism Relat Disord
; 13(7): 382-5, 2007 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-17400507
9.
Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2.
Neurosci Lett
; 410(2): 80-4, 2006 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-17095157
10.
LRRK2 R1441G in Spanish patients with Parkinson's disease.
Neurosci Lett
; 382(3): 309-11, 2005 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15925109
11.
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.
Parkinsonism Relat Disord
; 11(6): 349-52, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16102999
12.
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
J Clin Endocrinol Metab
; 87(4): 1778-84, 2002 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-11932316
13.
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Mech Ageing Dev
; 131(3): 210-4, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-20144646
14.
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease.
Neurogenetics
; 8(2): 95-102, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17225181
15.
Lrrk2 pathogenic substitutions in Parkinson's disease.
Neurogenetics
; 6(4): 171-7, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16172858
16.
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
Am J Hum Genet
; 76(4): 672-80, 2005 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15726496