Detalhe da pesquisa
1.
Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
Hum Mol Genet
; 27(16): 2775-2788, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741626
2.
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.
Mov Disord
; 33(2): 196-207, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315801
3.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Am J Hum Genet
; 95(6): 729-35, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434005
4.
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.
Eur Heart J
; 37(33): 2586-90, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106955
5.
Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
Hum Mol Genet
; 19(8): 1593-602, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20106870
6.
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort.
Front Neurol
; 11: 523, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670181
7.
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.
Mol Brain
; 13(1): 52, 2020 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228644
8.
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.
Parkinsonism Relat Disord
; 64: 308-311, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30928208
9.
Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.
Brain Res
; 1201: 177-86, 2008 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-18295750
10.
Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.
Stem Cell Res
; 28: 161-164, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499499
11.
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Eur J Hum Genet
; 22(6): 741-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105366
12.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Orphanet J Rare Dis
; 9: 43, 2014 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24674232
13.
ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.
Eur J Hum Genet
; 20(5): 505-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22234159
14.
Molecular analysis of the PArkin co-regulated gene and association with male infertility.
Fertil Steril
; 93(7): 2262-8, 2010 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19268936
15.
Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function.
Neurosci Lett
; 460(1): 97-101, 2009 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19463890
16.
Experimental autoimmune Goodpasture's disease: a pathogenetic role for both effector cells and antibody in injury.
Kidney Int
; 67(2): 566-75, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15673304
17.
IL-12p40 and IL-18 in crescentic glomerulonephritis: IL-12p40 is the key Th1-defining cytokine chain, whereas IL-18 promotes local inflammation and leukocyte recruitment.
J Am Soc Nephrol
; 16(7): 2023-33, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15888563
18.
Experimental autoimmune anti-glomerular basement membrane glomerulonephritis: a protective role for IFN-gamma.
J Am Soc Nephrol
; 15(7): 1764-74, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15213264