Detalhe da pesquisa
1.
Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.
PLoS Genet
; 9(4): e1003415, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593020
2.
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Nat Genet
; 39(9): 1068-70, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17660820
3.
Dysferlin regulates cell adhesion in human monocytes.
J Biol Chem
; 288(20): 14147-14157, 2013 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23558685
4.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Am J Hum Genet
; 88(6): 796-804, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596365
5.
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice.
Cephalalgia
; 34(3): 174-82, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23985897
6.
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution.
Am J Hum Genet
; 86(3): 364-77, 2010 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20206332
7.
Self-regulated alternative splicing at the AHNAK locus.
FASEB J
; 26(1): 93-103, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21940993
8.
Migraine is not associated with enhanced atherosclerosis.
Cephalalgia
; 33(4): 228-35, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23147163
9.
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nat Genet
; 35(4): 315-7, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14634647
10.
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Nat Genet
; 32(2): 235-6, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12355084
11.
Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.
Cerebellum
; 11(1): 246-58, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21870131
12.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Brain
; 139(11): 2909-2922, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604306
13.
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).
PLoS Genet
; 5(7): e1000559, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19593370
14.
High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
Ann Neurol
; 67(1): 85-98, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186955
15.
A long-term follow-up study of 18 patients with sporadic hemiplegic migraine.
Cephalalgia
; 31(2): 199-205, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20974584
16.
Quantitative cortical synapse proteomics of a transgenic migraine mouse model with mutated Ca(V)2.1 calcium channels.
Proteomics
; 10(13): 2531-5, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20391530
17.
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.
J Neurophysiol
; 104(3): 1445-55, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20631222
18.
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Hum Mol Genet
; 17(12): 1855-66, 2008 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18334579
19.
A high-density association screen of 155 ion transport genes for involvement with common migraine.
Hum Mol Genet
; 17(21): 3318-31, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18676988
20.
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.
Hum Mutat
; 30(10): 1449-59, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19728363