Detalhe da pesquisa
1.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet;
105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31564437
2.
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Am J Hum Genet;
100(2): 297-315, 2017 02 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28132687
3.
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Am J Hum Genet;
96(3): 432-9, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25683121
4.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet;
92(6): 946-54, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23664116
5.
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Hum Mol Genet;
22(2): 398-407, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23077215
6.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Am J Hum Genet;
91(2): 349-57, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22863195
7.
RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.
Breast Cancer Res;
15(6): R120, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24359560
8.
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Am J Med Genet A;
161A(9): 2158-66, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23913520
9.
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.
Hum Mol Genet;
19(8): 1492-506, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20097677
10.
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate.
Hum Mol Genet;
18(19): 3645-58, 2009 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19584083
11.
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy.
Hum Genet;
123(2): 141-53, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18172693
12.
A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
J Child Neurol;
29(2): 254-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24334346
13.
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.
J Bone Miner Res;
29(6): 1387-91, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24293101
14.
Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
Neuromuscul Disord;
24(2): 156-61, 2014 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24300783
15.
How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches.
Curr Opin Genet Dev;
23(3): 330-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23602330
16.
Histone acetylation as a potential therapeutic target in motor neuron degenerative diseases.
Curr Pharm Des;
19(28): 5093-104, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23448465
17.
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Eur J Hum Genet;
21(6): 643-52, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23073311