Detalhe da pesquisa
1.
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
Brain
; 142(7): 1905-1920, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31143934
2.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389403
3.
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
J Hum Genet
; 64(11): 1083-1090, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501477
4.
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Am J Med Genet A
; 179(2): 306-311, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561119
5.
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Hum Mol Genet
; 24(11): 3143-54, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701871
6.
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Cytogenet Genome Res
; 147(1): 10-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26658296
7.
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
8.
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
9.
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Hum Mutat
; 34(8): 1160-71, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649844
10.
Sperm macrocephaly syndrome in a patient without AURKC mutations and with a history of recurrent miscarriage.
Reprod Biomed Online
; 26(2): 148-56, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273756
11.
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
Neurogenetics
; 13(3): 205-14, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22552818
12.
Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes.
Biol Proced Online
; 13: 10, 2011 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-22035318
13.
Missense mutations in the AFG3L2 proteolytic domain account for â¼1.5% of European autosomal dominant cerebellar ataxias.
Hum Mutat
; 31(10): 1117-24, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20725928
14.
Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.
Mov Disord
; 25(9): 1269-73, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20629122
15.
Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.
Cerebellum
; 9(1): 115-23, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082166
16.
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2.
BMJ Case Rep
; 13(12)2020 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318253
17.
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Eur J Med Genet
; 62(11): 103578, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445150
18.
A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia.
Mov Disord
; 23(10): 1468-71, 2008 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18566986
19.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
J Mol Diagn
; 20(3): 289-297, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462666
20.
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
Brain
; 129(Pt 1): 235-42, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16251216