Detalhe da pesquisa
1.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827498
2.
The Lifeact-EGFP mouse is a translationally controlled fluorescent reporter of T cell activation.
J Cell Sci
; 133(5)2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041902
3.
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Mov Disord
; 37(1): 137-147, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596301
4.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
5.
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Genet Med
; 21(3): 650-662, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961767
6.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS Genet
; 12(7): e1006177, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27438001
7.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740
8.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Ann Neurol
; 79(3): 419-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26659848
9.
Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.
Neurobiol Dis
; 94: 237-44, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27388934
10.
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Hum Genet
; 135(11): 1269-1278, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487800
11.
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
Hum Mol Genet
; 22(7): 1404-16, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23297365
12.
Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.
Neurogenetics
; 15(4): 229-35, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028179
13.
Response to Brodehl et al.
Genet Med
; 21(5): 1248-1249, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262924
14.
Guiding the design of SARS-CoV-2 genomic surveillance by estimating the resolution of outbreak detection.
Front Public Health
; 10: 1004201, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36276383
15.
Co-infection with SARS-CoV-2 Omicron and Delta variants revealed by genomic surveillance.
Nat Commun
; 13(1): 2745, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585202
16.
Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.
Neuromuscul Disord
; 31(11): 1101-1112, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711481
17.
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Neurology
; 96(13): e1770-e1782, 2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568551
18.
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Mol Genet Genomic Med
; 3(2): 143-54, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802885