Detalhe da pesquisa
1.
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Am J Hum Genet
; 109(3): 518-532, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35108495
2.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Genet Med
; 26(6): 101117, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459834
3.
Sensing and Microbiological Activity of a New Blue Fluorescence Polyamidoamine Dendrimer Modified with 1,8-Naphthalimide Units.
Molecules
; 29(9)2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38731451
4.
An Adapted GeneSwitch Toolkit for Comparable Cellular and Animal Models: A Proof of Concept in Modeling Charcot-Marie-Tooth Neuropathy.
Int J Mol Sci
; 24(22)2023 Nov 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003325
5.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
6.
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 526(7575): 710-4, 2015 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503042
7.
Study of the Mechanism of the Antimicrobial Activity of Novel Water Soluble Ammonium Quaternary Benzanthrone on Model Membranes.
J Membr Biol
; 253(3): 247-256, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393995
8.
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
9.
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry
; 90(10): 1171-1179, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31167812
10.
Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.
Nucleic Acids Res
; 45(13): 8091-8104, 2017 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28531329
11.
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.
Am J Hum Genet
; 96(5): 808-15, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865495
12.
Axonal neuropathy with neuromyotonia: there is a HINT.
Brain
; 140(4): 868-877, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007994
13.
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain
; 140(2): 287-305, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28137957
14.
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Brain
; 140(8): 2093-2103, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28633435
15.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum Mutat
; 38(3): 297-309, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008748
16.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
17.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(6): 1251, 2019 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31173719
18.
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
Ann Neurol
; 80(6): 823-833, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27686364
19.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Brain
; 139(Pt 6): 1649-56, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27009151
20.
Corrigendum: CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
Nature
; 532(7599): 402, 2016 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789244