Detalhe da pesquisa
1.
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
J Peripher Nerv Syst
; 28(3): 359-367, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37306961
2.
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Clin Genet
; 102(5): 379-390, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882622
3.
Focus on cell therapy to treat corneal endothelial diseases.
Exp Eye Res
; 204: 108462, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493477
4.
CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.
PLoS Comput Biol
; 16(2): e1007503, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32049956
5.
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.
Hum Genet
; 138(5): 455-466, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30955094
6.
Analysis of CDKN2A gene alterations in recurrent and non-recurrent meningioma.
J Neurooncol
; 145(3): 449-459, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729637
7.
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
J Peripher Nerv Syst
; 24(1): 139-144, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734407
8.
A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
J Peripher Nerv Syst
; 22(2): 77-84, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28448692
9.
New Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.
Anal Chem
; 88(13): 6696-702, 2016 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27263863
10.
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
J Med Genet
; 52(10): 681-90, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246519
11.
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
Pharmaceuticals (Basel)
; 17(3)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38543100
12.
Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.
Pharmaceuticals (Basel)
; 16(7)2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37513945
13.
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Biomedicines
; 11(6)2023 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371660
14.
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
J Pers Med
; 12(2)2022 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207700
15.
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.
Biomedicines
; 10(8)2022 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009593
16.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205364
17.
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Comput Struct Biotechnol J
; 19: 4265-4272, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429846
18.
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.
Biomedicines
; 9(8)2021 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440148
19.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405357
20.
One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.
Brain Sci
; 10(12)2020 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333791