Detalhe da pesquisa
1.
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
2.
Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A.
Biomater Res
; 28: 0009, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38560579
3.
Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.
Ann Neurol
; 71(5): 719-23, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522483
4.
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
5.
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
6.
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
7.
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
8.
Curcumin-cyclodextrin/cellulose nanocrystals improve the phenotype of Charcot-Marie-Tooth-1A transgenic rats through the reduction of oxidative stress.
Free Radic Biol Med
; 161: 246-262, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980538
9.
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
10.
Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients.
Brain Sci
; 10(7)2020 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32605002
11.
[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]. / Anomalies ultrastructurales des mitochondries axonales chez des patients atteints de formes précoces de maladie de Charcot-Marie-Tooth dues à des mutations de la mitofusine 2.
Bull Acad Natl Med
; 193(1): 151-60; discussion 160-1, 2009 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-19718987
12.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Mol Genet Genomic Med
; 7(9): e875, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338985
13.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Mol Genet Genomic Med
; 7(9): e839, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393079
14.
A highly specific microarray method for point mutation detection.
Biotechniques
; 44(1): 119-26, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18254389
15.
Intra-articular Gentamicin-loaded PLA Microparticle Injection for the Treatment of Septic Arthritis in Rabbits.
J Am Acad Orthop Surg
; 26(16): e349-e356, 2018 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29985244
16.
Autosomal-recessive Charcot-Marie-Tooth diseases.
J Neuropathol Exp Neurol
; 64(5): 363-70, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15892292
17.
[Autosomal recessive forms of Charcot-Marie-Tooth disease]. / Formes autosomales récessives de la maladie de Charcot-Marie-Tooth.
Bull Acad Natl Med
; 189(1): 55-68; discussion 68-9, 2005 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-16119880
18.
Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.
Res Lett Biochem
; 2009: 960560, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-22820753
19.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Arch Neurol
; 66(12): 1511-6, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20008656
20.
Diagnostic value of ultrastructural nerve examination in Charcot-Marie-Tooth disease: two CMT 1B cases with pseudo-recessive inheritance.
Acta Neuropathol
; 113(4): 443-9, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17294201