Detalhe da pesquisa
1.
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Brain
; 2024 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481354
2.
Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.
Eur J Neurol
; 31(5): e16199, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409938
3.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Brain
; 146(10): 4025-4032, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337674
4.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
5.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
6.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332
7.
A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
J Peripher Nerv Syst
; 25(3): 303-307, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412171
8.
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
J Neurol Neurosurg Psychiatry
; 90(8): 895-906, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30995999
9.
Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 94(4): 327-328, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376020
10.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
J Neurol Neurosurg Psychiatry
; 88(7): 575-585, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28501821
11.
MFN2 deletion of exons 7 and 8: founder mutation in the UK population.
J Peripher Nerv Syst
; 20(2): 67-71, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26114802
12.
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
J Neurol Neurosurg Psychiatry
; 83(12): 1204-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22851605
13.
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
J Neurol Neurosurg Psychiatry
; 83(7): 706-10, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577229
14.
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
J Peripher Nerv Syst
; 17(2): 201-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734906
15.
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Neurology
; 94(1): e51-e61, 2020 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827005
16.
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Cells
; 9(4)2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32326241
17.
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.
Brain
; 135(Pt 8): e217, 1-6; author reply e218, 1-2, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22382358
18.
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Neuromuscul Disord
; 27(1): 50-56, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816334
19.
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Neurology
; 83(7): 612-9, 2014 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25008398
20.
Clinical implications of genetic advances in Charcot-Marie-Tooth disease.
Nat Rev Neurol
; 9(10): 562-71, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24018473