Detalhe da pesquisa
1.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203352
2.
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
J Peripher Nerv Syst
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581130
3.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947133
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.
Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.
J Neurosci
; 42(25): 5085-5101, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589390
6.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
7.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet
; 102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499166
8.
A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z.
J Peripher Nerv Syst
; 26(2): 184-186, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33844363
9.
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
10.
Optic Neuropathy in Charcot-Marie-Tooth Disease.
J Neuroophthalmol
; 41(2): 233-238, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32441898
11.
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Ann Neurol
; 85(3): 316-330, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706531
12.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
13.
Reliability of the Charcot-Marie-Tooth functional outcome measure.
J Peripher Nerv Syst
; 25(3): 288-291, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32844461
14.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet
; 99(3): 607-623, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588448
15.
Yield of next-generation neuropathy gene panels in axonal neuropathies.
J Peripher Nerv Syst
; 24(4): 324-329, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701603
16.
POLG mutations presenting as Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(2): 213-218, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843307
17.
Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.
Proc Natl Acad Sci U S A
; 113(17): E2421-9, 2016 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27035961
18.
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.
Hum Mutat
; 39(5): 635-642, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29473246
19.
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.
Muscle Nerve
; 57(2): 255-259, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28632967
20.
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