Detalhe da pesquisa
1.
Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33653949
2.
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
3.
Recent advances in the treatment of Charcot-Marie-Tooth neuropathies.
J Peripher Nerv Syst
; 28(2): 134-149, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36855793
4.
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
5.
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
6.
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Hum Mol Genet
; 24(2): 383-96, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25187576
7.
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
PLoS Genet
; 7(10): e1002319, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22028665
8.
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
J Neurosci
; 29(27): 8858-70, 2009 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-19587293
9.
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Glia
; 58(16): 2005-16, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20878767
10.
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
J Neurol Neurosurg Psychiatry
; 81(9): 958-62, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660910
11.
Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.
Nat Commun
; 11(1): 2835, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32503983
12.
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
J Cell Biol
; 167(4): 711-21, 2004 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15557122
13.
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
Mol Neurobiol
; 35(3): 308-16, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17917119
14.
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Expert Rev Mol Med
; 9(25): 1-16, 2007 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17880751
15.
Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
Neuromuscul Disord
; 27(5): 487-491, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190646
16.
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
J Neurosci
; 25(37): 8567-77, 2005 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-16162938
17.
Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.
EMBO Mol Med
; 8(12): 1438-1454, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27799291
18.
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene
; 283(1-2): 17-26, 2002 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-11867209
19.
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
Arch Neurol
; 67(12): 1498-505, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21149811
20.
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
Hum Mol Genet
; 12 Spec No 2: R285-92, 2003 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12925573