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.
Nerve pathology in animal models of neuropathies.
J Peripher Nerv Syst
; 26 Suppl 2: S61-S68, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498774
5.
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
6.
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
7.
Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.
PLoS Biol
; 14(4): e1002440, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27070899
8.
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy.
Hum Mol Genet
; 24(12): 3372-89, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749991
9.
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
10.
Vimentin regulates peripheral nerve myelination.
Development
; 139(7): 1359-67, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357929
11.
DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination.
J Neurosci
; 33(38): 15295-305, 2013 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24048858
12.
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
13.
Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis.
Mol Ther Methods Clin Dev
; 25: 170-189, 2022 Jun 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35434178
14.
Myelin Biology.
Neurotherapeutics
; 18(4): 2169-2184, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244924
15.
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
16.
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Glia
; 58(16): 2005-16, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20878767
17.
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
18.
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.
J Peripher Nerv Syst
; 20(4): 419-21, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768280
19.
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
20.
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