Detalhe da pesquisa
1.
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
2.
Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.
J Med Genet
; 52(10): 681-90, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246519
3.
The classification of Charcot-Marie-Tooth diseases, a never-ending story: CMT4?
Brain
; 141(9): e70, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084872
4.
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
J Peripher Nerv Syst
; 18(2): 113-29, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23781959
5.
Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.
Ann Neurol
; 80(3): 477, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458975
6.
[Hereditary neuropathies]. / Neuropathies génétiques.
Rev Prat
; 58(17): 1917-22, 2008 Nov 15.
Artigo
em Francês
| MEDLINE | ID: mdl-19157208
7.
Updating the classification of inherited neuropathies: Results of an international survey.
Neurology
; 90(10): e870-e876, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429969
8.
Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.
J Neuropathol Exp Neurol
; 77(2): 88-99, 2018 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300988
9.
Autosomal-recessive Charcot-Marie-Tooth diseases.
J Neuropathol Exp Neurol
; 64(5): 363-70, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15892292
10.
[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
11.
Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update.
J Neurol Sci
; 347(1-2): 14-22, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454638
12.
Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
Neuromuscul Disord
; 24(6): 524-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24792522
13.
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Neuromuscul Disord
; 21(8): 543-50, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21741241
14.
[Hereditary peripheral neuropathies]. / Neuropathies périphériques héréditaires.
Presse Med
; 38(9): 1325-34, 2009 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-19327944
15.
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
16.
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Am J Hum Genet
; 70(3): 726-36, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11799477