Detalhe da pesquisa
1.
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
2.
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot-Marie-Tooth neuropathy and lower motor neuron disease.
Eur J Neurol
; 28(4): 1106-1107, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33492783
3.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Hum Mol Genet
; 22(20): 4224-32, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23777631
4.
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
J Peripher Nerv Syst
; 20(1): 52-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676889
5.
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
Clin Neuropathol
; 33(5): 335-43, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24887401
6.
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Brain Pathol
; 34(1): e13200, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37581289
7.
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Glia
; 61(7): 1041-51, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23553667
8.
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
BMC Med Genet
; 14: 92, 2013 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24041033
9.
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
Brain
; 135(Pt 12): 3567-83, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23171661
10.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Brain
; 134(Pt 6): 1839-52, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21576112
11.
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Proc Natl Acad Sci U S A
; 106(41): 17528-33, 2009 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19805030
12.
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
Brain
; 133(Pt 8): 2462-74, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20826437
13.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144514
14.
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Neuromuscul Disord
; 18(6): 483-92, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18511281
15.
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nat Genet
; 36(5): 449-51, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15064763
16.
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
Gene Expr Patterns
; 6(8): 978-84, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16750429
17.
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Arch Neurol
; 60(4): 605-9, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707076
18.
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum.
Neurology
; 83(19): 1726-32, 2014 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25274842
19.
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
Orphanet J Rare Dis
; 8: 41, 2013 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23497566
20.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol
; 259(3): 515-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892769