Detalhe da pesquisa
1.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
2.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Am J Hum Genet
; 98(4): 597-614, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040688
3.
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
4.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Ann Neurol
; 79(3): 419-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26659848
5.
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
6.
Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.
Neurobiol Dis
; 65: 211-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24521780
7.
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
Pediatr Nephrol
; 28(2): 339-43, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22961558
8.
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nat Genet
; 36(6): 602-6, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15122254
9.
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
10.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain
; 134(Pt 9): 2664-76, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840889
11.
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain
; 132(Pt 10): 2699-711, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19651702
12.
Neuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
Autophagy
; 15(6): 1051-1068, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30669930
13.
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A
; 146A(12): 1530-42, 2008 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478590
14.
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Arch Neurol
; 64(7): 966-70, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17620486
15.
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
J Neurol Sci
; 263(1-2): 100-6, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17663003
16.
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain
; 129(Pt 8): 2093-102, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16714318
17.
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Acta Neuropathol Commun
; 5(1): 5, 2017 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077174
18.
Molecular genetics of hereditary sensory neuropathies.
Neuromolecular Med
; 8(1-2): 147-58, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16775373
19.
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol
; 262(9): 2124-34, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26100331
20.
Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.
Arch Neurol
; 60(3): 329-34, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12633143