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.
Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.
Hum Mol Genet
; 24(15): 4397-406, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25972375
3.
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Brain
; 139(Pt 6): 1649-56, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27009151
4.
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.
Neurobiol Dis
; 68: 180-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24807208
5.
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
PLoS Genet
; 7(12): e1002399, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144914
6.
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Neurol Genet
; 6(5): e496, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802955
7.
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
J Clin Invest
; 130(3): 1506-1512, 2020 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065591
8.
A novel AARS mutation in a family with dominant myeloneuropathy.
Neurology
; 84(20): 2040-7, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25904691
9.
GARS axonopathy: not every neuron's cup of tRNA.
Trends Neurosci
; 33(2): 59-66, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20152552
10.
Eikenella corrodens as a causative agent for neonatal conjunctivitis.
J AAPOS
; 12(5): 524-5, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18562227