Detalhe da pesquisa
1.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30982609
2.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
PLoS Genet
; 11(3): e1005050, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25749076
3.
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
Hum Mol Genet
; 23(20): 5464-78, 2014 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24890387
4.
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Hum Mol Genet
; 21(8): 1794-807, 2012 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22210628
5.
Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
J Neurosci Res
; 92(12): 1723-32, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25156430
6.
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Hum Mutat
; 34(6): 860-3, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23483706
7.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Am J Hum Genet
; 86(3): 343-52, 2010 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20170900
8.
Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.
Hum Mol Genet
; 19(14): 2767-79, 2010 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20430936
9.
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Semin Neurol
; 32(1): 62-7, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22422208
10.
Extensive aspartoacylase expression in the rat central nervous system.
Glia
; 59(10): 1414-34, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21598311
11.
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
Brain
; 133(Pt 5): 1391-402, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20395263
12.
Maintenance of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK.
Eur J Neurosci
; 30(11): 2030-41, 2009 Dec 03.
Artigo
Inglês
| MEDLINE | ID: mdl-20128842
13.
Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
Acta Neuropathol
; 118(4): 531-9, 2009 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-19562355
14.
Aspartoacylase is a regulated nuclear-cytoplasmic enzyme.
FASEB J
; 20(12): 2139-41, 2006 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-16935940
15.
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Hum Mutat
; 27(1): 69-77, 2006 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16287154
16.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Brain
; 128(Pt 4): 743-51, 2005 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-15689360
17.
Hereditary motor and sensory neuropathies: a biological perspective.
Lancet Neurol
; 1(2): 110-8, 2002 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12849515
18.
Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease.
J Neurol Sci
; 335(1-2): 75-81, 2013 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24139698
19.
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.
J Neurol Sci
; 314(1-2): 130-7, 2012 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22050953
20.
Auditory testing profiles of Pelizaeus-Merzbacher disease.
Int J Pediatr Otorhinolaryngol Extra
; 6(1): 23-29, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34434289