Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
3.
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
Am J Hum Genet
; 100(4): 617-634, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28366443
4.
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Am J Med Genet A
; 182(8): 1906-1912, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573057
5.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
PLoS Genet
; 11(3): e1005050, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749076
6.
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
em Inglês
| MEDLINE | ID: mdl-24890387
7.
Plp1 gene duplication inhibits airway responsiveness and induces lung inflammation.
Pulm Pharmacol Ther
; 30: 22-31, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25445931
8.
Gait abnormalities and progressive myelin degeneration in a new murine model of Pelizaeus-Merzbacher disease with tandem genomic duplication.
J Neurosci
; 33(29): 11788-99, 2013 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-23864668
9.
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Mol Genet Metab
; 111(3): 393-398, 2014 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24374284
10.
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Semin Neurol
; 32(1): 62-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422208
11.
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].
Mol Genet Metab
; 119(3): 293, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27780564
12.
Genome sequencing in persistently unsolved white matter disorders.
Ann Clin Transl Neurol
; 7(1): 144-152, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912665
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
em Inglês
| MEDLINE | ID: mdl-19562355
14.
A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).
Am J Med Genet A
; 149A(8): 1698-705, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19610109
15.
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.
Genome Med
; 11(1): 80, 2019 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31818324
16.
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
Mol Ther Nucleic Acids
; 12: 420-432, 2018 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30195779
17.
Auditory function in Pelizaeus-Merzbacher disease.
J Neurol
; 265(7): 1580-1589, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725841
18.
Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
Hum Mutat
; 27(1): 69-77, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16287154
19.
Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Brain
; 128(Pt 4): 743-51, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15689360
20.
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Ann Clin Transl Neurol
; 2(6): 648-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125040