Detalhe da pesquisa
1.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Am J Hum Genet
; 110(8): 1343-1355, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541188
2.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
3.
BMP- and neuropilin 1-mediated motor axon navigation relies on spastin alternative translation.
Development
; 145(17)2018 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30082270
4.
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Am J Med Genet A
; 185(11): 3446-3458, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34436830
5.
ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.
Cell Mol Life Sci
; 77(13): 2641-2658, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31587092
6.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Am J Hum Genet
; 100(2): 364-370, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28157540
7.
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Brain
; 141(5): 1286-1299, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29481671
8.
Hereditary spastic paraplegias: membrane traffic and the motor pathway.
Nat Rev Neurosci
; 12(1): 31-42, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21139634
9.
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Nat Genet
; 39(8): 963-5, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17632510
10.
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
Biochim Biophys Acta
; 1832(1): 160-73, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23085491
11.
Reticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons.
Hum Mol Genet
; 21(15): 3356-65, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543973
12.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
medRxiv
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746462
13.
The AAA ATPase spastin links microtubule severing to membrane modelling.
Biochim Biophys Acta
; 1823(1): 192-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21888932
14.
Endocytic membrane fusion and buckling-induced microtubule severing mediate cell abscission.
J Cell Sci
; 124(Pt 9): 1411-24, 2011 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21486954
15.
Ataxia and spastic paraplegia in mitochondrial disease.
Handb Clin Neurol
; 194: 79-98, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36813322
16.
Axonal transport deficit in a KIF5A( -/- ) mouse model.
Neurogenetics
; 13(2): 169-79, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466687
17.
The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics.
J Cell Sci
; 123(Pt 21): 3703-17, 2010 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20923837
18.
AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network.
Mol Biol Cell
; 33(12): ar102, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976706
19.
Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.
Traffic
; 10(1): 42-56, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19000169
20.
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
Hum Mol Genet
; 18(20): 3805-21, 2009 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19620182