Detalhe da pesquisa
1.
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
Brain
; 145(4): 1519-1534, 2022 05 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34788392
2.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Hum Mutat
; 39(1): 140-151, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29034544
3.
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.
Am J Hum Genet
; 94(2): 268-77, 2014 Feb 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24388663
4.
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Brain
; 139(Pt 6): 1723-34, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27016404
5.
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Am J Hum Genet
; 91(6): 1051-64, 2012 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23176821
6.
Interferon ß induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
Brain
; 136(Pt 6): 1732-45, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23518714
7.
Implication of folate deficiency in CYP2U1 loss of function.
J Exp Med
; 218(11)2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34546337
8.
Developmental cell death is enhanced in the cerebral cortex of mice lacking the brain vesicular monoamine transporter.
J Neurosci
; 27(6): 1315-24, 2007 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-17287506
9.
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
Arch Neurol
; 61(8): 1314-20, 2004 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-15313853
10.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Eur J Hum Genet
; 20(6): 645-9, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22258533
11.
Prokineticin 2 expression is associated with neural repair of injured adult zebrafish telencephalon.
J Neurotrauma
; 27(5): 959-72, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20102264
12.
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity.
Mol Cell Neurosci
; 31(3): 438-45, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16325416
13.
PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases.
Neurobiol Dis
; 13(3): 230-7, 2003 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-12901837
14.
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
Brain
; 125(Pt 7): 1534-43, 2002 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-12077003