Detalhe da pesquisa
1.
Hsp90 Inhibition: A Promising Therapeutic Approach for ARSACS.
Int J Mol Sci
; 22(21)2021 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34769152
2.
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
Int J Mol Sci
; 22(14)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299126
3.
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Hum Mol Genet
; 26(16): 3130-3143, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28535259
4.
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Brain
; 141(4): 989-999, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29538656
5.
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Hum Mol Genet
; 25(15): 3232-3244, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27288452
6.
The role of interruptions in polyQ in the pathology of SCA1.
PLoS Genet
; 9(7): e1003648, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935513
7.
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.
J Neurol Neurosurg Psychiatry
; 89(11): 1226-1227, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29367260
8.
A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia.
Nat Med
; 29(1): 86-94, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658420
9.
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.
Antioxidants (Basel)
; 11(8)2022 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35892638
10.
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Cell Rep
; 41(5): 111580, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36323248
11.
The developmentally regulated expression of Twisted gastrulation reveals a role for bone morphogenetic proteins in the control of T cell development.
J Exp Med
; 196(2): 163-71, 2002 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12119341
12.
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
J Neurol Neurosurg Psychiatry
; 84(1): 114-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23123642
13.
PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption.
Front Cell Neurosci
; 12: 200, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108484
14.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Front Cell Neurosci
; 12: 429, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532692
15.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
J Mol Diagn
; 20(3): 289-297, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29462666
16.
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
Neurobiol Aging
; 35(2): 443.e1-3, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24041967
17.
Specific binding of Bluetongue virus NS2 to different viral plus-strand RNAs.
Virology
; 353(1): 17-26, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16872657