Detalhe da pesquisa
1.
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
J Neurol Neurosurg Psychiatry
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38383154
2.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Neuropathol Appl Neurobiol
; 49(2): e12892, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798010
3.
Therapeutic Misestimation in Patients with Degenerative Ataxia: Lessons from a Randomized Controlled Trial.
Mov Disord
; 38(1): 133-137, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36259428
4.
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders.
Cerebellum
; 2023 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37779173
5.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Mov Disord
; 37(9): 1850-1860, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808813
6.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
7.
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
Mov Disord
; 36(12): 2951-2957, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515380
8.
Discordance Between Patient-Reported Outcomes and Physician-Rated Motor Symptom Severity in Early-to-Middle-Stage Spinocerebellar Ataxia Type 3.
Cerebellum
; 20(6): 887-895, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694049
9.
The role of the cerebellum in degenerative ataxias and essential tremor: Insights from noninvasive modulation of cerebellar activity.
Mov Disord
; 35(2): 215-227, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31820832
10.
Network localization of cervical dystonia based on causal brain lesions.
Brain
; 142(6): 1660-1674, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31099831
11.
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
J Med Genet
; 56(5): 308-316, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819809
12.
Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study.
BMC Neurol
; 19(1): 149, 2019 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31272408
13.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Brain
; 140(11): 2860-2878, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053796
14.
Ataxia-telangiectasia: Immunodeficiency and survival.
Clin Immunol
; 178: 45-55, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28126470
15.
Ataxia-telangiectasia: recommendations for multidisciplinary treatment.
Dev Med Child Neurol
; 59(7): 680-689, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318010
16.
Correction to: Cerebellar transcranial direct current stimulation in spinocerebellar ataxia type 3 (SCA3-tDCS): rationale and protocol of a randomized, double-blind, sham-controlled study.
BMC Neurol
; 21(1): 250, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34187386
17.
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Metab Brain Dis
; 31(3): 587-92, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686503
18.
StartReact restores reaction time in HSP: evidence for subcortical release of a motor program.
J Neurosci
; 34(1): 275-81, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24381288
19.
Dynamic cortical gray matter volume changes after botulinum toxin in cervical dystonia.
Neurobiol Dis
; 73: 327-33, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25447226
20.
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
Brain
; 137(Pt 9): 2444-55, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24972706