Detalhe da pesquisa
1.
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
N Engl J Med
; 388(2): 128-141, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516086
2.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
3.
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations.
RNA
; 29(4): 446-454, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669889
4.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol
; 95(2): 400-406, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962377
5.
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Hum Genomics
; 18(1): 35, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38570878
6.
Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition.
Mol Psychiatry
; 29(4): 992-1004, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216727
7.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
8.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain
; 147(6): 2085-2097, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735647
9.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
10.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
11.
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 95(3): 201-205, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041684
12.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
J Neurol Neurosurg Psychiatry
; 95(2): 175-179, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399286
13.
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
14.
NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
J Neurol Neurosurg Psychiatry
; 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38253362
15.
Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2.
Mov Disord
; 39(5): 788-797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419144
16.
Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).
Mov Disord
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847438
17.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Mov Disord
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509638
18.
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.
Mov Disord
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38847051
19.
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative.
Cerebellum
; 23(2): 391-400, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869969
20.
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism.
Cerebellum
; 23(2): 757-774, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37155088