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.
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clin Genet
; 105(4): 446-452, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221848
3.
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
4.
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Brain
; 146(10): 4144-4157, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165652
5.
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.
Eur J Neurol
; 30(12): 3828-3833, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578187
6.
The J Domain of Sacsin Disrupts Intermediate Filament Assembly.
Int J Mol Sci
; 23(24)2022 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555380
7.
BAG3P215L/KO Mice as a Model of BAG3P209L Myofibrillar Myopathy.
Am J Pathol
; 190(3): 554-562, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31953038
8.
Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
Ann Neurol
; 87(4): 568-583, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970803
9.
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
J Biol Chem
; 294(18): 7445-7459, 2019 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898877
10.
Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation.
Can J Neurol Sci
; 47(3): 400-403, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31987065
11.
Structures of ubiquitin-like (Ubl) and Hsp90-like domains of sacsin provide insight into pathological mutations.
J Biol Chem
; 293(33): 12832-12842, 2018 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29945973
12.
Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Mov Disord
; 38(8): 1575-1577, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565404
13.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
Brain
; 140(1): 37-48, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816943
14.
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.
Neurogenetics
; 17(2): 137-41, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915362
15.
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
Brain
; 138(Pt 6): 1477-83, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25818867
16.
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
PLoS Biol
; 10(3): e1001288, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22448145
17.
Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family.
Can J Neurol Sci
; 47(3): 412-415, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32036797
18.
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.
EBioMedicine
; 102: 105076, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38507876
19.
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
medRxiv
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405699
20.
Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
J Neurol
; 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38886208