Detalhe da pesquisa
1.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366623
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.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Mov Disord
; 39(1): 209-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054570
4.
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
5.
Supporting Evidence of Human Enteric Nervous System Adult Neurogenesis: Presence of Primary Cilia and Adult Neurogenesis Markers.
Cell Mol Neurobiol
; 42(2): 473-481, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33237455
6.
Frequency, Predictors, Etiology, and Outcomes for Deep Intracerebral Hemorrhage without Hypertension.
J Stroke Cerebrovasc Dis
; 31(3): 106293, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35016096
7.
Primary cilia presence and implications in bladder cancer progression and invasiveness.
Histochem Cell Biol
; 155(5): 547-560, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495938
8.
Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes.
J Stroke Cerebrovasc Dis
; 30(12): 106130, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597987
9.
Hedgehog signalling pathway activation in gastrointestinal stromal tumours is mediated by primary cilia.
Gastric Cancer
; 23(1): 64-72, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267361
10.
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
11.
Spheresomes are the main extracellular vesicles in low-grade gliomas.
Sci Rep
; 13(1): 11180, 2023 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37430101
12.
Cenobamate in patients with highly refractory focal epilepsy: A retrospective real-world study.
Seizure
; 111: 71-77, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549616
13.
Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia.
Neurol Genet
; 9(5): e200094, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646005
14.
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Sci Rep
; 13(1): 9737, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322040
15.
Stromal cells of giant cell tumor of bone show primary cilia in giant cell tumor of bone.
Microsc Res Tech
; 85(3): 1065-1074, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761465
16.
Impact on functional outcome of an adaptive Stroke Unit based system of care for patients undergoing endovascular treatment during pandemic times.
Eur Stroke J
; 7(3): 248-256, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082253
17.
Autoimmune GFAP astrocytopathy presenting with remarkable CNS hyperexcitability and oculogyric crises.
J Neuroimmunol
; 359: 577695, 2021 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34416409
18.
Management of an outbreak of botulism with benign clinical presentation.
J Clin Neurosci
; 88: 159-162, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33992177
19.
Ultrastructural and immunohistochemical study of phenotypic switch in gastrointestinal smooth muscle cells.
Microsc Res Tech
; 81(11): 1233-1240, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394613