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.
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
3.
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
4.
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
5.
Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia.
Eur J Neurol
; : e16367, 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38859620
6.
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.
Brain
; 146(3): 1093-1102, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472722
7.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain
; 146(5): 2003-2015, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315648
8.
Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography.
Eur J Neurol
; 30(8): 2442-2452, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154411
9.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet
; 104(4): 767-773, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929741
10.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
Genet Med
; 24(12): 2487-2500, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136088
11.
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia.
Mov Disord
; 37(5): 1047-1058, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067979
12.
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study.
Mov Disord
; 37(12): 2417-2426, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054444
13.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mov Disord
; 37(12): 2440-2446, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36103453
14.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150594
15.
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
BMC Neurol
; 22(1): 115, 2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331153
16.
Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.
Int J Mol Sci
; 23(21)2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36362248
17.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
18.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
J Inherit Metab Dis
; 44(3): 777-786, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33089527
19.
Assessing non-Mendelian inheritance in inherited axonopathies.
Genet Med
; 22(12): 2114-2119, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741968
20.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052