Detalhe da pesquisa
1.
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
Brain
; 147(4): 1389-1398, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37831662
2.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
3.
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
4.
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
5.
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Mov Disord
; 39(3): 510-518, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140802
6.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
7.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079474
8.
A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice.
Cell
; 137(5): 961-71, 2009 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19490899
9.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
10.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Mov Disord
; 38(4): 654-664, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695111
11.
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
Eur J Neurol
; 30(8): 2525-2533, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37158303
12.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
13.
Idebenone Treatment in Patients with OPA1-Dominant Optic Atrophy: A Prospective Phase 2 Trial.
Neuroophthalmology
; 47(5-6): 237-247, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38130806
14.
Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders.
Neurobiol Dis
; 175: 105920, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351559
15.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
16.
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
17.
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
Mamm Genome
; 32(5): 332-349, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043061
18.
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Ophthalmology
; 128(5): 649-660, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451738
19.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
20.
Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord
; 36(9): 2005-2016, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002881