Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia.
Hum Mol Genet
; 32(13): 2241-2250, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37027192
3.
Genetic Determined Iron Starvation Signature in Friedreich's Ataxia.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38686449
4.
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
5.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853291
6.
CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.
Handb Exp Pharmacol
; 279: 227-248, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36592223
7.
Familial writer's cramp: a clinical clue for inherited coenzyme Q10 deficiency.
Neurogenetics
; 22(1): 81-86, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32830305
8.
Female sexual dysfunction in multiple system atrophy: a prospective cohort study.
Clin Auton Res
; 31(6): 713-717, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491468
9.
Toward quantitative neuroimaging biomarkers for Friedreich's ataxia at 7 Tesla: Susceptibility mapping, diffusion imaging, R2 and R1 relaxometry.
J Neurosci Res
; 98(11): 2219-2231, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32731306
10.
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant.
Mov Disord
; 39(3): 631-632, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38525591
11.
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
Mov Disord
; 39(1): 29-35, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964479
12.
Genome Aggregation Database Version 4-New Challenges of Variant Analysis in Movement Disorders.
Mov Disord
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38516945
13.
Reply to: "Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants".
Mov Disord
; 38(6): 1119-1120, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37475612
14.
Confirmation of a Causal Role for SHQ1 Variants in Early Infantile-Onset Recessive Dystonia.
Mov Disord
; 38(2): 355-357, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416405
15.
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment.
Cephalalgia
; 38(6): 1167-1176, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856914
16.
Autonomic function testing in spinocerebellar ataxia type 2.
Clin Auton Res
; 28(3): 341-346, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435867
17.
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
J Neurol
; 271(5): 2859-2865, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38441608
18.
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
medRxiv
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405699
19.
Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia.
Neurol Genet
; 9(1): e200052, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636734
20.
New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?
Neurol Genet
; 9(2): e200063, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090940