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.
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
6.
Change of olfactory function as a marker of inflammatory activity and disability progression in MS.
Mult Scler
; 25(2): 267-274, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29185867
7.
Peripapillary retinal nerve fibre layer as measured by optical coherence tomography is a prognostic biomarker not only for physical but also for cognitive disability progression in multiple sclerosis.
Mult Scler
; 25(2): 196-203, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095097
8.
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
9.
Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia.
Front Neurosci
; 17: 1289027, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38027498
10.
Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue.
Orphanet J Rare Dis
; 17(1): 55, 2022 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172867
11.
Instrumented gait analysis defines the walking signature of CACNA1A disorders.
J Neurol
; 269(6): 2941-2947, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34755206
12.
The electrophysiological footprint of CACNA1A disorders.
J Neurol
; 268(7): 2493-2505, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33544220
13.
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
Front Neurol
; 12: 799953, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35111129
14.
The rare and the common: An Austrian DRPLA family harboring the European haplotype.
Parkinsonism Relat Disord
; 87: 119-121, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022586
15.
Cardiovascular autonomic testing in the work-up of cerebellar ataxia: insight from an observational single center study.
J Neurol
; 267(4): 1097-1102, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893293
16.
Onset features and time to diagnosis in Friedreich's Ataxia.
Orphanet J Rare Dis
; 15(1): 198, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32746884
17.
Second language learning induces grey matter volume increase in people with multiple sclerosis.
PLoS One
; 14(12): e0226525, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31869402
18.
Transient impairment of olfactory threshold in acute multiple sclerosis relapse.
Mult Scler Relat Disord
; 23: 74-77, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29783156