Detalhe da pesquisa
1.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain
; 146(7): 2730-2738, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860166
2.
Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation.
Neurol Sci
; 45(1): 309-313, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752324
3.
Duodenal alpha-Synuclein Pathology and Enteric Gliosis in Advanced Parkinson's Disease.
Mov Disord
; 38(5): 885-894, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847308
4.
Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes.
J Neural Transm (Vienna)
; 130(2): 97-109, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36701008
5.
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response.
J Peripher Nerv Syst
; 28(3): 522-527, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246762
6.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
7.
Diagnostic and therapeutic recommendations in adult dystonia: a joint document by the Italian Society of Neurology, the Italian Academy for the Study of Parkinson's Disease and Movement Disorders, and the Italian Network on Botulinum Toxin.
Neurol Sci
; 43(12): 6929-6945, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190683
8.
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.
Neurogenetics
; 22(1): 65-70, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471268
9.
Impact of social and mobility restrictions in Parkinson's disease during COVID-19 lockdown.
BMC Neurol
; 21(1): 332, 2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34461838
10.
Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration.
Int J Mol Sci
; 21(10)2020 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32456086
11.
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.
Neurogenetics
; 20(3): 161-164, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31190316
12.
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Am J Hum Genet
; 98(4): 763-71, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058447
13.
Recessive mutations in VPS13D cause childhood onset movement disorders.
Ann Neurol
; 83(6): 1089-1095, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518281
14.
ANO3 as a Cause of Early-Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
Mov Disord
; 39(1): 220-221, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38073131
15.
Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
Mov Disord
; 39(3): 632-633, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38525607
16.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Mov Disord
; 34(10): 1516-1527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31216378
17.
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation.
J Neural Transm (Vienna)
; 126(6): 739-757, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31076915
18.
Inborn errors of coenzyme A metabolism and neurodegeneration.
J Inherit Metab Dis
; 42(1): 49-56, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740736
19.
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.
Hum Mutat
; 39(7): 965-969, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726066
20.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
; 96(6): 938-47, 2015 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25983243