Detalhe da pesquisa
1.
Long-Term Globus Pallidus Internus Deep Brain Stimulation in Pediatric Non-Degenerative Dystonia: A Cohort Study and a Meta-Analysis.
Mov Disord
; 2024 Apr 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38646731
2.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain
; 146(7): 2730-2738, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36860166
3.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36788019
4.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
J Med Genet
; 59(4): 399-409, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34085948
5.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32808683
6.
Movement disorders in patients with Rett syndrome: A systematic review of evidence and associated clinical considerations.
Psychiatry Clin Neurosci
; 75(12): 369-393, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34472659
7.
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells.
Int J Mol Sci
; 21(16)2020 Aug 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32796702
8.
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
Inglês
| MEDLINE | ID: mdl-27058447
9.
Cortical Myoclonus and Complex Paroxysmal Dyskinesias in a Patient with NAA15 Variant.
Mov Disord
; 2024 Apr 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38643413
10.
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
Mov Disord
; 34(10): 1516-1527, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31216378
11.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Acta Neurol Scand
; 140(3): 184-193, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31102535
12.
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.
Neurol Sci
; 40(3): 561-570, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30604336
13.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
; 96(6): 938-47, 2015 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25983243
14.
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
Am J Med Genet B Neuropsychiatr Genet
; 177(6): 557-562, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30105822
15.
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Hum Mol Genet
; 24(18): 5326-9, 2015 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26157024
16.
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
Am J Hum Genet
; 94(1): 11-22, 2014 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-24360804
17.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord
; 32(11): 1620-1630, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28845923
18.
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
Dev Med Child Neurol
; 59(8): 815-821, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28542837
19.
THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases.
Mov Disord
; 36(6): 1463-1464, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33665847
20.
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
Mov Disord
; 36(6): 1461-1462, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33638881