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.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
3.
Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
J Hum Genet
; 67(2): 95-101, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400773
4.
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord
; 37(7): 1547-1554, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722775
5.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
6.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Hum Mutat
; 41(4): 837-849, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898846
7.
Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival.
Neurogenetics
; 21(4): 243-249, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32424628
8.
Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Am J Med Genet A
; 182(10): 2207-2213, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001581
9.
Brain white matter abnormalities associated with copy number variants.
Am J Med Genet A
; 182(1): 93-103, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31622028
10.
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Am J Med Genet A
; 179(8): 1575-1579, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31168944
11.
Metabolic stroke in a patient with bi-allelic OPA1 mutations.
Metab Brain Dis
; 34(4): 1043-1048, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30972688
12.
Rituximab, IVIg, and Tetracosactide (ACTH1-24) Combination Immunotherapy ("RITE-CI") for Pediatric Opsoclonus-Myoclonus Syndrome: Immunomarkers and Clinical Observations.
Neuropediatrics
; 49(2): 123-134, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29258131
13.
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.
Neuropediatrics
; 49(4): 246-255, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801190
14.
The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Epilepsia
; 57(11): 1858-1869, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27665735
15.
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Epilepsia
; 56(6): 841-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25864721
16.
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.
Neurogenetics
; 15(2): 107-13, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24526230
17.
Paroxysmal torticollis of infancy: a benign phenomenon?
Dev Med Child Neurol
; 60(12): 1196-1197, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29972237
18.
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .
Neurogenetics
; 13(1): 73-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290197
19.
Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter.
Epileptic Disord
; 23(5): 695-705, 2021 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519644
20.
Congenital Mirror Movements Associated With Brain Malformations.
J Child Neurol
; 36(7): 545-555, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413009