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.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969638
3.
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
J Med Genet
; 58(7): 475-483, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737135
4.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
5.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34163037
6.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865968
7.
Age-related sensory neuropathy in patients with spinal muscular atrophy type 1.
Muscle Nerve
; 64(5): 599-603, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368972
8.
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Clin Genet
; 97(3): 521-526, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705535
9.
Prestatus and status dystonicus in children and adolescents.
Dev Med Child Neurol
; 62(6): 742-749, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31837011
10.
Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases.
Int J Mol Sci
; 21(19)2020 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027950
11.
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Int J Mol Sci
; 21(10)2020 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443735
12.
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Int J Mol Sci
; 21(4)2020 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32085672
13.
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Clin Genet
; 96(2): 169-175, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066025
14.
Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.
Ann Neurol
; 93(5): 1041-1043, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36892079
15.
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Neurogenetics
; 19(2): 111-121, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691679
16.
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Cerebellum
; 17(4): 489-493, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29397530
17.
Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.
Cerebellum
; 17(4): 499-503, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29476442
18.
Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?
Epilepsy Behav
; 86: 157-162, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30031676
19.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Childs Nerv Syst
; 33(6): 933-940, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365909
20.
Sudden benzodiazepine-induced resolution of post-operative pediatric cerebellar mutism syndrome: a clinical-SPECT study.
Acta Neurochir (Wien)
; 159(3): 475-479, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28050719