Detalhe da pesquisa
1.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853291
2.
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism.
Mov Disord
; 38(4): 646-653, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727539
3.
Instrumented Gait Classification Using Meaningful Features in Patients with Impaired Coordination.
Sensors (Basel)
; 23(20)2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37896504
4.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS Genet
; 15(4): e1008088, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31034465
5.
2D Gait Skeleton Data Normalization for Quantitative Assessment of Movement Disorders from Freehand Single Camera Video Recordings.
Sensors (Basel)
; 22(11)2022 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684866
6.
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Hum Mutat
; 41(5): 1042-1050, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097528
7.
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.
Dev Med Child Neurol
; 62(1): 75-82, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31529709
8.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842795
9.
Guidelines in CHARGE syndrome and the missing link: Cranial imaging.
Am J Med Genet C Semin Med Genet
; 175(4): 450-464, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168326
10.
Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study.
Dev Med Child Neurol
; 59(10): 1077-1082, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815574
11.
Reliability and discriminant validity of ataxia rating scales in early onset ataxia.
Dev Med Child Neurol
; 59(4): 427-432, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27767206
12.
Reliability of phenotypic early-onset ataxia assessment: a pilot study.
Dev Med Child Neurol
; 58(1): 70-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25995073
13.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
J Neurol Neurosurg Psychiatry
; 86(7): 774-81, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395479
14.
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Mov Disord
; 29(1): 139-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458321
15.
Ataxia rating scales are age-dependent in healthy children.
Dev Med Child Neurol
; 56(6): 556-63, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24392880
16.
Assessment of speech in early-onset ataxia: a pilot study.
Dev Med Child Neurol
; 56(12): 1202-1206, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24942085
17.
Moving across disorders: A cross-sectional study of cognition in early onset ataxia and dystonia.
Eur J Paediatr Neurol
; 49: 100-105, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38479210
18.
Neurologic Outcome Comparison between Fetal Open-, Endoscopic- and Neonatal-Intervention Techniques in Spina Bifida Aperta.
Diagnostics (Basel)
; 13(2)2023 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36673061
19.
Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.
Brain Sci
; 13(12)2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137073
20.
Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement.
Eur J Paediatr Neurol
; 45: 47-54, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301083