Articoli con mandati relativi all'accesso pubblico - Deborah SivalUlteriori informazioni
Disponibili pubblicamente: 16
De novo coding variants are strongly associated with Tourette disorder
AJ Willsey, TV Fernandez, D Yu, RA King, A Dietrich, J Xing, SJ Sanders, ...
Neuron 94 (3), 486-499. e9, 2017
Mandati: US National Institutes of Health, German Research Foundation, National …
A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalus
EM Rodríguez, MM Guerra, K Vío, C González, A Ortloff, LF Bátiz, ...
Biological research 45 (3), 231-241, 2012
Mandati: Government of Spain
Ventricular zone disruption in human neonates with intraventricular hemorrhage
JP McAllister, MM Guerra, LC Ruiz, AJ Jimenez, D Dominguez-Pinos, ...
Journal of Neuropatholgy & Experimental Neurology 76 (5), 358-375, 2017
Mandati: US National Institutes of Health, Government of Spain
Cell junction pathology of neural stem cells is associated with ventricular zone disruption, hydrocephalus, and abnormal neurogenesis
MM Guerra, R Henzi, A Ortloff, N Lichtin, K Vio, AJ Jimenez, ...
Journal of Neuropathology & Experimental Neurology 74 (7), 653-671, 2015
Mandati: Government of Spain
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
D Tiosano, HN Baris, A Chen, MM Hitzert, M Schueler, F Gulluni, ...
PLoS genetics 15 (4), e1008088, 2019
Mandati: US National Institutes of Health, German Research Foundation
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1
N Miyake, NI Wolf, FK Cayami, J Crawford, A Bley, D Bulas, A Conant, ...
Neurogenetics 18, 185-194, 2017
Mandati: National Health and Medical Research Council, Australia
Pre-and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder
M Abdulkadir, JA Tischfield, RA King, TV Fernandez, LW Brown, ...
Journal of psychiatric research 82, 126-135, 2016
Mandati: US National Institutes of Health, German Research Foundation, Government of …
The Burke‐Fahn‐Marsden dystonia rating scale is age‐dependent in healthy children
MJ Kuiper, L Vrijenhoek, R Brandsma, RJ Lunsing, H Burger, H Eggink, ...
Movement disorders clinical practice 3 (6), 580-586, 2016
Mandati: Netherlands Organisation for Scientific Research
A clinical diagnostic algorithm for early onset cerebellar ataxia
R Brandsma, CC Verschuuren-Bemelmans, D Amrom, N Barisic, P Baxter, ...
European journal of paediatric neurology 23 (5), 692-706, 2019
Mandati: Government of Spain, Governo Italiano
The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias
A Traschütz, S Reich, AD Adarmes, M Anheim, MR Ashrafi, J Baets, ...
Frontiers in neurology 12, 677551, 2021
Mandati: US National Institutes of Health, Research Foundation (Flanders), German …
Motor and non-motor determinants of health-related quality of life in young dystonia patients
H Eggink, MA Coenen, R de Jong, RF Toonen, MH Eissens, WS Veenstra, ...
Parkinsonism & related disorders 58, 50-55, 2019
Mandati: UK Medical Research Council
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
TM Yates, M Drucker, A Barnicoat, K Low, EH Gerkes, AE Fry, MJ Parker, ...
Human Mutation 41 (5), 1042-1050, 2020
Mandati: Research Foundation (Flanders), Wellcome Trust
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
IGM Wijnen, HE Veenstra-Knol, F Vansenne, EH Gerkes, T de Koning, ...
European Journal of Human Genetics 28 (6), 763-769, 2020
Mandati: Netherlands Organisation for Health Research and Development
Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease
GL O'Grady, A Ma, D Sival, MTY Wong, T Peduto, MP Menezes, H Young, ...
European Journal of Human Genetics 24 (8), 1216-1219, 2016
Mandati: US National Institutes of Health, National Health and Medical Research …
A screening tool to quickly identify movement disorders in patients with inborn errors of metabolism
LH Koens, MR Klamer, DA Sival, B Balint, KP Bhatia, MF Contarino, ...
Movement Disorders 38 (4), 646-653, 2023
Mandati: Canadian Institutes of Health Research, Volkswagen Foundation, National …
Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement
SAM van Noort, S van der Veen, TJ de Koning, MAJ de Koning-Tijssen, ...
European Journal of Paediatric Neurology 45, 47-54, 2023
Mandati: Netherlands Organisation for Health Research and Development
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