Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Deborah A Sival"'
Autor:
Renate J Verbeek, Petra B Mulder, Krystyna M Sollie, Johannes H van der Hoeven, Wilfred F A den Dunnen, Natalia M Maurits, Deborah A Sival
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0235836 (2020)
Muscle ultrasound density (MUD) is a non-invasive parameter to indicate neuromuscular integrity in both children and adults. In healthy fetuses and infants, physiologic MUD values during development are still lacking. We therefore aimed to determine
Externí odkaz:
https://doaj.org/article/dce66a5ebf8441259ef0a299b57b997f
Autor:
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Publikováno v:
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the cellular level, PIK3C2A is critical for t
Externí odkaz:
https://doaj.org/article/53593e35407b4010bb8e4e02f0479df0
Autor:
Esteban M Rodríguez, María M Guerra, Karin Vío, César González, Alexander Ortloff, Luis F Bátiz, Sara Rodríguez, María C Jara, Rosa I Muñoz, Eduardo Ortega, Jaime Jaque, Francisco Guerra, Deborah A Sival, Wilfred F. A. den Dunnen, Antonio J Jiménez, María D Domínguez-Pinos, José M Pérez-Fígares, James P McAllister, Conrad Johanson
Publikováno v:
Biological Research, Vol 45, Iss 3, Pp 231-241 (2012)
Most cells of the developing mammalian brain derive from the ventricular (VZ) and the subventricular (SVZ) zones. The VZ is formed by the multipotent radial glia/neural stem cells (NSCs) while the SVZ harbors the rapidly proliferative neural precurso
Externí odkaz:
https://doaj.org/article/8d0adf41333a41d9958c176c1bcab3bd
Publikováno v:
Brain Sciences, Vol 13, Iss 12, p 1625 (2023)
Developmental Coordination Disorder (DCD) is a neurodevelopmental condition characterized by non-progressive central motor impairments. Mild movement disorder features have been observed in DCD. Until now, the etiology of DCD has been unclear. Recent
Externí odkaz:
https://doaj.org/article/9c9204058967468489416f9b66b59e54
Autor:
Zeus T. Dominguez-Vega, Mariano Bernaldo de Quiros, Jan Willem J. Elting, Deborah A. Sival, Natasha M. Maurits
Publikováno v:
Sensors, Vol 23, Iss 20, p 8410 (2023)
Early onset ataxia (EOA) and developmental coordination disorder (DCD) both affect cerebellar functioning in children, making the clinical distinction challenging. We here aim to derive meaningful features from quantitative SARA-gait data (i.e., the
Externí odkaz:
https://doaj.org/article/02f79fe95ce04e10b9d7ad026630d8b7
Publikováno v:
Diagnostics, Vol 13, Iss 2, p 251 (2023)
Introduction: In spina bifida aperta (SBA), fetal closure of the myelomeningocele (MMC) can have a neuroprotective effect and improve outcomes. In Europe, surgical MMC closure is offered by fetal-open (OSBAR), fetal-endoscopic (FSBAR), and neonatal (
Externí odkaz:
https://doaj.org/article/811005b76b504433ad8f7ccc687888a1
Autor:
Suus A.M. van Noort, Sterre van der Veen, Tom J. de Koning, Marina A.J. de Koning-Tijssen, Dineke S. Verbeek, Deborah A. Sival
Publikováno v:
European Journal of Paediatric Neurology.
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism
Autor:
Lisette H. Koens, Marrit R. Klamer, Deborah A. Sival, Bettina Balint, Kailash P. Bhatia, Maria Fiorella Contarino, Martje E. van Egmond, Roberto Erro, Jennifer Friedman, Victor S.C. Fung, Christos Ganos, Manju A. Kurian, Anthony E. Lang, Eavan M. McGovern, Emmanuel Roze, Tom J. de Koning, Marina A.J. Tijssen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd85fe9605cbf552b84f733416df2465
https://hdl.handle.net/11386/4828792
https://hdl.handle.net/11386/4828792
Autor:
Deborah A. Sival, Suus A.M. van Noort, Marina A.J. Tijssen, Tom J. de Koning, Dineke S. Verbeek
Publikováno v:
European Journal of Paediatric Neurology, 36, 123-129. ELSEVIER SCI LTD
BACKGROUND: The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dysto
Publikováno v:
European Journal of Paediatric Neurology, 35, 56-60. ELSEVIER SCI LTD
BACKGROUND: In clinical practice, eye movements can provide an early diagnostic marker for early onset ataxia (EOA). However, quantitative oculomotor assessment is not included in the most frequently used and age-validated ataxia rating scale in chil