Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Deborah A Sival"'
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:
Andreas Traschütz, Selina Reich, Astrid D. Adarmes, Mathieu Anheim, Mahmoud Reza Ashrafi, Jonathan Baets, A. Nazli Basak, Enrico Bertini, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Hasmet A. Hanagasi, Anna Heinzmann, Rita Horvath, Peter de Jonghe, Christoph Kamm, Peter Klivenyi, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Richard H. Roxburgh, Filippo M. Santorelli, Tommaso Schirinzi, Deborah A. Sival, Dagmar Timmann, Stefan Vielhaber, Michael Wallner, Bart P. van de Warrenburg, Ginevra Zanni, Stephan Zuchner, Thomas Klockgether, Rebecca Schüle, Ludger Schöls, PREPARE Consortium, Matthis Synofzik
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for AR
Externí odkaz:
https://doaj.org/article/1b62630c9fef41afa8a9c50dfa927cff
Publikováno v:
Sensors, Vol 22, Iss 11, p 4245 (2022)
Overlapping phenotypic features between Early Onset Ataxia (EOA) and Developmental Coordination Disorder (DCD) can complicate the clinical distinction of these disorders. Clinical rating scales are a common way to quantify movement disorders but in c
Externí odkaz:
https://doaj.org/article/9335bd3338d44cef82de9ad0c79114b2
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:
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.
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:
Deborah A. Sival, Martinica Garofalo, Rick Brandsma, Tom A. Bokkers, Marloes van den Berg, Tom J. de Koning, Marina A. J. Tijssen, Dineke S. Verbeek
Publikováno v:
Diagnostics, Vol 10, Iss 12, p 997 (2020)
In degenerative adult onset ataxia (AOA), dystonic comorbidity is attributed to one disease continuum. However, in early adult onset ataxia (EOA), the prevalence and pathogenesis of dystonic comorbidity (EOAD+), are still unclear. In 80 EOA-patients,
Externí odkaz:
https://doaj.org/article/9787db4af53e4bb49a4833aa56946569
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