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Deborah A Sival

Showing results (51-60 of 66) with videos related to

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Orphanet Journal of Rare Diseases|March 8, 2017
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label studyMartje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 25, 2014
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutationMartje E van Egmond, Corien C Verschuuren-Bemelmans, Esther A Nibbeling, et al.
Epilepsia|October 5, 2010
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsyLevinus A Bok, Natasha M Maurits, Michèl A Willemsen, et al.
Parkinsonism & Related Disorders|February 28, 2020
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patientsSjoukje S Polet, David G Anderson, Lisette H Koens, et al.
Irish Journal of Medical Science|November 5, 2017
Prenatal surgery for spina bifida: a therapeutic dilemma. Proceedings of the SHINE conference, BelfastMano Shanmuganathan, Deborah A Sival, Kelly-Ann Eastwood, et al.
Pediatrics|August 3, 2004
Neonatal loss of motor function in human spina bifida apertaDeborah A Sival, Tiemen W van Weerden, Johan S H Vles, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 2, 2023
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of MetabolismLisette H Koens, Marrit R Klamer, Deborah A Sival, et al.
Human Mutation|February 26, 2020
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrumThabo M Yates, Morgan Drucker, Angela Barnicoat, et al.
Biological Research|January 4, 2013
A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalusEsteban M Rodríguez, María M Guerra, Karin Vío, et al.
Journal of Neuropathology and Experimental Neurology|June 17, 2015
Cell Junction Pathology of Neural Stem Cells Is Associated With Ventricular Zone Disruption, Hydrocephalus, and Abnormal NeurogenesisMaría Montserrat Guerra, Roberto Henzi, Alexander Ortloff, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Orphanet Journal of Rare Diseases|March 8, 2017
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label studyMartje E van Egmond, Amerins Weijenberg, Margreet E van Rijn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 25, 2014
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutationMartje E van Egmond, Corien C Verschuuren-Bemelmans, Esther A Nibbeling, et al.
Epilepsia|October 5, 2010
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsyLevinus A Bok, Natasha M Maurits, Michèl A Willemsen, et al.
Parkinsonism & Related Disorders|February 28, 2020
A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patientsSjoukje S Polet, David G Anderson, Lisette H Koens, et al.
Irish Journal of Medical Science|November 5, 2017
Prenatal surgery for spina bifida: a therapeutic dilemma. Proceedings of the SHINE conference, BelfastMano Shanmuganathan, Deborah A Sival, Kelly-Ann Eastwood, et al.
Pediatrics|August 3, 2004
Neonatal loss of motor function in human spina bifida apertaDeborah A Sival, Tiemen W van Weerden, Johan S H Vles, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 2, 2023
A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of MetabolismLisette H Koens, Marrit R Klamer, Deborah A Sival, et al.
Human Mutation|February 26, 2020
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrumThabo M Yates, Morgan Drucker, Angela Barnicoat, et al.
Biological Research|January 4, 2013
A cell junction pathology of neural stem cells leads to abnormal neurogenesis and hydrocephalusEsteban M Rodríguez, María M Guerra, Karin Vío, et al.
Journal of Neuropathology and Experimental Neurology|June 17, 2015
Cell Junction Pathology of Neural Stem Cells Is Associated With Ventricular Zone Disruption, Hydrocephalus, and Abnormal NeurogenesisMaría Montserrat Guerra, Roberto Henzi, Alexander Ortloff, et al.
Pageof 7