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Manuela Pendziwiat

Showing results (11-20 of 53) with videos related to

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Journal of Child Neurology|November 22, 2013
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plusHadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, et al.
IBRO Neuroscience Reports|November 24, 2025
Evaluation of an antibody panel for alpha-synuclein detection in FFPE rectal biopsies in Parkinson's diseaseKatja Schröder, Carmen Kintrup, Kristína Kulcsárová, et al.
American Journal of Human Genetics|January 21, 2010
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B geneSilke Appenzeller, Anja Schirmacher, Hartmut Halfter, et al.
Journal of Neurology|October 14, 2015
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasiaKarl Martin Klein, Manuela Pendziwiat, Rony Cohen, et al.
Frontiers in Genetics|May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic SeizuresAllan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 30, 2015
The impact of rare variants in FUS in essential tremorFranziska Hopfner, Giovanni Stevanin, Stefanie H Müller, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.
Pageof 6

Showing results (11-20 of 53) with videos related to

Sort By:
Pageof 6
Journal of Child Neurology|November 22, 2013
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plusHadassa Goldberg-Stern, Sharon Aharoni, Zaid Afawi, et al.
IBRO Neuroscience Reports|November 24, 2025
Evaluation of an antibody panel for alpha-synuclein detection in FFPE rectal biopsies in Parkinson's diseaseKatja Schröder, Carmen Kintrup, Kristína Kulcsárová, et al.
American Journal of Human Genetics|January 21, 2010
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B geneSilke Appenzeller, Anja Schirmacher, Hartmut Halfter, et al.
Journal of Neurology|October 14, 2015
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasiaKarl Martin Klein, Manuela Pendziwiat, Rony Cohen, et al.
Frontiers in Genetics|May 28, 2021
Deep-Phenotyping the Less Severe Spectrum of <i>PIGT</i> Deficiency and Linking the Gene to Myoclonic Atonic SeizuresAllan Bayat, Manuela Pendziwiat, Ewa Obersztyn, et al.
Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on Na<sub>V</sub>1.2 and Na<sub>V</sub>1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 30, 2015
The impact of rare variants in FUS in essential tremorFranziska Hopfner, Giovanni Stevanin, Stefanie H Müller, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.
Pageof 6