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Manuela Pendziwiat

Showing results (1-10 of 53) with videos related to

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Cytoskeleton (Hoboken, N.J.)|July 19, 2018
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family studyKatharina Neubauer, Doris Boeckelmann, Udo Koehler, et al.
Frontiers in Neurology|June 26, 2023
<i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsySimone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, et al.
Neurobiology of Aging|March 18, 2014
Differential aggregation properties of alpha-synuclein isoformsMay Bungeroth, Silke Appenzeller, Annika Regulin, et al.
Journal of Neurology|June 17, 2017
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizuresKarl Martin Klein, Manuela Pendziwiat, Anda Eilam, et al.
Neuropediatrics|May 12, 2020
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for EpilepsyAnnika Rademacher, Niklas Schwarz, Simone Seiffert, et al.
The Journal of Cell Biology|December 18, 2013
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubulesXiaobo Bai, Jonathan R Bowen, Tara K Knox, et al.
Neurogenetics|March 29, 2021
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasiaAli S Shalash, Thomas W Rösler, Mohamed Salama, et al.
Epilepsia|May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable fociChristina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Epilepsia|May 20, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plusMichael F Hammer, Yanling Pan, Medhane Cumbay, et al.
Epilepsia|January 28, 2016
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutationFelix Benninger, Zaid Afawi, Amos D Korczyn, et al.
Pageof 6

Showing results (1-10 of 53) with videos related to

Sort By:
Pageof 6
Cytoskeleton (Hoboken, N.J.)|July 19, 2018
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family studyKatharina Neubauer, Doris Boeckelmann, Udo Koehler, et al.
Frontiers in Neurology|June 26, 2023
<i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsySimone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, et al.
Neurobiology of Aging|March 18, 2014
Differential aggregation properties of alpha-synuclein isoformsMay Bungeroth, Silke Appenzeller, Annika Regulin, et al.
Journal of Neurology|June 17, 2017
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizuresKarl Martin Klein, Manuela Pendziwiat, Anda Eilam, et al.
Neuropediatrics|May 12, 2020
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for EpilepsyAnnika Rademacher, Niklas Schwarz, Simone Seiffert, et al.
The Journal of Cell Biology|December 18, 2013
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubulesXiaobo Bai, Jonathan R Bowen, Tara K Knox, et al.
Neurogenetics|March 29, 2021
Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasiaAli S Shalash, Thomas W Rösler, Mohamed Salama, et al.
Epilepsia|May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable fociChristina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Epilepsia|May 20, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plusMichael F Hammer, Yanling Pan, Medhane Cumbay, et al.
Epilepsia|January 28, 2016
Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutationFelix Benninger, Zaid Afawi, Amos D Korczyn, et al.
Pageof 6