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Rachel Straussberg

Showing results (71-80 of 85) with videos related to

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Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
American Journal of Human Genetics|February 4, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23John Y W Lee, Chao-Kai Hsu, Magdalene Michael, et al.
Brain : a Journal of Neurology|December 24, 2016
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathyTzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, et al.
American Journal of Human Genetics|November 4, 2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk, Robyn H Wallace, Aimee Buhr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Annals of Neurology|April 6, 2017
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel propertiesKaren L Oliver, Silvana Franceschetti, Carol J Milligan, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
JAMA Neurology|January 23, 2018
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Epilepsia|May 14, 2013
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyHirofumi Kodera, Mitsuhiro Kato, Alex S Nord, et al.
American Journal of Human Genetics|February 4, 2017
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23John Y W Lee, Chao-Kai Hsu, Magdalene Michael, et al.
Brain : a Journal of Neurology|December 24, 2016
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathyTzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, et al.
American Journal of Human Genetics|November 4, 2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk, Robyn H Wallace, Aimee Buhr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Annals of Neurology|April 6, 2017
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K<sup>+</sup> channel propertiesKaren L Oliver, Silvana Franceschetti, Carol J Milligan, et al.
American Journal of Human Genetics|July 31, 2020
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA ProcessingAnna Fliedner, Philipp Kirchner, Antje Wiesener, et al.
JAMA Neurology|January 23, 2018
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, et al.
The Lancet. Neurology|February 22, 2025
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriesGaofeng Zhu, Blaise Didry-Barca, Luis Seabra, et al.
Pageof 9