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A Maat

Showing results (41-50 of 52) with videos related to

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Clinical Genetics|February 22, 2011
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindredsM Wentink, M Nellist, M Hoogeveen-Westerveld, et al.
Neurology|March 13, 2002
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysisB P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, et al.
Neurology|August 16, 2008
Distinct genetic forms of frontotemporal dementiaH Seelaar, W Kamphorst, S M Rosso, et al.
Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
Acta Neuropathologica|June 11, 2021
The subcellular arrangement of alpha-synuclein proteoforms in the Parkinson's disease brain as revealed by multicolor STED microscopyTim E Moors, Christina A Maat, Daniel Niedieker, et al.
Nature|June 21, 2021
Dysregulation of brain and choroid plexus cell types in severe COVID-19Andrew C Yang, Fabian Kern, Patricia M Losada, et al.
Clinical Genetics|January 29, 2013
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008M C van Rij, P A M de Koning Gans, C M Aalfs, et al.
Nature|October 9, 2021
Publisher Correction: Dysregulation of brain and choroid plexus cell types in severe COVID-19Andrew C Yang, Fabian Kern, Patricia M Losada, et al.
Nature|February 15, 2022
A human brain vascular atlas reveals diverse mediators of Alzheimer's riskAndrew C Yang, Ryan T Vest, Fabian Kern, et al.
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
Clinical Genetics|February 22, 2011
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindredsM Wentink, M Nellist, M Hoogeveen-Westerveld, et al.
Neurology|March 13, 2002
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysisB P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, et al.
Neurology|August 16, 2008
Distinct genetic forms of frontotemporal dementiaH Seelaar, W Kamphorst, S M Rosso, et al.
Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
Acta Neuropathologica|June 11, 2021
The subcellular arrangement of alpha-synuclein proteoforms in the Parkinson's disease brain as revealed by multicolor STED microscopyTim E Moors, Christina A Maat, Daniel Niedieker, et al.
Nature|June 21, 2021
Dysregulation of brain and choroid plexus cell types in severe COVID-19Andrew C Yang, Fabian Kern, Patricia M Losada, et al.
Clinical Genetics|January 29, 2013
Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008M C van Rij, P A M de Koning Gans, C M Aalfs, et al.
Nature|October 9, 2021
Publisher Correction: Dysregulation of brain and choroid plexus cell types in severe COVID-19Andrew C Yang, Fabian Kern, Patricia M Losada, et al.
Nature|February 15, 2022
A human brain vascular atlas reveals diverse mediators of Alzheimer's riskAndrew C Yang, Ryan T Vest, Fabian Kern, et al.
BMC Medical Genetics|May 1, 2015
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutationsMark Nellist, Rutger W W Brouwer, Christel E M Kockx, et al.
Pageof 6