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Sascha Vermeer

Showing results (11-20 of 45) with videos related to

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Neurology|October 4, 2012
Reviewing the genetic causes of spastic-ataxiasSusanne T de Bot, Michel A A P Willemsen, Sascha Vermeer, et al.
American Journal of Human Genetics|January 9, 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patientsJulie Vogt, Benjamin J Harrison, Hayley Spearman, et al.
Psychopathology|March 24, 2012
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibsWillem M A Verhoeven, Jos I M Egger, Amir I M Ahmed, et al.
European Journal of Neurology|September 1, 2021
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvementSien H Van Daele, Matthieu Moisse, Valérie Race, et al.
European Journal of Medical Genetics|August 12, 2008
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalitiesBrigitte H W Faas, Willy Nillesen, Sascha Vermeer, et al.
Human Molecular Genetics|June 12, 2016
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix SaguenayTeisha Y Bradshaw, Lisa E L Romano, Emma J Duncan, et al.
European Journal of Human Genetics : EJHG|February 10, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersBart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersBart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, et al.
Human Mutation|April 2, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeWilliam A Paznekas, Barbara Karczeski, Sascha Vermeer, et al.
Journal of Neurology|March 5, 2013
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) geneSusanne T de Bot, Sascha Vermeer, Wendy Buijsman, et al.
Pageof 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
Neurology|October 4, 2012
Reviewing the genetic causes of spastic-ataxiasSusanne T de Bot, Michel A A P Willemsen, Sascha Vermeer, et al.
American Journal of Human Genetics|January 9, 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patientsJulie Vogt, Benjamin J Harrison, Hayley Spearman, et al.
Psychopathology|March 24, 2012
Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibsWillem M A Verhoeven, Jos I M Egger, Amir I M Ahmed, et al.
European Journal of Neurology|September 1, 2021
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvementSien H Van Daele, Matthieu Moisse, Valérie Race, et al.
European Journal of Medical Genetics|August 12, 2008
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalitiesBrigitte H W Faas, Willy Nillesen, Sascha Vermeer, et al.
Human Molecular Genetics|June 12, 2016
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix SaguenayTeisha Y Bradshaw, Lisa E L Romano, Emma J Duncan, et al.
European Journal of Human Genetics : EJHG|February 10, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersBart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, et al.
European Journal of Human Genetics : EJHG|May 12, 2016
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disordersBart P van de Warrenburg, Meyke I Schouten, Susanne T de Bot, et al.
Human Mutation|April 2, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeWilliam A Paznekas, Barbara Karczeski, Sascha Vermeer, et al.
Journal of Neurology|March 5, 2013
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) geneSusanne T de Bot, Sascha Vermeer, Wendy Buijsman, et al.
Pageof 5