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Michel Koenig

Showing results (51-60 of 126) with videos related to

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Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 3, 2025
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohortLorenzo Menicucci, Moussa Mane, Agathe Roubertie, et al.
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Parkinsonism & Related Disorders|February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxiaSolveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Archives of Neurology|March 14, 2012
Exonic deletions of FXN and early-onset Friedreich ataxiaMathieu Anheim, Louise-Laure Mariani, Patrick Calvas, et al.
Mitochondrion|May 23, 2021
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Naig Gueguen, Julie Piarroux, Emmanuelle Sarzi, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)Claire Guissart, Nathalie Drouot, Ibrahim Oncel, et al.
Archives of Neurology|April 11, 2007
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-upPascale Ribaï, Françoise Pousset, Marie-Laure Tanguy, et al.
Brain : a Journal of Neurology|September 10, 2010
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxiaMirna Assoum, Mustafa A Salih, Nathalie Drouot, et al.
Pageof 13

Showing results (51-60 of 126) with videos related to

Sort By:
Pageof 13
Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.
Frontiers in Genetics|July 28, 2020
A 4.6 Mb Inversion Leading to <i>PCDH15</i>-<i>LINC00844</i> and <i>BICC1</i>-<i>PCDH15</i> Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1Christel Vaché, Jacques Puechberty, Valérie Faugère, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 3, 2025
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohortLorenzo Menicucci, Moussa Mane, Agathe Roubertie, et al.
Human Mutation|October 21, 2018
Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesChristel Vaché, Simona Torriano, Valérie Faugère, et al.
Parkinsonism & Related Disorders|February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxiaSolveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Archives of Neurology|March 14, 2012
Exonic deletions of FXN and early-onset Friedreich ataxiaMathieu Anheim, Louise-Laure Mariani, Patrick Calvas, et al.
Mitochondrion|May 23, 2021
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Naig Gueguen, Julie Piarroux, Emmanuelle Sarzi, et al.
European Journal of Human Genetics : EJHG|December 17, 2015
Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)Claire Guissart, Nathalie Drouot, Ibrahim Oncel, et al.
Archives of Neurology|April 11, 2007
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-upPascale Ribaï, Françoise Pousset, Marie-Laure Tanguy, et al.
Brain : a Journal of Neurology|September 10, 2010
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxiaMirna Assoum, Mustafa A Salih, Nathalie Drouot, et al.
Pageof 13