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Cyril Goizet

Showing results (31-40 of 173) with videos related to

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Movement Disorders Clinical Practice|October 11, 2025
Huntington's Disease and Huntington's Disease-like 2 (HDL2) in MartiniqueIgnacio Antolin-Sanfeliz, Anna-Gaelle Giguet-Valard, Sophie Duclos, et al.
Clinical Genetics|November 13, 2019
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypesHugo Bakis, Aurélien Trimouille, Agathe Vermorel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature reviewIbrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 1, 2018
Non-specific gastrointestinal features: Could it be Fabry disease?Max J Hilz, Eloisa Arbustini, Lorenzo Dagna, et al.
Neurogenetics|June 29, 2007
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel Depienne, Estelle Fedirko, Jean-Marc Faucheux, et al.
European Journal of Medical Genetics|May 26, 2019
Coexistence of schwannomatosis and glioblastoma in two familiesCaroline Deiller, Julien Van-Gils, Cécile Zordan, et al.
Human Mutation|October 15, 2008
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet, Amir Boukhris, Emeline Mundwiller, et al.
European Journal of Medical Genetics|April 29, 2011
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type IMarjory Rué, Hermann-Josef Lüdecke, Igor Sibon, et al.
Presse Medicale (Paris, France : 1983)|February 6, 2007
[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up]Olivier Lidove, Soumeya Bekri, Cyril Goizet, et al.
Annals of Neurology|January 30, 2020
Natural History of Adult Patients with GM2 GangliosidosisMarion Masingue, Louis Dufour, Timothée Lenglet, et al.
Pageof 18

Showing results (31-40 of 173) with videos related to

Sort By:
Pageof 18
Movement Disorders Clinical Practice|October 11, 2025
Huntington's Disease and Huntington's Disease-like 2 (HDL2) in MartiniqueIgnacio Antolin-Sanfeliz, Anna-Gaelle Giguet-Valard, Sophie Duclos, et al.
Clinical Genetics|November 13, 2019
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypesHugo Bakis, Aurélien Trimouille, Agathe Vermorel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature reviewIbrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|April 1, 2018
Non-specific gastrointestinal features: Could it be Fabry disease?Max J Hilz, Eloisa Arbustini, Lorenzo Dagna, et al.
Neurogenetics|June 29, 2007
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel Depienne, Estelle Fedirko, Jean-Marc Faucheux, et al.
European Journal of Medical Genetics|May 26, 2019
Coexistence of schwannomatosis and glioblastoma in two familiesCaroline Deiller, Julien Van-Gils, Cécile Zordan, et al.
Human Mutation|October 15, 2008
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet, Amir Boukhris, Emeline Mundwiller, et al.
European Journal of Medical Genetics|April 29, 2011
Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type IMarjory Rué, Hermann-Josef Lüdecke, Igor Sibon, et al.
Presse Medicale (Paris, France : 1983)|February 6, 2007
[Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up]Olivier Lidove, Soumeya Bekri, Cyril Goizet, et al.
Annals of Neurology|January 30, 2020
Natural History of Adult Patients with GM2 GangliosidosisMarion Masingue, Louis Dufour, Timothée Lenglet, et al.
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