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Cyril Goizet

Showing results (91-100 of 173) with videos related to

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Journal of Inherited Metabolic Disease|September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profilesAlice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
Plos One|January 24, 2014
Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohortGaëlle Désaméricq, Guillaume Dolbeau, Christophe Verny, et al.
European Journal of Human Genetics : EJHG|April 19, 2019
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2Alessia Peretti, Maud Perie, Didier Vincent, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Orphanet Journal of Rare Diseases|October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effectYann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.
Pageof 18

Showing results (91-100 of 173) with videos related to

Sort By:
Pageof 18
Journal of Inherited Metabolic Disease|September 20, 2017
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profilesAlice Kuster, Jean-Baptiste Arnoux, Magalie Barth, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
Plos One|January 24, 2014
Effectiveness of anti-psychotics and related drugs in the Huntington French-speaking group cohortGaëlle Désaméricq, Guillaume Dolbeau, Christophe Verny, et al.
European Journal of Human Genetics : EJHG|April 19, 2019
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2Alessia Peretti, Maud Perie, Didier Vincent, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2017
A randomized, double-blind, placebo-controlled trial evaluating cysteamine in Huntington's diseaseChristophe Verny, Anne-Catherine Bachoud-Lévi, Alexandra Durr, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.
Orphanet Journal of Rare Diseases|October 5, 2018
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effectYann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.
Pageof 18