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Cyril Goizet

Showing results (71-80 of 173) with videos related to

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Brain : a Journal of Neurology|January 23, 2004
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patientsIsabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, et al.
Neuromuscular Disorders : NMD|December 14, 2007
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne, Christiane Zweier, Klaus Raab, et al.
Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
Annals of Neurology|May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier, Virginie Guillet, Dominique Loiseau, et al.
Neurology. Genetics|February 24, 2018
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Haematologica|October 9, 2025
Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvementCharlotte Brillon, Marjorie Poggi, Mathieu Fiore, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibshipsNouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, et al.
Human Molecular Genetics|April 2, 2009
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one caseAurore Carré, Gabor Szinnai, Mireille Castanet, et al.
Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.
Pageof 18

Showing results (71-80 of 173) with videos related to

Sort By:
Pageof 18
Brain : a Journal of Neurology|January 23, 2004
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patientsIsabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, et al.
Neuromuscular Disorders : NMD|December 14, 2007
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosisKathrin Huehne, Christiane Zweier, Klaus Raab, et al.
Journal of Medical Genetics|March 27, 2019
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationSusanna Tulli, Andrea Del Bondio, Valentina Baderna, et al.
Annals of Neurology|May 23, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier, Virginie Guillet, Dominique Loiseau, et al.
Neurology. Genetics|February 24, 2018
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Haematologica|October 9, 2025
Expanded clinical, genetic, and biological spectrum of filaminopathies with hematological involvementCharlotte Brillon, Marjorie Poggi, Mathieu Fiore, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibshipsNouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, et al.
Human Molecular Genetics|April 2, 2009
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one caseAurore Carré, Gabor Szinnai, Mireille Castanet, et al.
Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.
Pageof 18