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Franco Taroni

Showing results (121-130 of 204) with videos related to

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Journal of the Peripheral Nervous System : JPNS|March 8, 2019
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 geneStefano Tozza, Stefania Magri, Elena Maria Pennisi, et al.
Human Mutation|September 26, 2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentationStefania Magri, Valentina Fracasso, Massimo Plumari, et al.
Journal of the Neurological Sciences|September 15, 2009
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalitiesMarco Sparaco, Laura Maria Gaeta, Filippo Maria Santorelli, et al.
Brain : a Journal of Neurology|October 28, 2005
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2Claudia Cagnoli, Caterina Mariotti, Franco Taroni, et al.
Journal of Neurology|October 16, 2007
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patientsCaterina Mariotti, Dario Alpini, Roberto Fancellu, et al.
Neurology|August 17, 2014
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutationDaniela Di Bella, Davide Pareyson, Mario Savoiardo, et al.
Journal of Neurochemistry|January 15, 2009
Pleiotropic effects of spastin on neurite growth depending on expression levelsElena Riano, Monica Martignoni, Giuseppe Mancuso, et al.
European Journal of Neurology|March 14, 2022
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum wideningPaola Saveri, Stefania Magri, Emanuela Maderna, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Human Molecular Genetics|October 22, 2005
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cellsRobert A Schoenfeld, Eleonora Napoli, Alice Wong, et al.
Pageof 21

Showing results (121-130 of 204) with videos related to

Sort By:
Pageof 21
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 geneStefano Tozza, Stefania Magri, Elena Maria Pennisi, et al.
Human Mutation|September 26, 2018
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentationStefania Magri, Valentina Fracasso, Massimo Plumari, et al.
Journal of the Neurological Sciences|September 15, 2009
Friedreich's ataxia: oxidative stress and cytoskeletal abnormalitiesMarco Sparaco, Laura Maria Gaeta, Filippo Maria Santorelli, et al.
Brain : a Journal of Neurology|October 28, 2005
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2Claudia Cagnoli, Caterina Mariotti, Franco Taroni, et al.
Journal of Neurology|October 16, 2007
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patientsCaterina Mariotti, Dario Alpini, Roberto Fancellu, et al.
Neurology|August 17, 2014
Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutationDaniela Di Bella, Davide Pareyson, Mario Savoiardo, et al.
Journal of Neurochemistry|January 15, 2009
Pleiotropic effects of spastin on neurite growth depending on expression levelsElena Riano, Monica Martignoni, Giuseppe Mancuso, et al.
European Journal of Neurology|March 14, 2022
DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum wideningPaola Saveri, Stefania Magri, Emanuela Maderna, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Human Molecular Genetics|October 22, 2005
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cellsRobert A Schoenfeld, Eleonora Napoli, Alice Wong, et al.
Pageof 21