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Franco Taroni

Showing results (191-200 of 204) with videos related to

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European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Stroke|June 2, 2016
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS RegistryAnna Bersano, Hugh Stephen Markus, Silvana Quaglini, et al.
Forensic Science International|August 13, 2025
A response to EA-4/23 INF:2025 "The Assessment and Accreditation of Opinions and Interpretations using ISO/IEC 17025:2017"Geoffrey Stewart Morrison, Alex Biedermann, Matt Tart, et al.
Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 21

Showing results (191-200 of 204) with videos related to

Sort By:
Pageof 21
European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Stroke|June 2, 2016
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS RegistryAnna Bersano, Hugh Stephen Markus, Silvana Quaglini, et al.
Forensic Science International|August 13, 2025
A response to EA-4/23 INF:2025 "The Assessment and Accreditation of Opinions and Interpretations using ISO/IEC 17025:2017"Geoffrey Stewart Morrison, Alex Biedermann, Matt Tart, et al.
Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.
American Journal of Human Genetics|June 10, 2023
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxiasPaulina Cunha, Emilien Petit, Marie Coutelier, et al.
Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 21