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Alessandra Tessa

Showing results (101-110 of 116) with videos related to

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Neurobiology of Disease|January 25, 2020
Distal motor neuropathy associated with novel EMILIN1 mutationMichele Iacomino, Roberto Doliana, Maria Marchese, et al.
Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.
Ebiomedicine|January 22, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaHang Lyu, Christian M Boßelmann, Katrine M Johannesen, et al.
Human Mutation|February 27, 2009
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional studyAlessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, et al.
Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.
Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Pageof 12

Showing results (101-110 of 116) with videos related to

Sort By:
Pageof 12
Neurobiology of Disease|January 25, 2020
Distal motor neuropathy associated with novel EMILIN1 mutationMichele Iacomino, Roberto Doliana, Maria Marchese, et al.
Journal of Inherited Metabolic Disease|May 10, 2012
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patientsDenise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Nature Genetics|February 27, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin, Filippo M Santorelli, Hamid Azzedine, et al.
Ebiomedicine|January 22, 2024
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxiaHang Lyu, Christian M Boßelmann, Katrine M Johannesen, et al.
Human Mutation|February 27, 2009
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional studyAlessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, et al.
Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Clinical Genetics|February 1, 2025
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier ApproachRoberta Petillo, Ilaria De Maggio, Carmelo Piscopo, et al.
International Journal of Molecular Sciences|August 27, 2021
NGS in Hereditary Ataxia: When Rare Becomes FrequentDaniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.
Journal of Neurology|September 6, 2021
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature reviewStefania Della Vecchia, Alessandra Tessa, Claudia Dosi, et al.
Pageof 12