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Mario Sabatelli

Showing results (111-120 of 179) with videos related to

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Neurobiology of Aging|March 21, 2015
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutationsMario Sabatelli, Marcella Zollino, Amelia Conte, et al.
European Journal of Neurology|January 16, 2024
Hospital admissions from the emergency department of adult patients affected by myopathiesMauro Monforte, Eleonora Torchia, Sara Bortolani, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 30, 2021
Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervationLuca Leonardi, Eleonora Galosi, Fiammetta Vanoli, et al.
Human Molecular Genetics|January 14, 2021
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesisSerena Lattante, Paolo Niccolò Doronzio, Amelia Conte, et al.
Genes|January 8, 2025
Exploring the Role of <i>CCNF</i> Variants in Italian ALS PatientsGiulia Bisogni, Amelia Conte, Umberto Costantino, et al.
Human Molecular Genetics|July 13, 2013
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosisMario Sabatelli, Alice Moncada, Amelia Conte, et al.
Brain : a Journal of Neurology|August 23, 2014
'Behr syndrome' with OPA1 compound heterozygote mutationsValerio Carelli, Mario Sabatelli, Rosalba Carrozzo, et al.
Cell Death Discovery|January 12, 2021
A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patientsGabriella Dobrowolny, Julie Martone, Elisa Lepore, et al.
Journal of Neurology|June 11, 2025
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control studyPaolo Niccolò Doronzio, Serena Lattante, Daniela Bernardo, et al.
Neurobiology of Aging|May 20, 2009
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutationAdriano Chiò, Gabriella Restagno, Maura Brunetti, et al.
Pageof 18

Showing results (111-120 of 179) with videos related to

Sort By:
Pageof 18
Neurobiology of Aging|March 21, 2015
Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutationsMario Sabatelli, Marcella Zollino, Amelia Conte, et al.
European Journal of Neurology|January 16, 2024
Hospital admissions from the emergency department of adult patients affected by myopathiesMauro Monforte, Eleonora Torchia, Sara Bortolani, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 30, 2021
Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervationLuca Leonardi, Eleonora Galosi, Fiammetta Vanoli, et al.
Human Molecular Genetics|January 14, 2021
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesisSerena Lattante, Paolo Niccolò Doronzio, Amelia Conte, et al.
Genes|January 8, 2025
Exploring the Role of <i>CCNF</i> Variants in Italian ALS PatientsGiulia Bisogni, Amelia Conte, Umberto Costantino, et al.
Human Molecular Genetics|July 13, 2013
Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosisMario Sabatelli, Alice Moncada, Amelia Conte, et al.
Brain : a Journal of Neurology|August 23, 2014
'Behr syndrome' with OPA1 compound heterozygote mutationsValerio Carelli, Mario Sabatelli, Rosalba Carrozzo, et al.
Cell Death Discovery|January 12, 2021
A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patientsGabriella Dobrowolny, Julie Martone, Elisa Lepore, et al.
Journal of Neurology|June 11, 2025
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control studyPaolo Niccolò Doronzio, Serena Lattante, Daniela Bernardo, et al.
Neurobiology of Aging|May 20, 2009
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutationAdriano Chiò, Gabriella Restagno, Maura Brunetti, et al.
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