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Franco Taroni

Showing results (181-190 of 204) with videos related to

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Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
European Journal of Human Genetics : EJHG|June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypesEliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
Neurobiology of Aging|May 20, 2014
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival studyPerry T C van Doormaal, Nicola Ticozzi, Cinzia Gellera, et al.
Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Journal of Neurology|October 13, 2018
The role of clinical and neuroimaging features in the diagnosis of CADASILAnna Bersano, Gloria Bedini, Hugh Stephen Markus, et al.
Pageof 21

Showing results (181-190 of 204) with videos related to

Sort By:
Pageof 21
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
European Journal of Human Genetics : EJHG|June 30, 2018
Primary brain calcification: an international study reporting novel variants and associated phenotypesEliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.
American Journal of Human Genetics|December 3, 2014
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2Ellen Cottenie, Andrzej Kochanski, Albena Jordanova, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
Neurobiology of Aging|May 20, 2014
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival studyPerry T C van Doormaal, Nicola Ticozzi, Cinzia Gellera, et al.
Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Journal of Neurology|October 13, 2018
The role of clinical and neuroimaging features in the diagnosis of CADASILAnna Bersano, Gloria Bedini, Hugh Stephen Markus, et al.
Pageof 21