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Barbara Garavaglia

Showing results (61-70 of 129) with videos related to

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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.
Neurogenetics|January 20, 2021
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case seriesLuca Magistrelli, Roberta Croce, Fabiola De Marchi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 25, 2016
DYT2 screening in early-onset isolated dystoniaMiryam Carecchio, Chiara Reale, Federica Invernizzi, et al.
Frontiers in Cell and Developmental Biology|June 30, 2020
Exploring the Impact of <i>PARK2</i> Mutations on the Total and Mitochondrial Proteome of Human Skin FibroblastsMara Zilocchi, Ilaria Colugnat, Marta Lualdi, et al.
Neurology|August 24, 2014
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystoniaRoberto Cilia, Chiara Reale, Anna Castagna, et al.
Neurology|June 28, 2015
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsLaura Canafoglia, Isabella Gilioli, Federica Invernizzi, et al.
Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Orphanet Journal of Rare Diseases|February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.
Seminars in Pediatric Neurology|June 19, 2012
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulationCeleste Panteghini, Giovanna Zorzi, Paola Venco, et al.
Orphanet Journal of Rare Diseases|August 17, 2018
Encephalopathies with intracranial calcification in children: clinical and genetic characterizationDavide Tonduti, Celeste Panteghini, Anna Pichiecchio, et al.
Pageof 13

Showing results (61-70 of 129) with videos related to

Sort By:
Pageof 13
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.
Neurogenetics|January 20, 2021
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case seriesLuca Magistrelli, Roberta Croce, Fabiola De Marchi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 25, 2016
DYT2 screening in early-onset isolated dystoniaMiryam Carecchio, Chiara Reale, Federica Invernizzi, et al.
Frontiers in Cell and Developmental Biology|June 30, 2020
Exploring the Impact of <i>PARK2</i> Mutations on the Total and Mitochondrial Proteome of Human Skin FibroblastsMara Zilocchi, Ilaria Colugnat, Marta Lualdi, et al.
Neurology|August 24, 2014
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystoniaRoberto Cilia, Chiara Reale, Anna Castagna, et al.
Neurology|June 28, 2015
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsLaura Canafoglia, Isabella Gilioli, Federica Invernizzi, et al.
Human Mutation|September 15, 2004
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiencyVito Iacobazzi, Federica Invernizzi, Silvia Baratta, et al.
Orphanet Journal of Rare Diseases|February 5, 2013
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalyFilippo Maria Santorelli, Barbara Garavaglia, Francesco Cardona, et al.
Seminars in Pediatric Neurology|June 19, 2012
C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulationCeleste Panteghini, Giovanna Zorzi, Paola Venco, et al.
Orphanet Journal of Rare Diseases|August 17, 2018
Encephalopathies with intracranial calcification in children: clinical and genetic characterizationDavide Tonduti, Celeste Panteghini, Anna Pichiecchio, et al.
Pageof 13