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Barbara Garavaglia

Showing results (31-40 of 129) with videos related to

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Human Molecular Genetics|June 14, 2012
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling propertiesAlessandro Campanella, Daniela Privitera, Michela Guaraldo, et al.
Journal of the Neurological Sciences|January 3, 2016
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary choreaClaudia Provenzano, Michela Zamboni, Liana Veneziano, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Parkinsonism & Related Disorders|October 28, 2021
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulationMarcella Neri, Arianna Braccia, Celeste Panteghini, et al.
Frontiers in Genetics|March 28, 2015
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblastsMaria C Zanellati, Valentina Monti, Chiara Barzaghi, et al.
Current Neurology and Neuroscience Reports|April 15, 2016
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic ApproachDavide Tonduti, Luisa Chiapparini, Isabella Moroni, et al.
JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 1, 2008
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional studyVania Gelmetti, Alessandro Ferraris, Livia Brusa, et al.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Cerebellum (London, England)|January 17, 2017
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal DystrophyMario Mascalchi, Francesco Mari, Beatrice Berti, et al.
Pageof 13

Showing results (31-40 of 129) with videos related to

Sort By:
Pageof 13
Human Molecular Genetics|June 14, 2012
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling propertiesAlessandro Campanella, Daniela Privitera, Michela Guaraldo, et al.
Journal of the Neurological Sciences|January 3, 2016
Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary choreaClaudia Provenzano, Michela Zamboni, Liana Veneziano, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Parkinsonism & Related Disorders|October 28, 2021
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulationMarcella Neri, Arianna Braccia, Celeste Panteghini, et al.
Frontiers in Genetics|March 28, 2015
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblastsMaria C Zanellati, Valentina Monti, Chiara Barzaghi, et al.
Current Neurology and Neuroscience Reports|April 15, 2016
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic ApproachDavide Tonduti, Luisa Chiapparini, Isabella Moroni, et al.
JIMD Reports|February 2, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of LiteratureAnna Ardissone, Eleonora Lamantea, Jade Quartararo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 1, 2008
Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional studyVania Gelmetti, Alessandro Ferraris, Livia Brusa, et al.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Cerebellum (London, England)|January 17, 2017
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal DystrophyMario Mascalchi, Francesco Mari, Beatrice Berti, et al.
Pageof 13