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Alessandro Simonati

Showing results (31-40 of 76) with videos related to

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Journal of Mass Spectrometry : JMS|December 14, 2020
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetryStefan Maeser, Brindusa-Alina Petre, Laura Ion, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 9, 2006
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosisMaria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, et al.
European Journal of Medical Genetics|December 1, 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disordersMario Mastrangelo, Stefano Sartori, Alessandro Simonati, et al.
Frontiers in Cellular Neuroscience|January 4, 2021
Electrophysiological Profile Remodeling <i>via</i> Selective Suppression of Voltage-Gated Currents by <i>CLN1</i>/PPT1 Overexpression in Human Neuronal-Like CellsGian Carlo Demontis, Francesco Pezzini, Elisa Margari, et al.
Journal of Neurology|April 14, 2016
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSDStefano Doccini, Stefano Sartori, Stefan Maeser, et al.
Journal of Anatomy|June 17, 2004
Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imagingAndrea Sbarbati, Francesca Pizzini, Paolo F Fabene, et al.
Pediatric Neurology|March 24, 2009
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutationsAlessandro Simonati, Alessandra Tessa, Bernardo Dalla Bernardina, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Cellular and Molecular Neurobiology|July 17, 2016
Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma CellsFrancesco Pezzini, Laura Bettinetti, Francesca Di Leva, et al.
Pageof 8

Showing results (31-40 of 76) with videos related to

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Pageof 8
Journal of Mass Spectrometry : JMS|December 14, 2020
Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetryStefan Maeser, Brindusa-Alina Petre, Laura Ion, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 9, 2006
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosisMaria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, et al.
European Journal of Medical Genetics|December 1, 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disordersMario Mastrangelo, Stefano Sartori, Alessandro Simonati, et al.
Frontiers in Cellular Neuroscience|January 4, 2021
Electrophysiological Profile Remodeling <i>via</i> Selective Suppression of Voltage-Gated Currents by <i>CLN1</i>/PPT1 Overexpression in Human Neuronal-Like CellsGian Carlo Demontis, Francesco Pezzini, Elisa Margari, et al.
Journal of Neurology|April 14, 2016
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSDStefano Doccini, Stefano Sartori, Stefan Maeser, et al.
Journal of Anatomy|June 17, 2004
Cerebral cortex three-dimensional profiling in human fetuses by magnetic resonance imagingAndrea Sbarbati, Francesca Pizzini, Paolo F Fabene, et al.
Pediatric Neurology|March 24, 2009
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutationsAlessandro Simonati, Alessandra Tessa, Bernardo Dalla Bernardina, et al.
Neurology. Genetics|May 21, 2021
Migrating Focal Seizures and Myoclonic Status in <i>ARV1-</i>Related EncephalopathyFrancesca Darra, Tommaso Lo Barco, Roberta Opri, et al.
Cellular and Molecular Neurobiology|July 17, 2016
Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma CellsFrancesco Pezzini, Laura Bettinetti, Francesca Di Leva, et al.
Pageof 8