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Davide Mei

Showing results (41-50 of 110) with videos related to

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American Journal of Medical Genetics. Part A|March 23, 2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defectsCarla Marini, Katia Hardies, Tiziana Pisano, et al.
Cerebral Cortex (New York, N.Y. : 1991)|June 26, 2020
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 EncephalopathyMatteo Lenge, Carla Marini, Edoardo Canale, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Epilepsia|January 24, 2004
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutationsPaolo Bonanni, Michela Malcarne, Francesca Moro, et al.
Archives of Neurology|May 11, 2011
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsySaul A Mullen, Carla Marini, Arvid Suls, et al.
Epilepsy Research|November 28, 2012
Do mutations in SCN1B cause Dravet syndrome?Young Ok Kim, Leanne Dibbens, Carla Marini, et al.
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Pediatric Neurology|December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsSabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Pageof 11

Showing results (41-50 of 110) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|March 23, 2017
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defectsCarla Marini, Katia Hardies, Tiziana Pisano, et al.
Cerebral Cortex (New York, N.Y. : 1991)|June 26, 2020
Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 EncephalopathyMatteo Lenge, Carla Marini, Edoardo Canale, et al.
Molecular Genetics and Metabolism|February 9, 2021
Morquio B disease: From pathophysiology towards diagnosisAnna Caciotti, Lucrezia Cellai, Rodolfo Tonin, et al.
Epilepsia|January 24, 2004
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutationsPaolo Bonanni, Michela Malcarne, Francesca Moro, et al.
Archives of Neurology|May 11, 2011
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsySaul A Mullen, Carla Marini, Arvid Suls, et al.
Epilepsy Research|November 28, 2012
Do mutations in SCN1B cause Dravet syndrome?Young Ok Kim, Leanne Dibbens, Carla Marini, et al.
Endocrine Connections|August 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literatureAlessandro Barbato, Giulia Gori, Michele Sacchini, et al.
Neurology. Genetics|December 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term OutcomesFilippo Manti, Giacomina Ricciardi, Francesca Nardecchia, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Pediatric Neurology|December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsSabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Pageof 11