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Elena Parrini

Showing results (51-60 of 82) with videos related to

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Neurology|February 17, 2017
Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutationsValentina Cetica, Sara Chiari, Davide Mei, et al.
American Journal of Medical Genetics. Part A|October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsyBeatrice De Maria, Simona Balestrini, Davide Mei, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
Brain : a Journal of Neurology|July 2, 2019
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease modelKevin Lüthy, Davide Mei, Baptiste Fischer, et al.
Cerebral Cortex (New York, N.Y. : 1991)|July 10, 2023
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndromeNicola Specchio, Marina Trivisano, Matteo Lenge, et al.
Annals of Neurology|July 3, 2003
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutationsRenzo Guerrini, Francesca Moro, Eva Andermann, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Neurology. Genetics|March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcomeFederica Rachele Danti, Serena Galosi, Marta Romani, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
Neurology|February 17, 2017
Clinical and genetic factors predicting Dravet syndrome in infants with <i>SCN1A</i> mutationsValentina Cetica, Sara Chiari, Davide Mei, et al.
American Journal of Medical Genetics. Part A|October 29, 2021
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsyBeatrice De Maria, Simona Balestrini, Davide Mei, et al.
Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.
Brain : a Journal of Neurology|July 2, 2019
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease modelKevin Lüthy, Davide Mei, Baptiste Fischer, et al.
Cerebral Cortex (New York, N.Y. : 1991)|July 10, 2023
CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndromeNicola Specchio, Marina Trivisano, Matteo Lenge, et al.
Annals of Neurology|July 3, 2003
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutationsRenzo Guerrini, Francesca Moro, Eva Andermann, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 17, 2024
Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocolSimone Gasparini, Simona Balestrini, Luigi Francesco Saccaro, et al.
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Neurology. Genetics|March 31, 2017
<i>GNAO1</i> encephalopathy: Broadening the phenotype and evaluating treatment and outcomeFederica Rachele Danti, Serena Galosi, Marta Romani, et al.
Pageof 9