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Current Genomics
|
September 28, 2018
A Review of Copy Number Variants in Inherited Neuropathies
Vincenzo Salpietro, Andreea Manole, Stephanie Efthymiou, et al.
Journal of Pediatric Genetics
|
August 15, 2018
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, et al.
Frontiers in Neurology
|
January 31, 2022
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, et al.
The American Journal of the Medical Sciences
|
November 29, 2012
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism
M Usman Khan, Heena Khalid, Vincenzo Salpietro, et al.
Journal of Clinical Medicine
|
January 23, 2024
The Cognitive and Behavioural Effects of Perampanel in Children with Neurodevelopmental Disorders: A Systematic Review
Giovanna Scorrano, Simona Lattanzi, Vincenzo Salpietro, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
Thomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Frontiers in Cell and Developmental Biology
|
November 6, 2020
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
Simona Baldassari, Ilaria Musante, Michele Iacomino, et al.
Journal of Child Neurology
|
May 3, 2014
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis
Mark Thomas, Vincenzo Salpietro, Natalie Canham, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
December 18, 2020
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
Rosaria Nardello, Giuseppe Donato Mangano, Francesco Miceli, et al.
Nutrients
|
June 13, 2025
AMPA Receptor Modulation Through Medium-Chain Triglycerides and Decanoic Acid Supports Nutritional Intervention in Pediatric Epilepsy
Raffaele Falsaperla, Vincenzo Sortino, Miguel Angel Soler, et al.
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of 18
Search research articles
Search
Showing results (1-10 of 176) with videos related to
Sort By:
Page
of 18
Current Genomics
|
September 28, 2018
A Review of Copy Number Variants in Inherited Neuropathies
Vincenzo Salpietro, Andreea Manole, Stephanie Efthymiou, et al.
Journal of Pediatric Genetics
|
August 15, 2018
Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in <i>KAT6A</i>
Stephanie Efthymiou, Vincenzo Salpietro, Conceicao Bettencourt, et al.
Frontiers in Neurology
|
January 31, 2022
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, et al.
The American Journal of the Medical Sciences
|
November 29, 2012
Idiopathic intracranial hypertension associated with either primary or secondary aldosteronism
M Usman Khan, Heena Khalid, Vincenzo Salpietro, et al.
Journal of Clinical Medicine
|
January 23, 2024
The Cognitive and Behavioural Effects of Perampanel in Children with Neurodevelopmental Disorders: A Systematic Review
Giovanna Scorrano, Simona Lattanzi, Vincenzo Salpietro, et al.
European Journal of Human Genetics : EJHG
|
April 7, 2021
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders
Thomas Bourinaris, Alkyoni Athanasiou, Stephanie Efthymiou, et al.
Frontiers in Cell and Developmental Biology
|
November 6, 2020
Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders
Simona Baldassari, Ilaria Musante, Michele Iacomino, et al.
Journal of Child Neurology
|
May 3, 2014
Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis
Mark Thomas, Vincenzo Salpietro, Natalie Canham, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
December 18, 2020
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?
Rosaria Nardello, Giuseppe Donato Mangano, Francesco Miceli, et al.
Nutrients
|
June 13, 2025
AMPA Receptor Modulation Through Medium-Chain Triglycerides and Decanoic Acid Supports Nutritional Intervention in Pediatric Epilepsy
Raffaele Falsaperla, Vincenzo Sortino, Miguel Angel Soler, et al.
Page
of 18