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Marcello Scala

Showing results (41-50 of 155) with videos related to

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Molecular Genetics & Genomic Medicine|February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental SyndromeAlice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.
HGG Advances|March 11, 2026
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderMarcello Scala, Ranjan K Sahu, Mariasavina Severino, et al.
Epilepsia|April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel functionMarcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Biochemical and Biophysical Research Communications|June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disordersAntonella Riva, Michele Iacomino, Chiara Piccardo, et al.
Epilepsia Open|July 26, 2023
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature reviewAlice Dainelli, Michele Iacomino, Sara Rossato, et al.
Seizure|July 3, 2022
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case seriesNadia Ronzano, Marcello Scala, Emanuela Abiusi, et al.
European Journal of Medical Genetics|December 4, 2025
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansionFerruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, et al.
Neurogenetics|September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in femalesMarcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
Clinical Genetics|January 7, 2026
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain MalformationsAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.
Birth Defects Research|February 5, 2025
Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1Ferruccio Romano, Maria Cerminara, Patrizia De Marco, et al.
Pageof 16

Showing results (41-50 of 155) with videos related to

Sort By:
Pageof 16
Molecular Genetics & Genomic Medicine|February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental SyndromeAlice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.
HGG Advances|March 11, 2026
ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorderMarcello Scala, Ranjan K Sahu, Mariasavina Severino, et al.
Epilepsia|April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel functionMarcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Biochemical and Biophysical Research Communications|June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disordersAntonella Riva, Michele Iacomino, Chiara Piccardo, et al.
Epilepsia Open|July 26, 2023
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature reviewAlice Dainelli, Michele Iacomino, Sara Rossato, et al.
Seizure|July 3, 2022
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case seriesNadia Ronzano, Marcello Scala, Emanuela Abiusi, et al.
European Journal of Medical Genetics|December 4, 2025
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansionFerruccio Romano, Mohammad Sadegh Shams Nosrati, Francesca Madia, et al.
Neurogenetics|September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in femalesMarcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
Clinical Genetics|January 7, 2026
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain MalformationsAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.
Birth Defects Research|February 5, 2025
Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1Ferruccio Romano, Maria Cerminara, Patrizia De Marco, et al.
Pageof 16