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Marcello Scala

Showing results (51-60 of 155) with videos related to

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Frontiers in Pediatrics|March 16, 2023
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?Cristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Cells|October 15, 2025
A Pleiotropic and Functionally Divergent <i>RAC3</i> Variant Disrupts Neurodevelopment and Impacts OrganogenesisRyota Sugawara, Marcello Scala, Sara Cabet, et al.
European Journal of Medical Genetics|July 21, 2018
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformationsAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.
Molecular Genetics & Genomic Medicine|May 3, 2021
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndromeGiulia Romanisio, Cristina Chelleri, Marcello Scala, et al.
Epilepsia Open|February 13, 2026
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domainAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.
World Neurosurgery|December 6, 2019
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature ReviewMarcello Scala, Pietro Fiaschi, Armando Cama, et al.
American Journal of Medical Genetics. Part A|September 22, 2018
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndromeAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.
American Journal of Medical Genetics. Part A|July 20, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansionCristina Chelleri, Noemi Brolatti, Patrizia De Marco, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
European Journal of Human Genetics : EJHG|March 28, 2023
Expanding the phenotype associated with biallelic SLC20A2 variantsGianluca D'Onofrio, Marcello Scala, Mariasavina Severino, et al.
Pageof 16

Showing results (51-60 of 155) with videos related to

Sort By:
Pageof 16
Frontiers in Pediatrics|March 16, 2023
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?Cristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Cells|October 15, 2025
A Pleiotropic and Functionally Divergent <i>RAC3</i> Variant Disrupts Neurodevelopment and Impacts OrganogenesisRyota Sugawara, Marcello Scala, Sara Cabet, et al.
European Journal of Medical Genetics|July 21, 2018
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformationsAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.
Molecular Genetics & Genomic Medicine|May 3, 2021
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndromeGiulia Romanisio, Cristina Chelleri, Marcello Scala, et al.
Epilepsia Open|February 13, 2026
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domainAnees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, et al.
World Neurosurgery|December 6, 2019
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature ReviewMarcello Scala, Pietro Fiaschi, Armando Cama, et al.
American Journal of Medical Genetics. Part A|September 22, 2018
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndromeAndrea Accogli, Marcello Scala, Annalisa Calcagno, et al.
American Journal of Medical Genetics. Part A|July 20, 2024
Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansionCristina Chelleri, Noemi Brolatti, Patrizia De Marco, et al.
Journal of Child Neurology|August 18, 2025
Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of <i>HADHA</i>-Related Disorder/ Mitochondrial Trifunctional Protein DefectGiulia Balletto, Giulia Barbagallo, Matteo Cataldi, et al.
European Journal of Human Genetics : EJHG|March 28, 2023
Expanding the phenotype associated with biallelic SLC20A2 variantsGianluca D'Onofrio, Marcello Scala, Mariasavina Severino, et al.
Pageof 16