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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience
Jacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Journal of Neurology
|
July 15, 2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
Francesco Nicita, Fabrizia Stregapede, Alessandra Tessa, et al.
Journal of Child Neurology
|
October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
The Journal of Pediatrics
|
September 3, 2013
Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome
Alberto Verrotti, Raffaella Cusmai, Francesco Nicita, et al.
Molecular Genetics and Metabolism
|
December 31, 2021
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Silvia Masnada, Catherine Sarret, Clara Eleonora Antonello, et al.
Neuropediatrics
|
June 20, 2013
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype
Martino Ruggieri, Agata Polizzi, Vincenzo Salpietro, et al.
Pediatric Neurology
|
January 10, 2026
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Cell Communication and Signaling : CCS
|
February 3, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
Federica Rey, Alessia Casamassa, Samuele Di Cristofano, et al.
Journal of Neurology
|
August 14, 2023
White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.
Journal of Medical Genetics
|
August 2, 2020
Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Francesco Nicita, Monia Ginevrino, Lorena Travaglini, et al.
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Search research articles
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Showing results (91-100 of 120) with videos related to
Sort By:
Page
of 12
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience
Jacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Journal of Neurology
|
July 15, 2019
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
Francesco Nicita, Fabrizia Stregapede, Alessandra Tessa, et al.
Journal of Child Neurology
|
October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
The Journal of Pediatrics
|
September 3, 2013
Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome
Alberto Verrotti, Raffaella Cusmai, Francesco Nicita, et al.
Molecular Genetics and Metabolism
|
December 31, 2021
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
Silvia Masnada, Catherine Sarret, Clara Eleonora Antonello, et al.
Neuropediatrics
|
June 20, 2013
Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype
Martino Ruggieri, Agata Polizzi, Vincenzo Salpietro, et al.
Pediatric Neurology
|
January 10, 2026
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Cell Communication and Signaling : CCS
|
February 3, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
Federica Rey, Alessia Casamassa, Samuele Di Cristofano, et al.
Journal of Neurology
|
August 14, 2023
White matter abnormalities in 15 subjects with SPG76
Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, et al.
Journal of Medical Genetics
|
August 2, 2020
Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Francesco Nicita, Monia Ginevrino, Lorena Travaglini, et al.
Page
of 12