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Neuropediatrics
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February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants
Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.
Seizure
|
June 8, 2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study
Mario Mastrangelo, Carlo Greco, Manuela Tolve, et al.
Parkinsonism & Related Disorders
|
January 8, 2025
Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Vito Luigi Colona, Giacomo Garone, Francesco Nicita, et al.
Journal of the Neurological Sciences
|
February 6, 2026
Plasma neurofilament light chain in pediatric hereditary spastic paraplegia
Jacopo Sartorelli, Sara Petrillo, Giacomo De Luca, et al.
Neuromuscular Disorders : NMD
|
February 10, 2024
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
Francesca Cumbo, Michele Tosi, Michela Catteruccia, et al.
Molecular Genetics and Metabolism
|
March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype
Jacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.
Seizure
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August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy
Angela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2015
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region
Francesco Nicita, Giacomo Garone, Alberto Spalice, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
Fabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.
Seizure
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July 12, 2011
Long-term outcome of epilepsy in Kabuki syndrome
Alberto Verrotti, Sergio Agostinelli, Chiara Cirillo, et al.
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of 12
Search research articles
Search
Showing results (61-70 of 120) with videos related to
Sort By:
Page
of 12
Neuropediatrics
|
February 6, 2025
Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants
Jacopo Sartorelli, Lorena Travaglini, Giacomo Garone, et al.
Seizure
|
June 8, 2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study
Mario Mastrangelo, Carlo Greco, Manuela Tolve, et al.
Parkinsonism & Related Disorders
|
January 8, 2025
Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Vito Luigi Colona, Giacomo Garone, Francesco Nicita, et al.
Journal of the Neurological Sciences
|
February 6, 2026
Plasma neurofilament light chain in pediatric hereditary spastic paraplegia
Jacopo Sartorelli, Sara Petrillo, Giacomo De Luca, et al.
Neuromuscular Disorders : NMD
|
February 10, 2024
Evolution of neuropsychological and behavioral profile in a cohort of pediatric patients with Becker muscular dystrophy in a longitudinal study
Francesca Cumbo, Michele Tosi, Michela Catteruccia, et al.
Molecular Genetics and Metabolism
|
March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotype
Jacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.
Seizure
|
August 23, 2024
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy
Angela De Dominicis, Fabrizia Stregapede, Vito Luigi Colona, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2015
Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region
Francesco Nicita, Giacomo Garone, Alberto Spalice, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency
Fabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.
Seizure
|
July 12, 2011
Long-term outcome of epilepsy in Kabuki syndrome
Alberto Verrotti, Sergio Agostinelli, Chiara Cirillo, et al.
Page
of 12