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Pediatric Neurology
|
December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Journal of Medical Genetics
|
January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Parkinsonism & Related Disorders
|
January 16, 2019
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review
Tommaso Schirinzi, Giacomo Garone, Lorena Travaglini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 24, 2016
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Parkinsonism & Related Disorders
|
July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology
Giacomo Garone, Alice Innocenti, Melissa Grasso, et al.
Archives of Disease in Childhood
|
March 10, 2018
Acute hyperkinetic movement disorders in Italian paediatric emergency departments
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, et al.
Viruses
|
April 23, 2022
Subacute Sclerosing Panencephalitis in Children: The Archetype of Non-Vaccination
Laura Papetti, Maria Elisa Amodeo, Letizia Sabatini, et al.
Clinical Epigenetics
|
August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
American Journal of Human Genetics
|
September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Elisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 12, 2021
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors
Alessandro Orsini, Thomas Foiadelli, Mariasole Magistrali, et al.
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Search research articles
Search
Showing results (61-70 of 71) with videos related to
Sort By:
Page
of 8
Pediatric Neurology
|
December 15, 2019
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations
Sabina Barresi, Maria Lisa Dentici, Francesca Manzoni, et al.
Journal of Medical Genetics
|
January 5, 2021
Biallelic variants in <i>ZNF526</i> cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, et al.
Parkinsonism & Related Disorders
|
January 16, 2019
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review
Tommaso Schirinzi, Giacomo Garone, Lorena Travaglini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 24, 2016
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Parkinsonism & Related Disorders
|
July 27, 2024
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology
Giacomo Garone, Alice Innocenti, Melissa Grasso, et al.
Archives of Disease in Childhood
|
March 10, 2018
Acute hyperkinetic movement disorders in Italian paediatric emergency departments
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, et al.
Viruses
|
April 23, 2022
Subacute Sclerosing Panencephalitis in Children: The Archetype of Non-Vaccination
Laura Papetti, Maria Elisa Amodeo, Letizia Sabatini, et al.
Clinical Epigenetics
|
August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Andrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.
American Journal of Human Genetics
|
September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Elisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 12, 2021
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors
Alessandro Orsini, Thomas Foiadelli, Mariasole Magistrali, et al.
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