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Cerebellum (London, England)
|
September 17, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
Martina De Riggi, Agnese De Giorgi, Luca Pollini, et al.
Journal of Neurology
|
December 4, 2025
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia
Federica Novarella, Alessandra Tessa, Chiara Criscuolo, et al.
Human Mutation
|
June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
Alessandra Tessa, Sergio Salvi, Carlo Casali, 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 Neurology
|
July 22, 2021
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
Giovanna De Michele, Daniele Galatolo, Serena Galosi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
July 23, 2021
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, et al.
Annals of Clinical and Translational Neurology
|
March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.
Genes
|
March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.
Biochemical and Biophysical Research Communications
|
January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6
Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Human Mutation
|
January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
Chiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
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Search research articles
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Showing results (91-100 of 116) with videos related to
Sort By:
Page
of 12
Cerebellum (London, England)
|
September 17, 2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report
Martina De Riggi, Agnese De Giorgi, Luca Pollini, et al.
Journal of Neurology
|
December 4, 2025
Novel missense ALDH18A1 variant in a family with autosomal dominant spastic paraplegia
Federica Novarella, Alessandra Tessa, Chiara Criscuolo, et al.
Human Mutation
|
June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
Alessandra Tessa, Sergio Salvi, Carlo Casali, 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 Neurology
|
July 22, 2021
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
Giovanna De Michele, Daniele Galatolo, Serena Galosi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
July 23, 2021
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
Ilaria Di Donato, Antonio Gallo, Ivana Ricca, et al.
Annals of Clinical and Translational Neurology
|
March 28, 2020
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Angelica D'Amore, Alessandra Tessa, Valentina Naef, et al.
Genes
|
March 3, 2021
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, et al.
Biochemical and Biophysical Research Communications
|
January 13, 2009
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6
Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, et al.
Human Mutation
|
January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
Chiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Page
of 12