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Parkinsonism & Related Disorders
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May 26, 2019
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families
Giovanna De Michele, Maria Lieto, Daniele Galatolo, et al.
Journal of Neurology
|
December 1, 2012
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene
Francesco Saccà, Angela Marsili, Giorgia Puorro, et al.
Human Mutation
|
April 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
Daniele Galatolo, Molly E Kuo, Patrick Mullen, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
December 10, 2013
Cerebellum and neuropsychiatric disorders: insights from ARSACS
Andrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, et al.
European Journal of Neurology
|
April 14, 2021
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, et al.
Neurogenetics
|
December 22, 2025
Miglustat does not impact clinical progression in patients with spastic paraplegia type 11
Serena Mero, Ivana Ricca, Salvatore Rossi, et al.
Genes
|
February 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in <i>PACS1</i>: An Italian Cohort Study
Stefano Pagano, Diego Lopergolo, Alessandro De Falco, et al.
Journal of Neurology
|
September 22, 2009
Complex phenotype in an Italian family with a novel mutation in SPG3A
Maria Fulvia de Leva, Alessandro Filla, Chiara Criscuolo, et al.
Journal of the Neurological Sciences
|
March 6, 2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
Andrea Mignarri, Anna Rubegni, Alessandra Tessa, et al.
Biochemical and Biophysical Research Communications
|
February 18, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, et al.
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of 12
Search research articles
Search
Showing results (71-80 of 116) with videos related to
Sort By:
Page
of 12
Parkinsonism & Related Disorders
|
May 26, 2019
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families
Giovanna De Michele, Maria Lieto, Daniele Galatolo, et al.
Journal of Neurology
|
December 1, 2012
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene
Francesco Saccà, Angela Marsili, Giorgia Puorro, et al.
Human Mutation
|
April 26, 2020
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome
Daniele Galatolo, Molly E Kuo, Patrick Mullen, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
December 10, 2013
Cerebellum and neuropsychiatric disorders: insights from ARSACS
Andrea Mignarri, Alessandra Tessa, Maria Alessandra Carluccio, et al.
European Journal of Neurology
|
April 14, 2021
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21
Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, et al.
Neurogenetics
|
December 22, 2025
Miglustat does not impact clinical progression in patients with spastic paraplegia type 11
Serena Mero, Ivana Ricca, Salvatore Rossi, et al.
Genes
|
February 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in <i>PACS1</i>: An Italian Cohort Study
Stefano Pagano, Diego Lopergolo, Alessandro De Falco, et al.
Journal of Neurology
|
September 22, 2009
Complex phenotype in an Italian family with a novel mutation in SPG3A
Maria Fulvia de Leva, Alessandro Filla, Chiara Criscuolo, et al.
Journal of the Neurological Sciences
|
March 6, 2016
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28
Andrea Mignarri, Anna Rubegni, Alessandra Tessa, et al.
Biochemical and Biophysical Research Communications
|
February 18, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, et al.
Page
of 12