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Franco Taroni

Showing results (101-110 of 204) with videos related to

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Clinical Parkinsonism & Related Disorders|January 29, 2025
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesionsNicola Rifino, Silvia Baratta, Esteban Zacarias, et al.
Neurology|July 11, 2019
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophySilvia Fenu, Barbara Castellotti, Laura Farina, et al.
Neuromuscular Disorders : NMD|July 27, 2007
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiencyOlimpia Musumeci, Mohammed Aguennouz, Giacomo Pietro Comi, et al.
Neuromuscular Disorders : NMD|October 19, 2010
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 geneChiara Marchesi, Claudia Ciano, Ettore Salsano, et al.
Journal of the Peripheral Nervous System : JPNS|May 28, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)Giuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.
Journal of the Neurological Sciences|August 11, 2014
Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutationMarco Luigetti, Franco Taroni, Micaela Milani, et al.
Journal of the Peripheral Nervous System : JPNS|December 17, 2016
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsyAnna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, et al.
Plos One|June 27, 2013
Is the oxidant/antioxidant status altered in CADASIL patients?Jonica Campolo, Renata De Maria, Caterina Mariotti, et al.
Archives of Neurology|May 19, 2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian familiesAlfredo Brusco, Cinzia Gellera, Claudia Cagnoli, et al.
Journal of Proteome Research|June 18, 2025
Correlation Networks To Uncover Changes in Protein Relationships in Spinocerebellar Ataxia Type 2 and Cerebellar Multiple System AtrophyAurelia Morabito, Giulia De Simone, Stefania Magri, et al.
Pageof 21

Showing results (101-110 of 204) with videos related to

Sort By:
Pageof 21
Clinical Parkinsonism & Related Disorders|January 29, 2025
Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesionsNicola Rifino, Silvia Baratta, Esteban Zacarias, et al.
Neurology|July 11, 2019
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophySilvia Fenu, Barbara Castellotti, Laura Farina, et al.
Neuromuscular Disorders : NMD|July 27, 2007
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiencyOlimpia Musumeci, Mohammed Aguennouz, Giacomo Pietro Comi, et al.
Neuromuscular Disorders : NMD|October 19, 2010
Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 geneChiara Marchesi, Claudia Ciano, Ettore Salsano, et al.
Journal of the Peripheral Nervous System : JPNS|May 28, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)Giuseppe Piscosquito, Paola Saveri, Stefania Magri, et al.
Journal of the Neurological Sciences|August 11, 2014
Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutationMarco Luigetti, Franco Taroni, Micaela Milani, et al.
Journal of the Peripheral Nervous System : JPNS|December 17, 2016
Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsyAnna Sagnelli, Giuseppe Piscosquito, Daniela Di Bella, et al.
Plos One|June 27, 2013
Is the oxidant/antioxidant status altered in CADASIL patients?Jonica Campolo, Renata De Maria, Caterina Mariotti, et al.
Archives of Neurology|May 19, 2004
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian familiesAlfredo Brusco, Cinzia Gellera, Claudia Cagnoli, et al.
Journal of Proteome Research|June 18, 2025
Correlation Networks To Uncover Changes in Protein Relationships in Spinocerebellar Ataxia Type 2 and Cerebellar Multiple System AtrophyAurelia Morabito, Giulia De Simone, Stefania Magri, et al.
Pageof 21