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D Pareyson

Showing results (91-100 of 113) with videos related to

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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 6, 2007
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre studyL Padua, I Aprile, T Cavallaro, et al.
Neuromuscular Disorders : NMD|June 28, 2016
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1bL Corrado, S Magri, A Bagarotti, et al.
Journal of Neurology|January 11, 2001
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe diseaseS Selleri, E Torchiana, D Pareyson, et al.
Neuromuscular Disorders : NMD|July 19, 2000
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 familiesC Mariotti, B Castellotti, D Pareyson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 23, 2008
Late presentation of leucoencephalopathy with calcifications and cysts: report of two casesC Marelli, M Savoiardo, N Fini, et al.
Neuromuscular Disorders : NMD|January 2, 2014
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's diseaseA Sagnelli, M Savoiardo, C Marchesi, et al.
European Neurology|July 15, 2000
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian familiesA Filla, C Mariotti, G Caruso, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 10, 2004
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian familiesC Mariotti, C Gellera, M Rimoldi, et al.
European Journal of Neurology|May 11, 2016
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of lifeL Padua, C Pazzaglia, D Pareyson, et al.
Neurology|March 15, 2006
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type IIK Coen, D Pareyson, M Auer-Grumbach, et al.
Pageof 12

Showing results (91-100 of 113) with videos related to

Sort By:
Pageof 12
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 6, 2007
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre studyL Padua, I Aprile, T Cavallaro, et al.
Neuromuscular Disorders : NMD|June 28, 2016
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1bL Corrado, S Magri, A Bagarotti, et al.
Journal of Neurology|January 11, 2001
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe diseaseS Selleri, E Torchiana, D Pareyson, et al.
Neuromuscular Disorders : NMD|July 19, 2000
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 familiesC Mariotti, B Castellotti, D Pareyson, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 23, 2008
Late presentation of leucoencephalopathy with calcifications and cysts: report of two casesC Marelli, M Savoiardo, N Fini, et al.
Neuromuscular Disorders : NMD|January 2, 2014
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's diseaseA Sagnelli, M Savoiardo, C Marchesi, et al.
European Neurology|July 15, 2000
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian familiesA Filla, C Mariotti, G Caruso, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 10, 2004
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian familiesC Mariotti, C Gellera, M Rimoldi, et al.
European Journal of Neurology|May 11, 2016
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of lifeL Padua, C Pazzaglia, D Pareyson, et al.
Neurology|March 15, 2006
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type IIK Coen, D Pareyson, M Auer-Grumbach, et al.
Pageof 12