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S Servidei

Showing results (131-140 of 146) with videos related to

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Pediatric Research|September 1, 1990
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathyI Tein, D C De Vivo, F Bierman, et al.
Neurology|September 17, 1999
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13S Servidei, F Capon, A Spinazzola, et al.
Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.
Neuromuscular Disorders : NMD|June 26, 1999
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the diseaseG Galluzzi, G Deidda, S Cacurri, et al.
Annals of Neurology|June 9, 1999
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotypeE Ricci, G Galluzzi, G Deidda, et al.
Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.
Neuromuscular Disorders : NMD|January 1, 1997
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysisG Fouad, M Dalakas, S Servidei, et al.
Journal of Neurology|July 14, 2021
Adult-onset mitochondrial movement disorders: a national picture from the Italian NetworkV Montano, D Orsucci, V Carelli, et al.
Neurology|November 10, 2004
Correlating phenotype and genotype in the periodic paralysesT M Miller, M R Dias da Silva, H A Miller, et al.
Neurology|May 23, 2007
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesiaM K Bruno, H-Y Lee, G W J Auburger, et al.
Pageof 15

Showing results (131-140 of 146) with videos related to

Sort By:
Pageof 15
Pediatric Research|September 1, 1990
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathyI Tein, D C De Vivo, F Bierman, et al.
Neurology|September 17, 1999
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13S Servidei, F Capon, A Spinazzola, et al.
Neuromuscular Disorders : NMD|November 28, 2012
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseasesM Mancuso, C Angelini, E Bertini, et al.
Neuromuscular Disorders : NMD|June 26, 1999
Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the diseaseG Galluzzi, G Deidda, S Cacurri, et al.
Annals of Neurology|June 9, 1999
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotypeE Ricci, G Galluzzi, G Deidda, et al.
Neurology|April 12, 2003
Cerebellar ataxia and coenzyme Q10 deficiencyC Lamperti, A Naini, M Hirano, et al.
Neuromuscular Disorders : NMD|January 1, 1997
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysisG Fouad, M Dalakas, S Servidei, et al.
Journal of Neurology|July 14, 2021
Adult-onset mitochondrial movement disorders: a national picture from the Italian NetworkV Montano, D Orsucci, V Carelli, et al.
Neurology|November 10, 2004
Correlating phenotype and genotype in the periodic paralysesT M Miller, M R Dias da Silva, H A Miller, et al.
Neurology|May 23, 2007
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesiaM K Bruno, H-Y Lee, G W J Auburger, et al.
Pageof 15