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E Bertini

Showing results (91-100 of 205) with videos related to

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European Journal of Pediatrics|September 1, 1990
Cardiomyopathy and multicore myopathy with accumulation of intermediate filamentsE Bertini, C Bosman, M Bevilacqua, et al.
Neurology|September 12, 2000
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationF M Santorelli, C Patrono, D Fortini, et al.
Neuromuscular Disorders : NMD|November 18, 2005
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C geneA D'Amico, S Benedetti, S Petrini, et al.
Muscle & Nerve|October 27, 1997
Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findingsD Restuccia, V Di Lazzaro, M Valeriani, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2001
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VIO Camacho Vanegas, E Bertini, R Z Zhang, et al.
Neuromuscular Disorders : NMD|July 19, 2000
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiencyL Santoro, R Carrozzo, A Malandrini, et al.
European Journal of Clinical Investigation|December 12, 2001
Glutathione in blood of patients with Friedreich's ataxiaF Piemonte, A Pastore, G Tozzi, et al.
Clinical Genetics|January 15, 2008
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplicationsS Regis, R Biancheri, E Bertini, et al.
Neuromuscular Disorders : NMD|July 10, 1999
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagenG Pepe, E Bertini, B Giusti, et al.
American Journal of Medical Genetics|January 1, 1988
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothersC Dionisi Vici, G Sabetta, M Gambarara, et al.
Pageof 21

Showing results (91-100 of 205) with videos related to

Sort By:
Pageof 21
European Journal of Pediatrics|September 1, 1990
Cardiomyopathy and multicore myopathy with accumulation of intermediate filamentsE Bertini, C Bosman, M Bevilacqua, et al.
Neurology|September 12, 2000
Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationF M Santorelli, C Patrono, D Fortini, et al.
Neuromuscular Disorders : NMD|November 18, 2005
Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C geneA D'Amico, S Benedetti, S Petrini, et al.
Muscle & Nerve|October 27, 1997
Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findingsD Restuccia, V Di Lazzaro, M Valeriani, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2001
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VIO Camacho Vanegas, E Bertini, R Z Zhang, et al.
Neuromuscular Disorders : NMD|July 19, 2000
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiencyL Santoro, R Carrozzo, A Malandrini, et al.
European Journal of Clinical Investigation|December 12, 2001
Glutathione in blood of patients with Friedreich's ataxiaF Piemonte, A Pastore, G Tozzi, et al.
Clinical Genetics|January 15, 2008
Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplicationsS Regis, R Biancheri, E Bertini, et al.
Neuromuscular Disorders : NMD|July 10, 1999
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagenG Pepe, E Bertini, B Giusti, et al.
American Journal of Medical Genetics|January 1, 1988
Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothersC Dionisi Vici, G Sabetta, M Gambarara, et al.
Pageof 21