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S Servidei

Showing results (31-40 of 146) with videos related to

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The Journal of Clinical Investigation|March 13, 1999
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysisD Tricarico, S Servidei, P Tonali, et al.
American Journal of Human Genetics|July 1, 1996
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2qG T Fouad, S Servidei, S Durcan, et al.
Neuromuscular Disorders : NMD|March 16, 2013
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathiesA D'Amico, F Fattori, E Bellacchio, et al.
Lancet (London, England)|September 16, 1995
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophyC Brahe, S Servidei, S Zappata, et al.
European Journal of Human Genetics : EJHG|October 20, 2000
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3F Sangiuolo, E Bruscia, F Capon, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our ExperienceC Sancricca, G Primiano, D Bernardo, et al.
Nature|May 25, 1989
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionM Zeviani, S Servidei, C Gellera, et al.
Annals of Neurology|December 1, 1988
McArdle's disease: biochemical and molecular genetic studiesS Servidei, S Shanske, M Zeviani, et al.
Acta Neuropathologica|January 1, 1992
Giant axonal neuropathy: report on a case with focal fiber lossM Sabatelli, E Bertini, S Servidei, et al.
American Journal of Human Genetics|May 1, 1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino, S Servidei, P Tonin, et al.
Pageof 15

Showing results (31-40 of 146) with videos related to

Sort By:
Pageof 15
The Journal of Clinical Investigation|March 13, 1999
Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysisD Tricarico, S Servidei, P Tonali, et al.
American Journal of Human Genetics|July 1, 1996
A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2qG T Fouad, S Servidei, S Durcan, et al.
Neuromuscular Disorders : NMD|March 16, 2013
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathiesA D'Amico, F Fattori, E Bellacchio, et al.
Lancet (London, England)|September 16, 1995
Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophyC Brahe, S Servidei, S Zappata, et al.
European Journal of Human Genetics : EJHG|October 20, 2000
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3F Sangiuolo, E Bruscia, F Capon, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Frequency of Cerebrovascular Abnormalities in Patients with Late-Onset Pompe Disease: Our ExperienceC Sancricca, G Primiano, D Bernardo, et al.
Nature|May 25, 1989
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop regionM Zeviani, S Servidei, C Gellera, et al.
Annals of Neurology|December 1, 1988
McArdle's disease: biochemical and molecular genetic studiesS Servidei, S Shanske, M Zeviani, et al.
Acta Neuropathologica|January 1, 1992
Giant axonal neuropathy: report on a case with focal fiber lossM Sabatelli, E Bertini, S Servidei, et al.
American Journal of Human Genetics|May 1, 1994
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiencyS Tsujino, S Servidei, P Tonin, et al.
Pageof 15