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Enrico Bugiardini

Showing results (11-20 of 66) with videos related to

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Plos One|December 31, 2013
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2Rosanna Cardani, Enrico Bugiardini, Laura V Renna, et al.
Muscle & Nerve|February 2, 2010
Small fiber neuropathy in female patients with fabry diseaseRocco Liguori, Vitantonio Di Stasi, Enrico Bugiardini, et al.
Journal of Sleep Research|November 22, 2008
Sympathetic and cardiovascular activity during cataplexy in narcolepsyVincenzo Donadio, Giuseppe Plazzi, Stefano Vandi, et al.
Journal of Sleep Research|August 25, 2007
Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepinessVincenzo Donadio, Rocco Liguori, Roberto Vetrugno, et al.
The Journal of Clinical Investigation|November 20, 2012
GSK3β mediates muscle pathology in myotonic dystrophyKarlie Jones, Christina Wei, Polina Iakova, et al.
International Journal of Molecular Sciences|November 25, 2023
A Novel Variant in <i>TPM3</i> Causing Muscle Weakness and Concomitant Hypercontractile PhenotypeKatarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I Wadman, et al.
Mitochondrion|February 12, 2019
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1Olivia V Poole, Chris M Everett, Sonia Gandhi, et al.
European Journal of Clinical Investigation|May 8, 2015
Gonadal failure is associated with visceral adiposity in myotonic dystrophiesElena Passeri, Enrico Bugiardini, Valeria A Sansone, et al.
Plos One|April 12, 2014
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2Alessandra Perfetti, Simona Greco, Pasquale Fasanaro, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Pageof 7

Showing results (11-20 of 66) with videos related to

Sort By:
Pageof 7
Plos One|December 31, 2013
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2Rosanna Cardani, Enrico Bugiardini, Laura V Renna, et al.
Muscle & Nerve|February 2, 2010
Small fiber neuropathy in female patients with fabry diseaseRocco Liguori, Vitantonio Di Stasi, Enrico Bugiardini, et al.
Journal of Sleep Research|November 22, 2008
Sympathetic and cardiovascular activity during cataplexy in narcolepsyVincenzo Donadio, Giuseppe Plazzi, Stefano Vandi, et al.
Journal of Sleep Research|August 25, 2007
Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepinessVincenzo Donadio, Rocco Liguori, Roberto Vetrugno, et al.
The Journal of Clinical Investigation|November 20, 2012
GSK3β mediates muscle pathology in myotonic dystrophyKarlie Jones, Christina Wei, Polina Iakova, et al.
International Journal of Molecular Sciences|November 25, 2023
A Novel Variant in <i>TPM3</i> Causing Muscle Weakness and Concomitant Hypercontractile PhenotypeKatarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I Wadman, et al.
Mitochondrion|February 12, 2019
Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1Olivia V Poole, Chris M Everett, Sonia Gandhi, et al.
European Journal of Clinical Investigation|May 8, 2015
Gonadal failure is associated with visceral adiposity in myotonic dystrophiesElena Passeri, Enrico Bugiardini, Valeria A Sansone, et al.
Plos One|April 12, 2014
Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2Alessandra Perfetti, Simona Greco, Pasquale Fasanaro, et al.
Neurology. Genetics|July 14, 2017
Homozygous mutation in <i>HSPB1</i> causing distal vacuolar myopathy and motor neuropathyEnrico Bugiardini, Alexander M Rossor, David S Lynch, et al.
Pageof 7