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Claudio Bruno

Showing results (61-70 of 302) with videos related to

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Molecular Genetics and Metabolism|August 12, 2008
Unclassified polysaccharidosis of the heart and skeletal muscle in siblingsBenedikt Schoser, Claudio Bruno, Hans-Christian Schneider, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|March 16, 2023
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in SarcoglycanopathiesAndrea Benzi, Serena Baratto, Cecilia Astigiano, et al.
Neuropediatrics|January 24, 2023
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH DeficiencyCarolina Croci, Matteo Cataldi, Serena Baratto, et al.
Italian Journal of Pediatrics|November 17, 2017
Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.
Immunotherapy|July 5, 2022
Effectiveness of COVID-19 vaccines against Omicron variantDaniel Melo de Oliveira Campos, Maria Karolaynne da Silva, Claudio Bruno Silva de Oliveira, et al.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Muscle & Nerve|September 25, 2003
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b geneClaudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.
Journal of Child Neurology|November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Acta Neuropathologica Communications|September 13, 2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samplesMarco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, et al.
Neuromuscular Disorders : NMD|October 13, 2019
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I geneAdele D'Amico, Fabiana Fattori, Chiara Fiorillo, et al.
Pageof 31

Showing results (61-70 of 302) with videos related to

Sort By:
Pageof 31
Molecular Genetics and Metabolism|August 12, 2008
Unclassified polysaccharidosis of the heart and skeletal muscle in siblingsBenedikt Schoser, Claudio Bruno, Hans-Christian Schneider, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|March 16, 2023
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in SarcoglycanopathiesAndrea Benzi, Serena Baratto, Cecilia Astigiano, et al.
Neuropediatrics|January 24, 2023
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH DeficiencyCarolina Croci, Matteo Cataldi, Serena Baratto, et al.
Italian Journal of Pediatrics|November 17, 2017
Congenital myopathies: clinical phenotypes and new diagnostic toolsDenise Cassandrini, Rosanna Trovato, Anna Rubegni, et al.
Immunotherapy|July 5, 2022
Effectiveness of COVID-19 vaccines against Omicron variantDaniel Melo de Oliveira Campos, Maria Karolaynne da Silva, Claudio Bruno Silva de Oliveira, et al.
Journal of Child Neurology|May 25, 2002
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiencyClaudio Bruno, Roberta Biancheri, Barbara Garavaglia, et al.
Muscle & Nerve|September 25, 2003
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b geneClaudio Bruno, Filippo M Santorelli, Stefania Assereto, et al.
Journal of Child Neurology|November 10, 2006
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidismDenise Cassandrini, Salvatore Savasta, Mauro Bozzola, et al.
Acta Neuropathologica Communications|September 13, 2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samplesMarco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, et al.
Neuromuscular Disorders : NMD|October 13, 2019
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I geneAdele D'Amico, Fabiana Fattori, Chiara Fiorillo, et al.
Pageof 31