Search Results - "Tegazzin, Vincenzo"

Identification of Novel Mutations in the Ryanodine-Receptor Gene (RYR1) in Malignant Hyperthermia: Genotype-Phenotype Correlation by Manning, Bernadette M., Quane, Kathleen A., Ording, Helle, Urwyler, Albert, Tegazzin, Vincenzo, Lehane, Mary, O'Halloran, John, Hartung, Edmund, Giblin, Linda M., Lynch, Patrick J., Vaughan, Pat, Censier, Kathrin, Bendixen, Diana, Comi, Giacomo, Heytens, Luc, Monsieurs, Koen, Fagerlund, Tore, Wolz, Werner, Heffron, James J.A., Muller, Clemens R., McCarthy, Tommie V.

“…Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that is triggered in genetically predisposed individuals by common anesthetics and…”
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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study by Klingler, Werner, Heiderich, Sebastian, Girard, Thierry, Gravino, Elvira, Heffron, James Ja, Johannsen, Stephan, Jurkat-Rott, Karin, Rüffert, Henrik, Schuster, Frank, Snoeck, Marc, Sorrentino, Vincenzo, Tegazzin, Vincenzo, Lehmann-Horn, Frank

“…Malignant hyperthermia (MH) is a rare pharmacogenetic disorder which is characterized by life-threatening metabolic crises during general anesthesia. Classical…”
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Analysis of malignant hyperthermia results in Padua and Siena by Tegazzin, Vincenzo, Orrico, Alfredo, Galli, Lucia, Fanin, Marina, Rossi, Daniela

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Muscle Biopsy and In Vitro Contracture Test in Subjects with Idiopathic HyperCKemia by MALANDRINI, Alessandro, ORRICO, Alfredo, GAUDIANO, Carmen, GAMBELLI, Simona, GALLI, Lucia, BERTI, Gianna, TEGAZZIN, Vincenzo, DOTTI, Maria Teresa, FEDERICO, Antonio, SORRENTINO, Vincenzo

“…Persistent high creatine kinase (CK) levels may reflect underlying subclinical myopathies. In most cases, pathogenesis is unknown and clinical management is…”
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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia by Galli, Lucia, Orrico, Alfredo, Lorenzini, Stefania, Censini, Stefano, Falciani, Michela, Covacci, Antonello, Tegazzin, Vincenzo, Sorrentino, Vincenzo

“…Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life‐threatening hypermetabolic reaction when a susceptible…”
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Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility by Monnier, Nicole, Kozak-Ribbens, Geneviève, Krivosic-Horber, Renée, Nivoche, Yves, Qi, Dong, Kraev, Natasha, Loke, Julian, Sharma, Parveen, Tegazzin, Vincenzo, Figarella-Branger, Dominique, Roméro, Norma, Mezin, Paulette, Bendahan, David, Payen, Jean-François, Depret, Thierry, Maclennan, David H., Lunardi, Joël

“…Malignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in…”
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Undiagnosed myopathy before surgery and safe anaesthesia table by Trevisan, Carlo P, Accorsi, Alma, Morandi, Lucia O, Mongini, Tiziana, Savoia, Gennaro, Gravino, Elvira, Angelini, Corrado, Tegazzin, Vincenzo

“…Patients with muscle pathology are a challenge for anaesthesiologists because of possible life-threatening general anaesthesia complications. A review of the…”
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Frequency and localization of mutations in the 106 exons of theRYR1 gene in 50 individuals with malignant hyperthermia by Galli, Lucia, Orrico, Alfredo, Lorenzini, Stefania, Censini, Stefano, Falciani, Michela, Covacci, Antonello, Tegazzin, Vincenzo, Sorrentino, Vincenzo

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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres by Rossi, Daniela, De Smet, Patrick, Lyfenko, Alla, Galli, Lucia, Lorenzini, Stefania, Franci, Daniela, Petrioli, Francesco, Orrico, Alfredo, Angelini, Corrado, Tegazzin, Vincenzo, Dirksen, Robert, Sorrentino, Vincenzo

“…A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14 510 in the human RyR1 mRNA (c14510delA), was…”
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Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families by Barone, Virginia, Massa, Ornella, Intravaia, Elena, Bracco, Adele, Di Martino, Antonella, Tegazzin, Vincenzo, Cozzolino, Santolo, Sorrentino, Vincenzo

“…Point mutations in the ryanodine receptor (RYR1) gene are associated with malignant hyperthermia, an autosomal dominant disorder triggered in susceptible…”
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Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility by Monnier, Nicole, Kozak-Ribbens, Geneviève, Krivosic-Horber, Renée, Nivoche, Yves, Qi, Dong, Kraev, Natasha, Loke, Julian, Sharma, Parveen, Tegazzin, Vincenzo, Figarella-Branger, Dominique, Roméro, Norma, Mezin, Paulette, Bendahan, David, Payen, Jean-François, Depret, Thierry, Maclennan, David, Lunardi, Joël

“…Malignant hyperthermia susceptibility (MHS) is a subclinical pharmacogenetic disorder caused by an impairment of skeletal muscle calcium homeostasis in…”
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Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia by Manning, Bernadette M., Quane, Kathleen A., Lynch, Patrick J., Urwyler, Albert, Tegazzin, Vincenzo, Krivosic-Horber, Renee, Censier, Kathrin, Comi, Giacomo, Adnet, Pascal, Wolz, Werner, Lunardi, Joel, Muller, Clemens R., McCarthy, Tommie V.

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Chlorocresol, an Additive to Commercial Succinylcholine, Induces Contracture of Human Malignant Hyperthermia-susceptible Muscles Via Activation of the Ryanodine Receptor Calcium sup 2+ Channel by Tegazzin, Vincenzo, Scutari, Erica, Treves, Susan, Zorzato, Francesco

“…Background A defect in the ryanodine (Ry1) receptor Ca2+ channel has been implicated as one of the possible underlying causes of malignant hyperthermia (MH), a…”
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Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility by MORONI, I, GONANO, E. F, COMI, G. P, TEGAZZIN, V, PRELLE, A, BORDONI, A, BRESOLIN, N, SCARLATO, G

“…Malignant hyperthermia (MH) is a rare clinical syndrome, triggered in susceptible subjects by a variety of anaesthetic agents and muscle relaxants, and is the…”
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Caffeine sensitivity of sarcoplasmic reticulum of fast and slow fibers from normal and malignant hyperthermia human muscle by Salviati, G, Betto, R, Ceoldo, S, Tegazzin, V, Della Puppa, A

“…We have carried out a comparative study of caffeine sensitivity of the sarcoplasmic reticulum (SR) of fast and slow normal human fibers chemically skinned…”
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Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment by Bresolin, N, Freddo, L, Tegazzin, V, Bet, L, Armani, M, Angelini, C

“…Carnitine level and carnitine palmityl transferase (CPT) activity were investigated in muscles of patients with infantile and juvenile spinal muscular atrophy…”
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Vagal stimulation and exogenous acetylcholine in isolated rat stomach: calcitonin effect on contractile activity by Aragno, R, Bettini, V, Ceccherelli, F, Lo Castro, G, Tegazzin, V

“…Calcitonin induces contraction in the vascular and extravascular smooth muscle and facilitates the transmission of the excitation in somatic motor nerve…”
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