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A. Carsana · SciRah

Researcher profile · Semantic Scholar

A. Carsana

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A. Carsana — researcher profile on SciRah

h-index: 16
Works: 39
Citations: 869

Most-cited papers

Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?
R. Robinson, M. Anetseder, Virginia Brancadoro, C. van Broekhoven +17 more
2003European Journal of Human Genetics101 citations
Semantic Scholar
Molecular evolution of pancreatic-type ribonucleases.
J. J. Beintema, Walter M. Fitch, A. Carsana
1986Molecular biology and evolution86 citations Open access
Semantic Scholar
Several interacting genes influence the malignant hyperthermia phenotype
R. Robinson, P. Hopkins, A. Carsana, H. Gilly +6 more
2003Human Genetics71 citations
Semantic Scholar
Evolution of Vertebrate Ribonucleases: Ribonuclease A Superfamily
J. Beintema, H. J. Breukelman, A. Carsana, Adriana Furiat
199757 citations
Semantic Scholar
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.
A. Pirone, Johann Schredelseker, P. Tuluc, E. Gravino +5 more
2010American Journal of Physiology - Cell Physiology56 citations Open access
Semantic Scholar
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity.
A. Carsana, G. Frisso, Maria Roberta Tremolaterra, R. Lanzillo +3 more
2005Annals of Human Genetics47 citations
Semantic Scholar
Molecular cloning of the gene encoding the bovine brain ribonuclease and its expression in different regions of the brain.
M. P. Sasso, A. Carsana, E. Confalone, C. Cosi +5 more
1991Nucleic Acids Research41 citations Open access
Semantic Scholar
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B‐lymphocytes
Alberto Zullo, W. Klingler, Claudia De Sarno, Marina Ferrara +8 more
2009Human Mutation40 citations Open access
Semantic Scholar
Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations
A. Carsana
2013TheScientificWorldJournal39 citations Open access
Semantic Scholar
Analysis of Dystrophin Gene Deletions Indicates that the Hinge III Region of the Protein Correlates with Disease Severity
A. Carsana, G. Frisso, Maria Roberta Tremolaterra, R. Lanzillo +3 more
200535 citations
Semantic Scholar
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies
G. Esposito, A. Carsana
2019Journal of Clinical Medicine25 citations Open access
Semantic Scholar
Nuclear Factor k B (NF‐k B), Nuclear Factor Interleukin‐6 (NFIL‐6 or C/EBPβ) and Nuclear Factor Interleukin‐6β (NFIL6‐β or C/EBPδ) are Not Sufficient to Activate the Endogenous Interleukin‐6 Gene in the Human Breast Carcinoma Cell Line MCF‐7
L. Faggioli, C. Costanzo, M. Merola, E. Bianchini +3 more
199624 citations Open access
Semantic Scholar
A larger spectrum of intragenic short tandem repeats improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from southern Italy.
A. Carsana, G. Frisso, Maria Roberta Tremolaterra, E. Ricci +2 more
2007Journal of Molecular Diagnostics21 citations Open access
Semantic Scholar
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene
G. Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, I. Tandurella +3 more
2017Journal of Human Genetics20 citations
Semantic Scholar
Pancreatic-Type Ribonuclease 1 Gene Duplications in Rat Species
J. Dubois, P. Jekel, Patty Mulder, Anton P. Bussink +3 more
2002Journal of Molecular Evolution20 citations
Semantic Scholar
A case of discordance between genotype and phenotype in a malignant hyperthermia family
G. Fortunato, A. Carsana, N. Tinto, V. Brancadoro +2 more
1999European Journal of Human Genetics18 citations Open access
Semantic Scholar
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy
G. Esposito, Raffaella Ruggiero, M. Savarese, Giovanni Savarese +3 more
2013Clinical Chemistry and Laboratory Medicine16 citations
Semantic Scholar
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy.
G. Frisso, A. Carsana, N. Tinto, G. Calcagno +2 more
2004Clinical Chemistry16 citations
Semantic Scholar
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family
G. Fortunato, Renata Berruti, V. Brancadoro, M. Fattore +2 more
2000European Journal of Human Genetics16 citations
Semantic Scholar
Lithostathine messenger RNA expression in different types of chronic pancreatitis
G. Cavallini, P. Bovo, E. Bianchini, A. Carsana +7 more
1998Molecular and Cellular Biochemistry16 citations
Semantic Scholar
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families
Alberto Zullo, Giuseppa Perrotta, Rossana D'Angelo, L. Ruggiero +5 more
2019BioMed Research International15 citations Open access
Semantic Scholar
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
A. Carsana, G. Frisso, M. Intrieri, Maria Roberta Tremolaterra +5 more
201015 citations Open access
Semantic Scholar
Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals
K. Hoppe, Guido Hack, F. Lehmann-Horn, K. Jurkat-Rott +4 more
2016Scientific Reports12 citations Open access
Semantic Scholar
Sequences related to the ox pancreatic ribonuclease coding region in the genomic DNA of mammalian species
H. J. Breukelman, J. Beintema, E. Confalone, C. Costanzo +4 more
1993Journal of Molecular Evolution10 citations
Semantic Scholar
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.
G. Esposito, Raffaella Ruggiero, Giovanni Savarese, M. Savarese +3 more
2013Clinica chimica acta; international journal of clinical chemistry9 citations
Semantic Scholar
Identification of New Polymorphisms in the CACNA1S Gene
A. Carsana, G. Fortunato, Claudia De Sarno, V. Brancadoro +1 more
2003Clinical Chemistry and Laboratory Medicine8 citations
Semantic Scholar
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.
G. Esposito, Maria Roberta Tremolaterra, M. Savarese, Michele Spiniello +5 more
2018Clinica chimica acta; international journal of clinical chemistry7 citations Open access
Semantic Scholar
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavα1S-subunit
A. Pirone, Johann Schredelseker, P. Tuluc, E. Gravino +5 more
20107 citations
Semantic Scholar
Identification and functional characterization of malignant hyperthermia mutation T 1354 S in the outer pore of the Cav 1 S-subunit
A. Pirone, Johann Schredelseker, P. Tuluc, E. Gravino +5 more
20106 citations
Semantic Scholar
Molecular analysis of Duchenne/Becker muscular dystrophy
A. Carsana, G. Frisso, M. Intrieri, Maria Roberta Tremolaterra +5 more
2010Frontiers in Bioscience5 citations Open access
Semantic Scholar
RYR1-Related Myopathies and Anesthesiological Implications
A. Carsana
20144 citations
Semantic Scholar
Influence of protein net charge on the nucleic acid helix-destabilizing activity of various pancreatic ribonucleases
A. Carsana, A. Furia, M. Libonati
2004Molecular and Cellular Biochemistry4 citations
Semantic Scholar
Influence of physical activity on structure and function of the RyR1 calcium channel: a systematic review
Alberto Zullo, G. Frisso, A. Carsana
20201 citations
Semantic Scholar
Forthcoming papers
H. J. Breukelman, J. Beintema, E. Confalone, C. Costanzo +4 more
2004Journal of Molecular Evolution0 citations
Semantic Scholar
Molecular cloning ofthegeneencoding thebovine brain ribonuclease andits expression indifferent regions ofthe brain
M. P. Sasso, A. Carsana, E. Confalone, C. Cosi +3 more
19910 citations
Semantic Scholar
Methylation pattern analysis of c-Ha-ras oncogene in human prostatic cancer
M. Menegazzi, A. Scarpa, A. Carsana, M. Libonati
19870 citations
Semantic Scholar
Proteins with preferential affinity for single-stranded DNA in tissues of Octopus vulgaris lam.
A. Carsana, M. Lavitrano, M. Libonati
1984Italian Journal of Biochemistry0 citations
Semantic Scholar
[Ribonuclease of buffalo seminal vesicles].
B. Farina, A. Carsana, P. Quesada, R. de Prisco +1 more
1973Bollettino della Societa italiana di biologia sperimentale0 citations
Semantic Scholar
[Ribonuclease of bull seminal vesicles (SV-1 RNase)].
B. Farina, P. Quesada, A. Carsana, A. Parente +2 more
1973Bollettino della Societa italiana di biologia sperimentale0 citations
Semantic Scholar

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