C
Carlo Cianchetti
Researcher at University of Cagliari
Publications - 109
Citations - 3034
Carlo Cianchetti is an academic researcher from University of Cagliari. The author has contributed to research in topics: Migraine & Subacute sclerosing panencephalitis. The author has an hindex of 28, co-authored 108 publications receiving 2864 citations. Previous affiliations of Carlo Cianchetti include University of Trieste.
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Brief report - deletion of the dystrophin muscle-promoter region associated with x-linked dilated cardiomyopathy
Francesco Muntoni,Milena Cau,Antonello Ganau,R. Congiu,Giuseppina Arvedi,Anna Mateddu,Maria Giovanna Marrosu,Carlo Cianchetti,Giuseppe Realdi,Antonio Cao,Maria Antonietta Melis +10 more
TL;DR: Several forms of hereditary dilated cardiomyopathy have been identified; with the exception of those resulting from mutations of mitochondrial DNA, no pathological finding can be used to differentiate the conditions, so their distinction depends on the pattern of transmission.
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Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear
Paolo Aridon,Carla Marini,Chiara Di Resta,Elisa Brilli,Maurizio De Fusco,Fausta Politi,Elena Parrini,Irene Manfredi,Tiziana Pisano,Dario Pruna,Giulia Curia,Carlo Cianchetti,Massimo Pasqualetti,Andrea Becchetti,Renzo Guerrini,Giorgio Casari +15 more
TL;DR: In this paper, a new locus for familial sleep-related focal epilepsy on chromosome 8p12.3-8q12.4 was identified, which is associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor.
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Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene
Maria Giovanna Marrosu,S. Vaccargiu,Giovanni Marrosu,A. Vannelli,Carlo Cianchetti,Francesco Muntoni +5 more
TL;DR: In a large HMSN II Sardinian family, a missense mutation in the chromosome 1q MPZ gene was found and was present in the heterozygous state in all affected individuals, the first example of an HMSNII family showing an MPZ point mutation.
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A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.
Francesco Muntoni,L.A. Wilson,G. Marrosu,Maria Giovanna Marrosu,Carlo Cianchetti,Luisa Mestroni,Antonello Ganau,Victor Dubowitz,Caroline Sewry +8 more
TL;DR: The mutation present in these males selectively affects dystrophin expression in the heart, which may represent the first example of a mutation specifically affecting the cardiac expression of a gene, present physiologically in both the skeletal and cardiac muscles.
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Long-Term Risperidone for Pervasive Developmental Disorder: Efficacy, Tolerability, and Discontinuation
TL;DR: The data indicate that risperidone is an effective and relatively safe drug for long term treatment of behavioral disruption in autistic children and adolescents.