Search Results - "De Fusco, M."

A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 by GAMBARDELLA, A, ANNESI, G, ZAPPIA, M, BALLABIO, A, CASARI, G, QUATTRONE, A, DE FUSCO, M, PATRIGNANI, A, AGUGLIA, U, ANNESI, F, PASQUA, A. A, SPADAFORA, P, OLIVERI, R. L, VALENTINE, P

“…Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is caused by mutations in the alpha4 subunit of the neuronal nicotinic acetylcholine receptor…”
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Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette by Capitano, S., del Pozo, A. C., Bartolotta, V., De Fusco, M., Chiodi, L., Boccoli, G.

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Clinical pharmacology of chronic oral etoposide in patients with small cell and non-small cell lung cancer by ZUCCHETTI, M, PAGANI, O, CAVALLI, F, TORRI, V, SESSA, C, D'INCALCI, M, DE FUSCO, M, DE JONG, J, GENTILI, D, MARTINELLI, G, TINAZZI, A

“…We aimed to evaluate the pharmacokinetics and pharmacodynamics of etoposide given chronically by the p.o. route to patients with small cell and non-small cell…”
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Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation by Aridon, P, Ragonese, P, De Fusco, M, Lo Coco, D, Salemi, G, Casari, G, Savettieri, G

“…We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at…”
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Clinical and pharmacokinetic study of oral NK611, a new podophyllotoxin derivative by PAGANI, O, ZUCCHETTI, M, SESSA, C, DE JONG, J, D'INCALCI, M, DE FUSCO, M, KAESER-FRÖHLICH, A, HANAUSKE, A, CAVALLI, F

“…NK611 is a novel water-soluble podophyllotoxin derivative that has comparable antitumour activity but higher potency and better bioavailability in animals as…”
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Phase I clinical and pharmacokinetic study of oral etoposide phosphate by Sessa, C, Zucchetti, M, Cerny, T, Pagani, O, Cavalli, F, De Fusco, M, De Jong, J, Gentili, D, McDaniel, C, Prins, C

“…To determine the bioavailability (F) and the pharmacokinetic profile of both etoposide and its prodrug, etoposide phosphate, after oral and intravenous…”
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Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome by MASTROIANNI, N, BETTINELLI, A, BIANCHETTI, M, COLUSSI, G, DE FUSCO, M, SERENI, F, BALLABIO, A, CASARI, G

“…A hereditary defect of the distal tubule accounts for the clinical features of Gitelman syndrome (GS), an autosomal recessive disease characterized by…”
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Molecular Cloning, Expression Pattern, and Chromosomal Localization of the Human Na–Cl Thiazide-Sensitive Cotransporter (SLC12A3) by Mastroianni, Nadia, Fusco, Maurizio De, Zollo, Massimo, Arrigo, Giulia, Zuffardi, Orsetta, Bettinelli, Alberto, Ballabio, Andrea, Casari, Giorgio

“…Electrolyte homeostasis is maintained by several ion transport systems. Na–(K)–Cl cotransporters promote the electrically silent movement of chloride across…”
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The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy by De Fusco, M, Becchetti, A, Patrignani, A, Annesi, G, Gambardella, A, Quattrone, A, Ballabio, A, Wanke, E, Casari, G

“…Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe…”
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Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 by Pirulli, D, Puzzer, D, De Fusco, M, Crovella, S, Amoroso, A, Scolari, F, Viola, B F, Maiorca, R, Caridi, G, Savoldi, S, Ghiggeri, G, Casari, G

“…The location of a second genetic locus for autosomal dominant medullary cystic kidney disease (ADMCKD) at chromosome 16p12 led us to further investigate the…”
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Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear by Aridon, Paolo, Marini, Carla, Di Resta, Chiara, Brilli, Elisa, De Fusco, Maurizio, Politi, Fausta, Parrini, Elena, Manfredi, Irene, Pisano, Tiziana, Pruna, Dario, Curia, Giulia, Cianchetti, Carlo, Pasqualetti, Massimo, Becchetti, Andrea, Guerrini, Renzo, Casari, Giorgio

“…Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and…”
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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease by Casari, Giorgio, De Fusco, Maurizio, Ciarmatori, Sonia, Zeviani, Massimo, Mora, Marina, Fernandez, Patricio, De Michele, Giuseppe, Filla, Alessandro, Cocozza, Sergio, Marconi, Roberto, Dürr, Alexandre, Fontaine, Bertrand, Ballabio, Andrea

“…Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We…”
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Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23 by Marconi, Roberto, De Fusco, Maurizio, Aridon, Paolo, Plewnia, Katrin, Rossi, Maja, Carapelli, Sadia, Ballabio, Andrea, Morgante, Letterio, Musolino, Rosa, Epifanio, Antonio, Micieli, Giuseppe, De Michele, Giuseppe, Casari, Giorgio

“…Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two…”
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Autosomal recessive Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12-11.2 by Guerrini, Renzo, Bonanni, Paolo, Nardocci, Nardo, Parmeggiani, Lucio, Piccirilli, Massimo, De Fusco, Maurizio, Aridon, Paolo, Ballabio, Andrea, Carrozzo, Romeo, Casari, Giorgio

“…We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise‐induced dystonia (PED), and…”
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Comparative Efficacies of Quinupristin-Dalfopristin, Linezolid, Vancomycin, and Ciprofloxacin in Treatment, Using the Antibiotic-Lock Technique, of Experimental Catheter-Related Infection Due to Staphylococcus aureus by GIACOMETTI, Andrea, CIRIONI, Oscar, SCALISE, Giorgio, GHISELLI, Roberto, ORLANDO, Fiorenza, MOCCHEGIANI, Federico, SILVESTRI, Carmela, LICCI, Alberto, DE FUSCO, Matteo, PROVINCIALI, Mauro, SABA, Vittorio

“…Classifications Services AAC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 by De Michele, Giuseppe, De Fusco, Maurizio, Cavalcanti, Francesca, Filla, Alessandro, Marconi, Roberto, Volpe, Giampiero, Monticelli, Antonella, Ballabio, Andrea, Casari, Giorgio, Cocozza, Sergio

“…Hereditary spastic paraplegia is a genetically and phenotypically heterogeneous disorder. Both pure and complicated forms have been described, with autosomal…”
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Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12 by Scolari, Francesco, Puzzer, Daniela, Amoroso, Antonio, Caridi, Gianluca, Ghiggeri, Gian Marco, Maiorca, Rosario, Aridon, Paolo, De Fusco, Maurizio, Ballabio, Andrea, Casari, Giorgio

“…Autosomal dominant medullary cystic disease (ADMCKD) is an interstitial nephropathy that has morphologic and clinical features similar to autosomal recessive…”
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A recessive variant of the Romano-Ward long-QT syndrome? by PRIORI, S. G, SCHWARTZ, P. J, NAPOLITANO, C, BIANCHI, L, DENNIS, A, DE FUSCO, M, BROWN, A. M, CASARI, G

“…The congenital long-QT syndrome (LQTS) is a genetically heterogeneous disease characterized by prolonged ventricular repolarization and life-threatening…”
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Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry by Cetica, Valentina, PhD, Sieni, Elena, MD, Pende, Daniela, PhD, Danesino, Cesare, MD, De Fusco, Carmen, MD, Locatelli, Franco, MD, Micalizzi, Concetta, MD, Putti, Maria Caterina, MD, Biondi, Andrea, MD, Fagioli, Franca, MD, Moretta, Lorenzo, MD, Griffiths, Gillian M., PhD, Luzzatto, Lucio, MD, Aricò, Maurizio, MD

“…Background Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease affecting mostly children but also adults and characterized by…”
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Integrated imaging of systemic Langerhans cell histiocytosis in an infant by Cariello, Valentina, Lombardo, Patrizia, Castelli, Luisa, Brillantino, Carmela, De Fusco, Carmela, Rossi, Antonio, Minelli, Rocco, Paviglianiti, Giuseppe, Grassi, Roberto, Rossi, Eugenio

“…Langerhans cell histiocytosis (LCH) is a myeloid neoplasm characterized by a clonal proliferation of CD1a+/CD207+ dendritic cells. Although individuals of any…”
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