Search Results - "Gallus, G."

Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid by Ginanneschi, F., Mignarri, A., Mondelli, M., Gallus, G. N., Del Puppo, M., Giorgi, S., Federico, A., Rossi, A., Dotti, M. T.

“…Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes…”
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Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene by Gallus, G N, Dotti, M T, Federico, A

“…Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase. In…”
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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families by Pretegiani, E., Rosini, F., Rufa, A., Gallus, G.N., Cardaioli, E., Da Pozzo, P., Bianchi, S., Serchi, V., Collura, M., Franceschini, R., Bianchi Marzoli, S., Dotti, M.T., Federico, A.

“…Mutations in OPA1 are responsible of 32–89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA1 ADOA usually presents in childhood with bilateral,…”
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Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis by Mignarri, A., Rossi, S., Ballerini, M., Gallus, G. N., Del Puppo, M., Galluzzi, P., Federico, A., Dotti, M. T.

“…Cerebrotendinous xanthomatosis (CTX) is a rare neurometabolic disease due to defective activity of sterol 27-hydroxylase, with plasma and tissue cholestanol…”
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High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy by Gallus, GN, Cardaioli, E, Rufa, A, Collura, M, Da Pozzo, P, Pretegiani, E, Tumino, M, Pavone, L, Federico, A

“…Gallus GN, Cardaioli E, Rufa A, Collura M, Da Pozzo P, Pretegiani E, Tumino M, Pavone L, Federico A. High frequency of OPA1 mutations causing high ADOA…”
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Four novel CYP27A1 mutations in seven Italian patients with CTX by Gallus, G. N., Dotti, M. T., Mignarri, A., Rufa, A., Da Pozzo, P., Cardaioli, E., Federico, A.

“…Background and purpose:  Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease, because of sterol 27‐hydroxylase deficiency. Clinical…”
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THE FIRST CEREBROTENDINOUS XANTHOMATOSIS FAMILY FROM ARGENTINA : A NEW MUTATION IN CYP27A1 GENE by SZLAGO, M, GALLUS, G. N, SCHENONE, A, PATINO, M. E, SFAELO, Z, RUFA, A, DA POZZO, P, CARDAIOLI, E, DOTTI, M. T, FEDERICO, A

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Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA by Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A

“…We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative…”
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Monitoring surgical and medical outcomes: the Bernoulli cumulative SUM chart. A novel application to assess clinical interventions by Leandro, G, Rolando, N, Gallus, G, Rolles, K, Burroughs, A K

“…Background: Monitoring clinical interventions is an increasing requirement in current clinical practice. The standard CUSUM (cumulative sum) charts are used…”
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Glucose tolerance and cardiovascular mortality: comparison of fasting and 2-hour diagnostic criteria

“…New diagnostic criteria for diabetes based on fasting blood glucose (FBG) level were approved by the American Diabetes Association. The impact of using FBG…”
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Low prevalence of islet autoimmunity in adult diabetes and low predictive value of islet autoantibodies in the general adult population of northern Italy by BOSI, E, GARANCINI, M. P, POGGIALI, F, BONIFACIO, E, GALLUS, G

“…To assess the prevalence of islet autoimmunity in adult-onset diabetes mellitus and the predictive value of islet autoantibodies in the general adult…”
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A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy by Cardaioli, Elena, Gallus, Gian Nicola, Da Pozzo, Paola, Rufa, Alessandra, Franceschini, Rossella, Motolese, Eduardo, Caporossi, Aldo, Dotti, Maria T, Federico, Antonio

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Neoadjuvant combined microwave induced local hyperthermia and topical chemotherapy versus chemotherapy alone for superficial bladder cancer by Colombo, R, Da Pozzo, L F, Lev, A, Freschi, M, Gallus, G, Rigatti, P

“…We evaluated the effectiveness of local bladder hyperthermia and intravesical chemotherapy compared to intravesical chemotherapy alone in the treatment of…”
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Insulin-dependent diabetes mellitus in Sardinian-heritage children living in Lombardy by Calori, G, Gallus, G, Bognetti, E, Chiumello, G

“…Calori et al studied the contributions of genetic and environmental factors to insulin-dependent diabetes mellitus (IDDM) susceptibility in Sardinian-heritage…”
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Prevalence of NIDDM and impaired glucose tolerance in Italy : an OGTT-based population study by GARANCINI, M. P, CALORI, G, RUOTOLO, G, MANARA, E, IZZO, A, EBBLI, E, BOZZETTI, A. M, BOARI, L, LAZZARI, P, GALLUS, G

“…To provide complete prevalence data on diabetes mellitus in Italy (diagnosed and undiagnosed), a population survey was performed in the Health District of…”
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Familial Alzheimer's disease associated with heterozygous NPC1 mutation by Lopergolo, Diego, Bianchi, Silvia, Gallus, Gian Nicola, Locci, Sara, Pucci, Barbara, Leoni, Valerio, Gasparini, Daniele, Tardelli, Elisa, Chincarini, Andrea, Sestini, Stelvio, Santorelli, Filippo Maria, Zetterberg, Henrik, De Stefano, Nicola, Mignarri, Andrea

“…mutations are responsible for Niemann-Pick disease type C (NPC), a rare autosomal recessive neurodegenerative disease. Patients harbouring heterozygous…”
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Questioning the utility of pooling samples in microarray experiments with cell lines by LUSA, L, CAPPELLETTI, V, PIEROTTI, M. A, GARIBOLDI, M, FERRARIO, C, DE CECCO, L, REID, J. F, TOFFANIN, S, GALLUS, G, MCSHANE, L. M, DAIDONE, M. G

“…We describe a microarray experiment using the MCF-7 breast cancer cell line in two different experimental conditions for which the same number of independent…”
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Mortality, morbidity, and quality of life after circumferential pulmonary vein ablation for atrial fibrillation: outcomes from a controlled nonrandomized long-term study by Pappone, Carlo, Rosanio, Salvatore, Augello, Giuseppe, Gallus, Giuseppe, Vicedomini, Gabriele, Mazzone, Patrizio, Gulletta, Simone, Gugliotta, Filippo, Pappone, Alessia, Santinelli, Vincenzo, Tortoriello, Valter, Sala, Simone, Zangrillo, Alberto, Crescenzi, Giuseppe, Benussi, Stefano, Alfieri, Ottavio

“…This study was designed to investigate the potential of circumferential pulmonary vein (PV) ablation for atrial fibrillation (AF) to maintain sinus rhythm (SR)…”
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Age-specific incidence and duration of known diabetes. The Cremona Study by GARANCINI, M. P, GOBBI, C, ERRERA, A, SERGI, A, GALLUS, G

“…Age-specific incidence and duration of known diabetes. The Cremona Study. M P Garancini , C Gobbi , A Errera , A Sergi and G Gallus Medical Statistics and…”
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Factors related to glycemic control in IDDM and insulin-treated NIDDM patients in current practice. A comparison of care policies. SIEMTIC Group. Studio Italiano Epidemiologico Multicentrico su Terapia Insulin e Controllo Metabolico by Garancini, M P, Gallus, G, Cucinotta, D, Rossi, A, Riccardi, G

“…Factors related to glycemic control in IDDM and insulin-treated NIDDM patients in current practice. A comparison of care policies. SIEMTIC Group. Studio…”
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