Search Results - "Fabrizi, G."

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus by Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P

“…Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of…”
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Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area by Cortese, A., Vita, G., Luigetti, M., Russo, M., Bisogni, G., Sabatelli, M., Manganelli, F., Santoro, L., Cavallaro, T., Fabrizi, G. M., Schenone, A., Grandis, M., Gemelli, C., Mauro, A., Pradotto, L. G., Gentile, L., Stancanelli, C., Lozza, A., Perlini, S., Piscosquito, G., Calabrese, D., Mazzeo, A., Obici, L., Pareyson, D.

“…Tafamidis is a transthyretin (TTR) stabilizer able to prevent TTR tetramer dissociation. There have been a few encouraging studies on Tafamidis efficacy in…”
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Nerve conduction velocity in CMT1A: what else can we tell? by Manganelli, F., Pisciotta, C., Reilly, M. M., Tozza, S., Schenone, A., Fabrizi, G. M., Cavallaro, T., Vita, G., Padua, L., Gemignani, F., Laurà, M., Hughes, R. A. C., Solari, A., Pareyson, D., Santoro, L.

“…Background and purpose Charcot‐Marie‐Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant…”
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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study by Mori, L., Signori, A., Prada, V., Pareyson, D., Piscosquito, G., Padua, L., Pazzaglia, C., Fabrizi, G. M., Picelli, A., Schenone, A., Grandis, Marina, Maggi, Giovanni, Zuccariono, Riccardo, Marinelli, Lucio, Trompetto, Carlo, Scorsone, Deborah, Montesano, Angelo, Cattaneo, Davide, Casati, Eleonora, Smania, Nicola, Brugnera, Annalisa, Fontana, Carla, Munari, Daniele

“…Background and purpose Muscle‐strengthening, stretching or proprioceptive treatments may slow symptom progression in Charcot—Marie–Tooth (CMT) neuropathy. The…”
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes by ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

“…Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT)…”
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Sustained response to subcutaneous immunoglobulins in chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA): report of two cases and review of the literature by Marastoni, D., Africa, L., Peretti, A., Bocci, S., Insana, L., Ferrari, S., Ginanneschi, F., Zanette, G., Fabrizi, G. M., Giannini, F.

“…Introduction Chronic ataxic neuropathy with anti-disialosyl IgM antibodies (CANDA) is a rare disorder for which the pathological, neurophysiological, and…”
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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E by FABRIZI, G. M, CAVALLARO, T, ANGIARI, C, BERTOLASI, L, CABRINI, I, FERRARINI, M, RIZZUTO, N

“…The axonal type 2 Charcot-Marie-Tooth disease (CMT2) is phenotypically poorly characterized. Here the authors report a family with a Pro22Ser mutation in the…”
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Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease by FABRIZI, G. M, FERRARINI, M, CAVALLARO, T, CABRINI, I, CERINI, R, BERTOLASI, L, RIZZUTO, N

“…Recently, mutations affecting different domains of dynamin-2 (DNM2) were associated alternatively with autosomal dominant centronuclear myopathy or dominant…”
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Beneficial long-term effects of combined oral/topical antioxidant treatment with the carotenoids lutein and zeaxanthin on human skin: a double-blind, placebo-controlled study by Palombo, P, Fabrizi, G, Ruocco, V, Ruocco, E, Fluhr, J, Roberts, R, Morganti, P

“…The skin is exposed to numerous environmental assaults that can lead to premature aging. Of these agents, perhaps none is more ubiquitous than the ultraviolet…”
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Fusidic acid betamethasone lipid cream by Girolomoni, G, Mattina, R, Manfredini, S, Vertuani, S, Fabrizi, G

“…Bacterial infections of the skin and soft tissues are frequent disorders. They can be primitive infections (e.g. impetigo, folliculitis) or secondary…”
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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease by Piscosquito, G., Reilly, M. M., Schenone, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Vita, G., Quattrone, A., Padua, L., Gemignani, F., Visioli, F., Laurà, M., Calabrese, D., Hughes, R. A. C., Radice, D., Solari, A., Pareyson, D.

“…Background and purpose Charcot−Marie−Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over…”
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Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch™ Activity Monitor and identification of the walking features related to higher quality of life by Padua, L., Pazzaglia, C., Pareyson, D., Schenone, A., Aiello, A., Fabrizi, G. M., Cavallaro, T., Santoro, L., Manganelli, F., Gemignani, F., Vitetta, F., Quattrone, A., Mazzeo, A., Russo, M., Vita, G.

“…Background and purpose Charcot−Marie−Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom…”
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Four novel cases of periaxin-related neuropathy and review of the literature by MARCHESI, C, MILANI, M, PAREYSON, D, MORBIN, M, CESANI, M, LAURIA, G, SCAIOLI, V, PICCOLO, G, FABRIZI, G. M, CAVALLARO, T, TARONI, F

“…To report 4 cases of autosomal recessive hereditary neuropathy associated with novel mutations in the periaxin gene (PRX) with a review of the literature…”
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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria by Spelbrink, Johannes N, Li, Fang-Yuan, Tiranti, Valeria, Nikali, Kaisu, Yuan, Qiu-Ping, Tariq, Muhammed, Wanrooij, Sjoerd, Garrido, Nuria, Comi, Giacomo, Morandi, Lucia, Santoro, Lucio, Toscano, Antonio, Fabrizi, Gian-Maria, Somer, Hannu, Croxen, Rebecca, Beeson, David, Poulton, Joanna, Suomalainen, Anu, Jacobs, Howard T, Zeviani, Massimo, Larsson, Catharina

“…The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report here a novel mitochondrial…”
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Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by Testi, S, Malerba, G, Ferrarini, M, Ragno, M, Pradotto, L, Mauro, A, Fabrizi, G.M

“…Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common form of familial vascular…”
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A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype by Luigetti, M, Fabrizi, G.M, Madia, F, Ferrarini, M, Conte, A, Del Grande, A, Tasca, G, Tonali, P.A, Sabatelli, M

“…Abstract Mutations in the gene encoding 27-kDa small heat-shock protein B1 ( HSPB1 ) have been reported in association with Charcot-Marie-Tooth disease type 2F…”
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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H by FABRIZI, G. M, TAIOLI, F, CAVALLARO, T, FERRARI, S, BERTOLASI, L, CASAROTTO, M, RIZZUTO, N, DECONINCK, T, TIMMERMAN, V, DE JONGHE, P

“…Autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4H (CMT4H) manifests early onset, severe functional impairment, deforming scoliosis, and…”
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An under‐recognized, life‐threatening complication of atopic dermatitis by Pagliarello, C., Scrivani, S., Fabrizi, G., Feliciani, C., Di Nuzzo, S.

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Not a simple plantar wart: a case of tungiasis by Peccerillo, F., Zambito Spadaro, F., Fabrizi, G., Feliciani, C., Pagliarello, C., Stanganelli, I.

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Intussusception in childhood: role of sonography on diagnosis and treatment by Bartocci, M., Fabrizi, G., Valente, I., Manzoni, C., Speca, S., Bonomo, L.

“…Objective The aim of this study was to determine the role of ultrasound in the diagnosis and treatment of pediatric patients with acute abdominal pain caused…”
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