Search Results - "FABRIZI, G" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

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
Published in Orphanet journal of rare diseases (14.12.2020)

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Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area

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.
Published in Journal of neurology (01.05.2016)

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Nerve conduction velocity in CMT1A: what else can we tell?

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.
Published in European journal of neurology (01.10.2016)

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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study

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
Published in European journal of neurology (01.02.2020)

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

by Zimoń, M, Baets, J, Fabrizi, G M, Jaakkola, E, Kabzińska, D, Pilch, J, Schindler, A B, Cornblath, D R, Fischbeck, K H, Auer-Grumbach, M, Guelly, C, Huber, N, De Vriendt, E, Timmerman, V, Suter, U, Hausmanowa-Petrusewicz, I, Niemann, A, Kochański, A, De Jonghe, P, Jordanova, A
Published in Neurology (09.08.2011)

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Suzuki-Miyaura cross-coupling catalyzed by protein-stabilized palladium nanoparticles under aerobic conditions in water: application to a one-pot chemoenzymatic enantioselective synthesis of chiral biaryl alcohols

Suzuki-Miyaura cross-coupling catalyzed by protein-stabilized palladium nanoparticles under aerobic conditions in water: application to a one-pot chemoenzymatic enantioselective synthesis of chiral biaryl alcohols

by Prastaro, A., Ceci, P., Chiancone, E., Boffi, A., Cirilli, R., Colone, M., Fabrizi, G., Stringaro, A., Cacchi, S.
Published in Green chemistry : an international journal and green chemistry resource : GC (01.01.2009)

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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

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.
Published in Journal of neurology (01.08.2020)

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E

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
Published in Neurology (27.04.2004)

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Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

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
Published in Neurology (17.07.2007)

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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

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.
Published in Skin pharmacology and physiology (01.01.2007)

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Fusidic acid betamethasone lipid cream

Fusidic acid betamethasone lipid cream

by Girolomoni, G., Mattina, R., Manfredini, S., Vertuani, S., Fabrizi, G.
Published in International journal of clinical practice (Esher) (01.05.2016)

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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

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.
Published in European journal of neurology (01.12.2015)

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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

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.
Published in European journal of neurology (01.08.2016)

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Four novel cases of periaxin-related neuropathy and review of the literature

Four novel cases of periaxin-related neuropathy and review of the literature

by Marchesi, C, Milani, M, Morbin, M, Cesani, M, Lauria, G, Scaioli, V, Piccolo, G, Fabrizi, G M, Cavallaro, T, Taroni, F, Pareyson, D
Published in Neurology (16.11.2010)

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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

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
Published in Nature genetics (01.07.2001)

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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)

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
Published in Journal of the neurological sciences (15.08.2012)

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A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

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
Published in Journal of the neurological sciences (15.11.2010)

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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H

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
Published in Neurology (31.03.2009)

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An under‐recognized, life‐threatening complication of atopic dermatitis

An under‐recognized, life‐threatening complication of atopic dermatitis

by Pagliarello, C., Scrivani, S., Fabrizi, G., Feliciani, C., Di Nuzzo, S.
Published in Clinical and experimental dermatology (01.10.2017)

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Not a simple plantar wart: a case of tungiasis

Not a simple plantar wart: a case of tungiasis

by Peccerillo, F., Zambito Spadaro, F., Fabrizi, G., Feliciani, C., Pagliarello, C., Stanganelli, I.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2018)

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