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

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

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

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

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Oral glucose tolerance test unravels circulating miRNAs associated with insulin resistance in obese preschoolers von Masotti, A., Baldassarre, A., Fabrizi, M., Olivero, G., Loreti, M. C., Giammaria, P., Veronelli, P., Graziani, M. P., Manco, M.

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes von 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

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Four novel cases of periaxin-related neuropathy and review of the literature von MARCHESI, C, MILANI, M, PAREYSON, D, MORBIN, M, CESANI, M, LAURIA, G, SCAIOLI, V, PICCOLO, G, FABRIZI, G. M, CAVALLARO, T, TARONI, F

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E von FABRIZI, G. M, CAVALLARO, T, ANGIARI, C, BERTOLASI, L, CABRINI, I, FERRARINI, M, RIZZUTO, N

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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 von 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

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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) von Testi, S, Malerba, G, Ferrarini, M, Ragno, M, Pradotto, L, Mauro, A, Fabrizi, G.M

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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... von 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.

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Exploring the Role of Antibiotics in Hospice Care von Ghidini, G, Fabrizi, M, Froldi, M, Moroni Grandini, R E, Proietti, M, Cesari, M

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A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype von Luigetti, M, Fabrizi, G.M, Madia, F, Ferrarini, M, Conte, A, Del Grande, A, Tasca, G, Tonali, P.A, Sabatelli, M

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TECNOMUSE: a novel, RPC-based, muon tomography scanner for the control of container terminals von Preziosi, E, Arcieri, F, Caltabiano, A, Camarri, P, Casagrande, S, Cavicchioni, D, Danza, F A, Fabrizi, E, Fabrizi, M, Festa, G, Fornaro, C, Marchese, F, Merella, D, Morone, M C, Picella, P, Picozza, P, Pizzimento, L, Rocchi, A, Santonico, R, Senesi, R, Sparvoli, R, Todesco, G M, Cianchi, A

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Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease von FABRIZI, G. M, FERRARINI, M, CAVALLARO, T, CABRINI, I, CERINI, R, BERTOLASI, L, RIZZUTO, N

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Neuropathic pain in Charcot–Marie‐Tooth disease: A clinical and laser‐evoked potential study von Peretti, Alessia, Squintani, Giovanna, Taioli, Federica, Tagliapietra, Matteo, Cavallaro, Tiziana, Fabrizi, Gian M.

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis von Manfredi, Michela, Malandrini, Alessandro, Rampoldi, Luca, Ferrer, Xavier, Brown, Robert, Rudolf, Gabrielle, Németh, Andrea H, Alonso, Elisa, Vance, Jeffery, Wood, Nicholas W, Carrè, Sophie, Dobson-Stone, Carol, Danek, Adrian, Monaco, Anthony P, Rubio, Justin P, Verellen, Christine, Pericak-Vance, Margaret, Chalmers, Richard M, Fabrizi, Gian M

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Immunohistochemical expression of the glucose transporters Glut-1 and Glut-3 in human malignant melanomas and benign melanocytic lesions von Parente, Paola, Coli, Antonella, Massi, Guido, Mangoni, Antonella, Fabrizi, Manuela M, Bigotti, Giulio

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Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H von FABRIZI, G. M, TAIOLI, F, CAVALLARO, T, FERRARI, S, BERTOLASI, L, CASAROTTO, M, RIZZUTO, N, DECONINCK, T, TIMMERMAN, V, DE JONGHE, P

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Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation von Luigetti, M, Fabrizi, G.M, Taioli, F, Conte, A, Del Grande, A, Sabatelli, M

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