Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents von Dardis, Andrea, Zanin, Irene, Zampieri, Stefania, Stuani, Cristiana, Pianta, Annalisa, Romanello, Milena, Baralle, Francisco E, Bembi, Bruno, Buratti, Emanuele

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Diagnosis and treatment of the cardiovascular consequences of Fabry disease von Baig, S, Vijapurapu, R, Alharbi, F, Nordin, S, Kozor, R, Moon, J, Bembi, B, Geberhiwot, T, Steeds, R P

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Management of neuronopathic Gaucher disease: Revised recommendations von Vellodi, A, Tylki-Szymanska, A, Davies, E. H, Kolodny, E, Bembi, B, Collin-Histed, T, Mengel, E, Erikson, A, Schiffmann, R

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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years von Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M. A., Carubbi, F., Ermani, M., Mongini, T., Toscano, A.

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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study von Wraith, J.E., Guffon, N., Rohrbach, M., Hwu, W.L., Korenke, G.C., Bembi, B., Luzy, C., Giorgino, R., Sedel, F.

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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study von Pineda, M., Wraith, J.E., Mengel, E., Sedel, F., Hwu, W.-L., Rohrbach, M., Bembi, B., Walterfang, M., Korenke, G.C., Marquardt, T., Luzy, C., Giorgino, R., Patterson, M.C.

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Diagnosis of glycogenosis type II von BEMBI, B, CERINI, E, TOSCANO, A, VIANELLO, A, DANESINO, C, DONATI, M. A, GASPERINI, S, MORANDI, L, MUSUMECI, O, PARENTI, G, RAVAGLIA, S, SEIDITA, F

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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? von Tayebi, N, Walker, J, Stubblefield, B, Orvisky, E, LaMarca, M.E, Wong, K, Rosenbaum, H, Schiffmann, R, Bembi, B, Sidransky, E

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Management and treatment of glycogenosis type II von BEMBI, B, CERINI, E, TOSCANO, A, VIANELLO, A, DANESINO, C, DONATI, M. A, GASPERINI, S, MORANDI, L, MUSUMECI, O, PARENTI, G, RAVAGLIA, S, SEIDITA, F

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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II von Montalvo, A.L.E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M.G.

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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C von Dardis, A, Zampieri, S, Canterini, S, Newell, K L, Stuani, C, Murrell, J R, Ghetti, B, Fiorenza, M T, Bembi, B, Buratti, E

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Gaucher's disease with Parkinson's disease: Clinical and pathological aspects von BEMBI, B, MARSALA, S. Zambito, SIDRANSKY, E, CIANA, G, CARROZZI, M, ZORZON, M, MARTINI, C, GIOULIS, M, PITTIS, M. G, CAPUS, L

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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Concensus (GED-C) Delphi initiative (vol 49, pg 578, 2019) von Mehta, A, Kuter, DJ, Salek, SS, Belmatoug, N, Bembi, B, Bright, J, Dahl, SV, Deodato, F, Di, Rocco M, Göker-Alpan, O

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Skeletal aspects of Gaucher disease: a review von WENSTRUP, R. J, ROCA-ESPIAU, M, WEINREB, N. J, BEMBI, B

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The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement von Cox, T. M., Aerts, J. M. F. G., Andria, G., Beck, M., Belmatoug, N., Bembi, B., Chertkoff, R., Vom Dahl, S., Elstein, D., Erikson, A., Giralt, M., Heitner, R., Hollak, C., Hrebicek, M., Lewis, S., Mehta, A., Pastores, G. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.

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Substrate reduction therapy in the infantile form of Tay-Sachs disease von BEMBI, B, MARCHETTI, F, PITTIS, M. G, GUERCI, V. I, CIANA, G, ADDOBBATI, R, GRASSO, D, BARONE, R, CARIATI, R, FERNANDEZ-GUILLEN, L, BUTTERS, T

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Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence von Ralston, E., Swaim, B., Czapiga, M., Hwu, W.-L., Chien, Y.-H., Pittis, M.G., Bembi, B., Schwartz, O., Plotz, P., Raben, N.

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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype von Reunert, J., Lotz-Havla, A. S., Polo, G., Kannenberg, F., Fobker, M., Griese, M., Mengel, E., Muntau, A. C., Schnabel, P., Sommerburg, O., Borggraefe, I., Dardis, A., Burlina, A. P., Mall, M. A., Ciana, G., Bembi, B., Burlina, A. B., Marquardt, T.

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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease von Pittis, MG, Donnarumma, M, Montalvo, ALE, Dominissini, S, Kroos, M, Rosano, C, Stroppiano, M, Bianco, MG, Donati, MA, Parenti, G, D'Amico, A, Ciana, G, Di Rocco, M, Reuser, A, Bembi, B, Filocamo, M

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Early identification of type C2 Niemann–Pick disease by urinary bile acid profile determination in a newborn: Potential of tandem mass spectrometry for the differential diagnosis o... von Curia, G, Cananzi, M, Giordano, G, Burlina, A, Giordano, L, Bembi, B, Gasparetto, M, Guariso, G

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