PA.39 ROLE OF TLR PATHWAY IN THE PATHOGENESIS OF GLUTEN SENSITIVITY: PRELIMINARY STUDY von Sapone, A, Imbrici, L, Giuliano, M.T, Cammarota, M, De Rosa, M, Cartenì, M, Cariello, R, Caravelli, G, Martorelli, L, Tolone, C, Papparella, A, Familiari, V, Riegler, G, Fasano, A, de Magistris, L

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Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia von Imbrici, Paola, Jaffe, Stephen L., Eunson, Louise H., Davies, Nicholas P., Herd, Colin, Robertson, Robert, Kullmann, Dimitri M., Hanna, Michael G.

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The Impact of Mobile Apps for Spontaneous Reporting: Experience from COVID-19 Vaccines Safety Surveillance von Magro, L, Imbrici, P, Rubbi, S, Arzenton, E, Lora, R, Stano, M G, Girotti, S, Petrelli, G, Moretti, U

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ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation von Imbrici, P., Maggi, L., Mangiatordi, G. F., Dinardo, M. M., Altamura, C., Brugnoni, R., Alberga, D., Pinter, G. Lauria, Ricci, G., Siciliano, G., Micheli, R., Annicchiarico, G., Lattanzi, G., Nicolotti, O., Morandi, L., Bernasconi, P., Desaphy, J.‐F., Mantegazza, R., Camerino, D. Conte

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Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia von Altamura, Concetta, Ivanova, Evgeniya A., Imbrici, Paola, Conte, Elena, Camerino, Giulia Maria, Dadali, Elena L., Polyakov, Alexander V., Kurbatov, Sergei Aleksandrovich, Girolamo, Francesco, Carratù, Maria Rosaria, Desaphy, Jean-François

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Prevalence study of muscle channelopathies in Italy von Maggi, L, Lo Monaco, M, Portaro, S, Meola, G, Desaphy, J, Lucchiari, S, Pagliarani, S, Bernasconi, P, Imbrici, P, Comi, G, Mantegazza, R, Trojano, M, D'Amico, A, Pegoraro, E, Politano, L, Mongini, T, Siciliano, G, Conte Camerino, D, Toscano, A, Sansone, V

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Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes von Desaphy, Jean-François, Gramegna, Gianluca, Altamura, Concetta, Dinardo, Maria Maddalena, Imbrici, Paola, George, Alfred L., Modoni, Anna, LoMonaco, Mauro, Conte Camerino, Diana

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Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1 von Pessia, Mauro, Imbrici, Paola, D'Adamo, Maria Cristina, Salvatore, Lorena, Tucker, Stephen J.

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Functional and pharmacological characterization of the new M1808I mutation in hNav1.4 found in a patient presenting with myotonia and myasthenia von Roussel, J, Imbrici, P, Maggi, L, Farinato, A, Crescenzo, G, Bernasconi, P, Mantegazza, R, Conte Camerino, D, Desaphy, J

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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A von IMBRICI, P, EUNSON, L. H, GRAVES, T. D, BHATIA, K. P, WADIA, N. H, KULLMANN, D. M, HANNA, M. G

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pH Dependence of the Inwardly Rectifying Potassium Channel, Kir5.1, and Localization in Renal Tubular Epithelia von Tucker, Stephen J., Imbrici, Paola, Salvatore, Lorena, D'Adamo, Maria Cristina, Pessia, Mauro

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Andersen-Tawil syndrome : New potassium channel mutations and possible phenotypic variation von DAVIES, N. P, IMBRICI, P, GIUNTI, P, PARSONS, L. M, THOMAS, M, MANZUR, A. Y, JURKAT-ROTT, K, LEHMANN-HORN, F, CHINNERY, P. F, ROSE, M, KULLMANN, D. M, HANNA, M. G, FIALHO, D, HERD, C, BILSLAND, L. G, WEBER, A, MUELLER, R, HILTON-JONES, D, EALING, J, BOOTHMAN, B. R

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G.P.137 von Imbrici, P, Desaphy, J.F, Brugnoni, R, Colleoni, L, Canioni, E, Kapetis, D, Altamura, C, Bernasconi, P, Morandi, L, Maggi, L, Mantegazza, R, Conte, D

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G.P.79 - Functional and pharmacological characterization of the new M1808I mutation in hNav1.4 found in a patient presenting with myotonia and myasthenia von Roussel, J., Imbrici, P., Maggi, L., Farinato, A., Crescenzo, G., Bernasconi, P., Mantegazza, R., Conte Camerino, D., Desaphy, J.

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G.P.137: Functional study of five new CLC-1 mutations causing myotonia congenita in Italian families von Imbrici, P., Desaphy, J.F., Brugnoni, R., Colleoni, L., Canioni, E., Kapetis, D., Altamura, C., Bernasconi, P., Morandi, L., Maggi, L., Mantegazza, R., Conte, D.

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P.371 - Prevalence study of muscle channelopathies in Italy von Maggi, L., Lo Monaco, M., Portaro, S., Meola, G., Desaphy, J., Lucchiari, S., Pagliarani, S., Bernasconi, P., Imbrici, P., Comi, G., Mantegazza, R., Trojano, M., D'Amico, A., Pegoraro, E., Politano, L., Mongini, T., Siciliano, G., Conte Camerino, D., Toscano, A., Sansone, V.

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Functional characterization of CIC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes von DESAPHY, Jean-François, GRAMEGNA, Gianluca, ALTAMURA, Concetta, DINARDO, Maria Maddalena, IMBRICI, Paola, GEORGE, Alfred L, MODONI, Anna, LOMONACO, Mauro, CAMERINO, Diana Conte

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Late-onset episodic ataxia type 2 due to an inframe insertion in CACNA1A von Imbrici, P, Eunson, L H, Graves, T D, Bhatia, K P, Wadia, N H, Kullmann, D M, Hanna, M G

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Dysfunction of the brain calcium channel Ca sub(V)2.1 in absence epilepsy and episodic ataxia von Imbrici, Paola, Jaffe, Stephen L, Eunson, Louise H, Davies, Nicholas P, Herd, Colin, Robertson, Robert, Kullmann, Dimitri M, Hanna, Michael G

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The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel von Altamura, C, Lucchiari, S, Sahbani, D, Ulzi, G, Comi, GP, D'Ambrosio, P, Petillo, R, Politano, L, Vercelli, L, Mongini, T, Dotti, MT, Cardani, R, Meola, G, Lo Monaco, M, Matthews, E, Hanna, MG, Carratù, MR, Conte, D, Imbrici, P, Desaphy, J-F

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