TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis von Conforti, F L, Sproviero, W, Simone, I L, Mazzei, R, Valentino, P, Ungaro, C, Magariello, A, Patitucci, A, La Bella, V, Sprovieri, T, Tedeschi, G, Citrigno, L, Gabriele, A L, Bono, F, Monsurrò, M R, Muglia, M, Gambardella, A, Quattrone, A

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The spectrum of Notch3 mutations in 28 Italian CADASIL families von Dotti, M T, Federico, A, Mazzei, R, Bianchi, S, Scali, O, Conforti, F L, Sprovieri, T, Guidetti, D, Aguglia, U, Consoli, D, Pantoni, L, Sarti, C, Inzitari, D, Quattrone, A

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Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia von Martino, D., Muglia, M., Abbruzzese, G., Berardelli, A., Girlanda, P., Liguori, M., Livrea, P., Quattrone, A., Roselli, F., Sprovieri, T., Valente, E. M., Defazio, G.

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CADASIL: Extended polymorphisms and mutational analysis of the NOTCH3 gene von Ungaro, C., Mazzei, R., Conforti, F.L., Sprovieri, T., Servillo, P., Liguori, M., Citrigno, L., Gabriele, A.L., Magariello, A., Patitucci, A., Muglia, M., Quattrone, A.

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A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy von Conforti, F.L, Sprovieri, T, Mazzei, R, Ungaro, C, La Bella, V, Tessitore, A, Patitucci, A, Magariello, A, Gabriele, A.L, Tedeschi, G, Simone, I.L, Majorana, G, Valentino, P, Condino, F, Bono, F, Monsurrò, M.R, Muglia, M, Quattrone, A

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A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (CDKL5) gene associated with a severe Rett phenotype von Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A.

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A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL von MAZZEI, R, CONFORTI, F. L, FERA, F, VALENTINO, P, BONO, F, CENACCHI, G, SANTORO, G, MUGLIA, M, QUATTRONE, A, LANZA, P. L, SPROVIERI, T, LUPO, M. R, GALLO, O, PATITUCCI, A, MAGARIELLO, A, CARACCIOLO, M, GABRIELE, A. L

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First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL von Mazzei, R, Guidetti, D, Ungaro, C, Conforti, F L, Muglia, M, Cenacchi, G, Lanza, P L, Patitucci, A, Sprovieri, T, Riguzzi, P, Magariello, A, Gabriele, A L, Citrigno, L, Preda, P, Quattrone, A

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A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2 von Muglia, M, Magariello, A, Citrigno, L, Passamonti, L, Sprovieri, T, Conforti, FL, Mazzei, R, Patitucci, A, Gabriele, AL, Ungaro, C, Bellesi, M, Quattrone, A

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A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL von Ungaro, C., Servillo, P., Mazzei, Rosalucia, Consoli, D., Conforti, F. L., Sprovieri, T., Lanza, P. L., Quattrone, A.

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Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P) von VALENTINO, P, CONFORTI, F. L, GAMBARDELLA, A, ZAPPIA, M, QUATTRONE, A, PIRRITANO, D, NISTICB, R, MAZZEI, R, PATITUCCI, A, SPROVIERI, T, GABRIELE, A. L, MUGLIA, M, CLODOMIRO, A

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Gene symbol: NOTCH3 von Mazzei, R, Conforti, F L, Ungaro, C, Liguori, M, Sprovieri, T, Patitucci, A, Magariello, A, Gabriele, A L, Muglia, M, Quattrone, A

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A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2) von CONFORTI, F. L, MUGLIA, M, PELUSO, G, NISTICO, R, SENDEREK, J, QUATTRONE, A, MAZZEI, R, PATITUCCI, A, VALENTINO, P, MAGARIELLO, A, SPROUIERI, T, BONO, F, BERGMANN, C, GABRIELE, A. L

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Gene symbol: MECP2. Disease: Rett syndrome von Conforti, F L, Mazzei, R, Patitucci, A, Magariello, A, Sprovieri, T, Ungaro, C, Gabriele, A L, Muglia, M, Del Giudice, E, Quattrone, A

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Speciation of mercury in the waters of the Weddell, Amundsen and Ross Seas (Southern Ocean) von Nerentorp Mastromonaco, Michelle G, Gårdfeldt, Katarina, Assmann, Karen M., Langer, Sarka, Delali, Tulasi, Shlyapnikov, Yaroslav M., Zivkovic, Igor, Horvat, Milena

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Dissolved gaseous mercury (DGM) in the Mediterranean Sea: Spatial and temporal trends von Kotnik, Jože, Horvat, Milena, Begu, Ermira, Shlyapnikov, Yaroslav, Sprovieri, Francesca, Pirrone, Nicola

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Seasonal and spatial evasion of mercury from the western Mediterranean Sea von Nerentorp Mastromonaco, Michelle G, Gårdfeldt, Katarina, Wängberg, Ingvar

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Mercury flux over West Antarctic Seas during winter, spring and summer von Nerentorp Mastromonaco, Michelle G., Gårdfeldt, Katarina, Langer, Sarka

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The angiotensin receptor neprilysin inhibitor LCZ696 in heart failure with preserved ejection fraction: a phase 2 double-blind randomised controlled trial von Solomon, Scott D, Prof Dr, Zile, Michael, Prof, Pieske, Burkert, Prof, Voors, Adriaan, Prof, Shah, Amil, MD, Kraigher-Krainer, Elisabeth, MD, Shi, Victor, MD, Bransford, Toni, MD, Takeuchi, Madoka, MS, Gong, Jianjian, PhD, Lefkowitz, Martin, MD, Packer, Milton, Prof, McMurray, John JV, Prof

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Environment and Health

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