Mapping, cloning and genetic characterization of the region containing the Wilson disease gene von Petrukhin, K., Fischer, S. G., Pirastu, M., Tanzi, R.E., Chernov, I., Devoto, M., Brzustowicz, L. M., Cayanis, E., Vitale, E., Russo, J. J., Matseoane, D., Boukhgalter, B., Wasco, W., Figus, A. L., Loudianos, J., Cao, A., Sternlieb, I., Evgrafov, O., Parano, E., Pavone, L., Warburton, D., Ott, J., Penchaszadeh, G. K., Scheinberg, I. H., Gilliam, T.C.

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Diagnosis and phenotypic classification of Wilson disease von Ferenci, Peter, Caca, Karel, Loudianos, Georgios, Mieli-Vergani, Georgina, Tanner, Stuart, Sternlieb, Irmin, Schilsky, Michael, Cox, Diane, Berr, Frieder

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Wilson's Disease von LOUDIANOS, GEORGIOS, GITLIN, JONATHAN D.

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Wilson's disease in Sardinian population: The experience of a pediatric referral center von Loudianos, Georgios, Satta, Stefania, Lepori, Maria B., Anni, Franco, Balloi, Roberta, Soddu, Consolata, Fenu, Maria L., Lilliu, Franco, Nurchi, Anna M., De Virgiliis, Stefano

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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population von Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Lepori, Maria Barbara, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni

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Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene von Mameli, Eva, Lepori, Maria Barbara, Chiappe, Francesca, Ranucci, Giusy, Di Dato, Fabiola, Iorio, Raffaele, Loudianos, Georgios

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Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels von Boccone, Loredana, Dessì, Valentina, Meloni, Antonella, Loudianos, Georgios

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High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs von Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos

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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases? von Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B, Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A, De Virgiliis, Stefano

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Gabapentin Can Improve Dystonia in Confirmed Wilson Disease von Lerose, Margherita, Fabio, Roberto Di, Serrao, Mariano, Loudianos, Georgios, Pierelli, Francesco, Casali, Carlo

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Genotype–phenotype correlation in Italian children with Wilson’s disease von Nicastro, Emanuele, Loudianos, Georgios, Zancan, Lucia, D’Antiga, Lorenzo, Maggiore, Giuseppe, Marcellini, Matilde, Barbera, Cristiana, Marazzi, Maria Grazia, Francavilla, Ruggiero, Pastore, Maria, Vajro, Pietro, D’Ambrosi, Mariangela, Vegnente, Angela, Ranucci, Giusy, Iorio, Raffaele

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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features von Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria B., Dessì, Valentina, Mameli, Eva, Orrù, Sandra, Podda, Rosa A., De Virgiliis, Stefano

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Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B) von Panagiotakaki, Eleni, Tzetis, Maria, Manolaki, Nina, Loudianos, Giorgos, Papatheodorou, Athanasios, Manesis, Emmanuel, Nousia-Arvanitakis, Sanda, V, Syriopoulou, Kanavakis, Emmanuel

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Prenatal diagnosis of methymalonic aciduria and homocystinuria cblC type using DNA analysis von Antonietta Zappu, Simona Incollu, Francesca Chiappe, Maria Barbara Lepori, Georgios Loudianos

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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population von Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni

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Allan–Herndon–Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH von Boccone, Loredana, Mariotti, Stefano, Dessì, Valentina, Pruna, Dario, Meloni, Antonella, Loudianos, Georgios

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Direct Diagnosis of Wilson Disease by Molecular Genetics von Caprai, Silvia, Loudianos, Georgios, Massei, Francesco, Gori, Laura, Lovicu, Mario, Maggiore, Giuseppe

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The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease von Lovicu, Mario, Dessì, Valeria, Lepori, Maria Barbara, Zappu, Antonietta, Zancan, Lucia, Giacchino, Raffaella, Marazzi, Maria Grazia, Iorio, Raffaele, Vegnente, Angela, Vajro, Pietro, Maggiore, Giuseppe, Marcellini, Matilde, Barbera, Cristiana, Kostic, Vladimir, Farci, Anna Maria Giulia, Solinas, Antonello, Altuntas, Buket, Yuce, Aysel, Kocak, Nurten, Tsezou, Aspasia, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios

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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations von Loudianos, Georgios, Dessi, Valeria, Lovicu, Mario, Angius, Andrea, Altuntas, Buket, Giacchino, Raffaella, Marazzi, Maria, Marcellini, Matilde, Sartorelli, Maria Rita, Sturniolo, Giacomo Carlo, Kocak, Nurten, Yuce, Aysel, Akar, Nejat, Pirastu, Mario, Cao, Antonio

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A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers von Cau, Milena, Boccone, Loredana, Mateddu, Anna, Addis, Maria, Serrenti, Marianna, Chessa, Roberta, Marrosu, Gianni, Loudianos, Georgios, Melis, Maria Antonietta

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