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2. Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging

Author

Arrigoni, Filippo, primary, Rombetto, Luca, additional, Redaelli, Daniela, additional, Mancarella, Giorgio, additional, Polenghi, Francesco, additional, Salati, Roberto, additional, Romaniello, Romina, additional, Peruzzo, Denis, additional, Bianchi, Paolo Emilio, additional, Piozzi, Elena, additional, Mazza, Marco, additional, and Magli, Adriano, additional

Published
2022
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3. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Author

Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne, Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, and Kohl, Susanne

Abstract

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.

Published
2022
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4. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Author

Solaki, Maria, primary, Baumann, Britta, additional, Reuter, Peggy, additional, Andreasson, Sten, additional, Audo, Isabelle, additional, Ayuso, Carmen, additional, Balousha, Ghassan, additional, Benedicenti, Francesco, additional, Birch, David, additional, Bitoun, Pierre, additional, Blain, Delphine, additional, Bocquet, Beatrice, additional, Branham, Kari, additional, Català‐Mora, Jaume, additional, De Baere, Elfride, additional, Dollfus, Helene, additional, Falana, Mohammed, additional, Giorda, Roberto, additional, Golovleva, Irina, additional, Gottlob, Irene, additional, Heckenlively, John R., additional, Jacobson, Samuel G., additional, Jones, Kaylie, additional, Jägle, Herbert, additional, Janecke, Andreas R., additional, Kellner, Ulrich, additional, Liskova, Petra, additional, Lorenz, Birgit, additional, Martorell‐Sampol, Loreto, additional, Messias, André, additional, Meunier, Isabelle, additional, Belga Ottoni Porto, Fernanda, additional, Papageorgiou, Eleni, additional, Plomp, Astrid S., additional, de Ravel, Thomy J. L., additional, Reiff, Charlotte M., additional, Renner, Agnes B., additional, Rosenberg, Thomas, additional, Rudolph, Günther, additional, Salati, Roberto, additional, Sener, E. Cumhur, additional, Sieving, Paul A., additional, Stanzial, Franco, additional, Traboulsi, Elias I., additional, Tsang, Stephen H., additional, Varsanyi, Balázs, additional, Weleber, Richard G., additional, Zobor, Ditta, additional, Stingl, Katarina, additional, Wissinger, Bernd, additional, and Kohl, Susanne, additional

Published
2022
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6. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Author

Wissinger, Bernd, Schaich, Simone, Baumann, Britta, Bonin, Michael, Jägle, Herbert, Friedburg, Christoph, Varsányi, Balázs, Hoyng, Carel B., Dollfus, Hélène, Heckenlively, John R., Rosenberg, Thomas, Rudolph, Günter, Kellner, Ulrich, Salati, Roberto, Plomp, Astrid, De Baere, Elfride, Andrassi-Darida, Monika, Sauer, Alexandra, Wolf, Christiane, Zobor, Ditta, Bernd, Antje, Leroy, Bart P., Enyedi, Péter, Cremers, Frans P.M., Lorenz, Birgit, Zrenner, Eberhart, and Kohl, Susanne

Published
2011
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7. Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

Author

Vavla, Marinela, primary, Arrigoni, Filippo, additional, Toschi, Nicola, additional, Peruzzo, Denis, additional, D’Angelo, Maria Grazia, additional, Gandossini, Sandra, additional, Russo, Annamaria, additional, Diella, Eleonora, additional, Tirelli, Stefania, additional, Salati, Roberto, additional, Rufini, Alessandra, additional, Condo, Ivano, additional, Testi, Roberto, additional, and Martinuzzi, Andrea, additional

Published
2020
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8. Safety and Efficacy Of Interferon γ in Friedreich's Ataxia

Author

Vavla, Marinela, primary, D'Angelo, Maria Grazia, additional, Arrigoni, Filippo, additional, Toschi, Nicola, additional, Peruzzo, Denis, additional, Gandossini, Sandra, additional, Russo, Annamaria, additional, Diella, Eleonora, additional, Tirelli, Stefania, additional, Salati, Roberto, additional, Scarpazza, Paolo, additional, Luffarelli, Riccardo, additional, Fortuni, Silvia, additional, Rufini, Alessandra, additional, Condò, Ivano, additional, Testi, Roberto, additional, and Martinuzzi, Andrea, additional

Published
2020
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14. Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response

Author

Wissinger, Bernd, primary, Schaich, Simone, additional, Baumann, Britta, additional, Bonin, Michael, additional, Jägle, Herbert, additional, Friedburg, Christoph, additional, Varsányi, Balázs, additional, Hoyng, Carel B., additional, Dollfus, Hélène, additional, Heckenlively, John R., additional, Rosenberg, Thomas, additional, Rudolph, Günter, additional, Kellner, Ulrich, additional, Salati, Roberto, additional, Plomp, Astrid, additional, De Baere, Elfride, additional, Andrassi-Darida, Monika, additional, Sauer, Alexandra, additional, Wolf, Christiane, additional, Zobor, Ditta, additional, Bernd, Antje, additional, Leroy, Bart P., additional, Enyedi, Péter, additional, Cremers, Frans P.M., additional, Lorenz, Birgit, additional, Zrenner, Eberhart, additional, and Kohl, Susanne, additional

Published
2011
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16. CNGA3 mutations in hereditary cone photoreceptor disorders

Author

UCL - Autre, Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G., Cumhur Sener, E., Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre, Andreasson, Sten, Rudolph,Günter, Kellner, Ulrich, Lorenz, Birgit, Wollf, Gerhard, Dumoulin, Christine, Schwartz, Marianne, Cremers, Franz P.M., Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharper, Lindsay T., Kohl, Susanne, UCL - Autre, Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G., Cumhur Sener, E., Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre, Andreasson, Sten, Rudolph,Günter, Kellner, Ulrich, Lorenz, Birgit, Wollf, Gerhard, Dumoulin, Christine, Schwartz, Marianne, Cremers, Franz P.M., Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharper, Lindsay T., and Kohl, Susanne

Abstract

We recently showed that mutations in the CNGA3 gene encoding the alpha -subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete achromatopsia linked to chromosome 2q11. We now report the results of a first comprehensive screening for CNGA3 mutations in a cohort of 258 additional independent families with hereditary cone photoreceptor disorders. CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy. In total, mutations were identified in 53 independent families comprising 38 new CNGA3 mutations, in addition to the 8 mutations reported elsewhere. Apparently, both mutant alleles were identified in 47 families, including 16 families with presumed homozygous mutations and 31 families with two heterozygous mutations. Single heterozygous mutations were identified in six additional families. The majority of all known CNGA3 mutations (39/46) are amino acid substitutions compared with only four stop-codon mutations, two 1-bp insertions and one 3-bp in-frame deletion. The missense mutations mostly affect amino acids conserved among the members of the cyclic nucleotide gated (CNG) channel family and cluster at the cytoplasmic face of transmembrane domains (TM) S1 and S2, in TM S4, and in the cGMP-binding domain. Several mutations were identified recurrently (e.g., R277C, R283W, R436W, and F547L). These four mutations account for 41.8% of all detected mutant CNGA3 alleles. Haplotype analysis suggests that the R436W and F547L mutant alleles have multiple origins, whereas we found evidence that the R283W alleles, which are particularly frequent among patients from Scandinavia and northern Italy, have a common origin.

Published
2001

18. Changes in the Optic Disc Excavation of Children Affected by Cerebral Visual Impairment: A Tomographic Analysis

Author

Ruberto, Giulio, primary, Salati, Roberto, additional, Milano, Giovanni, additional, Bertone, Chiara, additional, Tinelli, Carmine, additional, Fazzi, Elisa, additional, Guagliano, Rosanna, additional, Signorini, Sabrina, additional, Borgatti, Renato, additional, Bianchi, Alessandro, additional, and Bianchi, Paolo Emilio, additional

Published
2006
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19. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

Author

Kohl, Susanne, primary, Varsanyi, Balazs, additional, Antunes, Gesine Abadin, additional, Baumann, Britta, additional, Hoyng, Carel B, additional, Jägle, Herbert, additional, Rosenberg, Thomas, additional, Kellner, Ulrich, additional, Lorenz, Birgit, additional, Salati, Roberto, additional, Jurklies, Bernhard, additional, Farkas, Agnes, additional, Andreasson, Sten, additional, Weleber, Richard G, additional, Jacobson, Samuel G, additional, Rudolph, Günther, additional, Castellan, Claudio, additional, Dollfus, Helene, additional, Legius, Eric, additional, Anastasi, Mario, additional, Bitoun, Pierre, additional, Lev, Dorit, additional, Sieving, Paul A, additional, Munier, Francis L, additional, Zrenner, Eberhart, additional, Sharpe, Lindsay T, additional, Cremers, Frans P M, additional, and Wissinger, Bernd, additional

Published
2004
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21. CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

Author

Wissinger, Bernd, primary, Gamer, Daphne, additional, Jägle, Herbert, additional, Giorda, Roberto, additional, Marx, Tim, additional, Mayer, Simone, additional, Tippmann, Sabine, additional, Broghammer, Martina, additional, Jurklies, Bernhard, additional, Rosenberg, Thomas, additional, Jacobson, Samuel G., additional, Sener, E. Cumhur, additional, Tatlipinar, Sinan, additional, Hoyng, Carel B., additional, Castellan, Claudio, additional, Bitoun, Pierre, additional, Andreasson, Sten, additional, Rudolph, Günter, additional, Kellner, Ulrich, additional, Lorenz, Birgit, additional, Wolff, Gerhard, additional, Verellen-Dumoulin, Christine, additional, Schwartz, Marianne, additional, Cremers, Frans P.M., additional, Apfelstedt-Sylla, Eckart, additional, Zrenner, Eberhart, additional, Salati, Roberto, additional, Sharpe, Lindsay T., additional, and Kohl, Susanne, additional

Published
2001
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25. CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.

Author

Kohl, Susanne, Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B., Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G., Jacobson, Samuel G., Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, and Anastasi, Mario

Subjects
COLOR blindness, COLOR vision, VISUAL acuity, NYSTAGMUS, EYE movement disorders, OCCUPATIONAL diseases, HUMAN genetics, GENETIC mutation, GENETICS
Abstract

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1?bp deletion, c.1148delC, which accounts for over 70%of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50%of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.European Journal of Human Genetics (2005) 13, 302-308. doi:10.1038/sj.ejhg.5201269 Published online 15 December 2004 [ABSTRACT FROM AUTHOR]

Published
2005
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27. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Author

Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, and Wissinger B

Subjects
Alleles, Animals, Color Vision Defects physiopathology, Color Vision Defects veterinary, Cyclic Nucleotide-Gated Cation Channels, Dog Diseases genetics, Dogs, Humans, Phenotype, Retinal Cone Photoreceptor Cells, Color Vision Defects genetics, Genes, Recessive, Ion Channels genetics, Mutation
Abstract

Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.

Published
2005
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