Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

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

Publikováno v: Frontiers in Neuroscience, Vol 14 (2020)

The identification of efficient markers of disease progression and response to possibly effective treatments is a key priority for slowly progressive, rare and neurodegenerative diseases, such as Friedreich’s ataxia. Various imaging modalities have

Externí odkaz: https://doaj.org/article/e520e76cbb0d4bbaabb29f57e5b37d5b

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

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

Publikováno v: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371

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,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318

Safety and efficacy of interferon γ in friedreich's ataxia

Autor: Roberto Testi, Eleonora Diella, Alessandra Rufini, Roberto Salati, Marinela Vavla, Nicola Toschi, Stefania Tirelli, Antonio Russo, Riccardo Luffarelli, Filippo Arrigoni, Maria Grazia D'Angelo, Silvia Fortuni, Andrea Martinuzzi, Ivano Condò, Denis Peruzzo, S. Gandossini, Paolo Scarpazza

Publikováno v: Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a49d52c126250a4e29d066556c07ebb
https://pubmed.ncbi.nlm.nih.gov/31930551

Arti e mestieri: Revolutionary Road ; La fontana della Vergine ; Dolores Carli, la conquista dello spazio interiore

Autor: Renata Giorgio, Roberto Salati, Clementina Pavoni

Publikováno v: STUDI JUNGHIANI. :111-122

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::37b9e3ad472bb19d0405f4387c929e4e
https://doi.org/10.3280/jun2009-030007

Single-cell heterogeneity of EGFR and CDK4 co-amplification is linked to immune infiltration in glioblastoma

Autor: Kacper A. Walentynowicz, Dalit Engelhardt, Simona Cristea, Shreya Yadav, Ugoma Onubogu, Roberto Salatino, Melanie Maerken, Cristina Vincentelli, Aashna Jhaveri, Jacob Geisberg, Thomas O. McDonald, Franziska Michor, Michalina Janiszewska

Publikováno v: Cell Reports, Vol 42, Iss 3, Pp 112235- (2023)

Summary: Glioblastoma (GBM) is the most aggressive brain tumor, with a median survival of ∼15 months. Targeted approaches have not been successful in this tumor type due to the large extent of intratumor heterogeneity. Mosaic amplification of oncog

Externí odkaz: https://doaj.org/article/60308efb3c604892b7520a2072a1e78d