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1دورية أكاديمية
المؤلفون: 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
المصدر: Frontiers in Neuroscience, Vol 14 (2020)
مصطلحات موضوعية: neuroimaging, Friedreich’s ataxia, trial, fMRI, task fMRI, resting-state fMRI, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Filippo Arrigoni, Luca Rombetto, Daniela Redaelli, Giorgio Mancarella, Francesco Polenghi, Roberto Salati, Romina Romaniello, Denis Peruzzo, Paolo Emilio Bianchi, Elena Piozzi, Marco Mazza, Adriano Magli
المصدر: Neuroradiology.
مصطلحات موضوعية: Radiology, Nuclear Medicine and imaging, Neurology (clinical), Cardiology and Cardiovascular Medicine
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المؤلفون: 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
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical sciences, Medical Genetics
المصدر: 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.24371مصطلحات موضوعية: NUCLEOTIDE-GATED CHANNELS, JAPANESE, analysis, Cyclic Nucleotide-Gated Cation Channels, Color Vision Defects, TOTAL COLOURBLINDNESS, PATIENT, MOLECULAR-GENETICS, variant spectrum, Medicine and Health Sciences, Genetics, in silico analysis, Humans, NONSENSE MUTATION, PAKISTANI FAMILIES, Color Vision Defects/genetics, variant classification, Genetics (clinical), Medicinsk genetik, FUNCTIONAL-ANALYSIS, UNFOLDED PROTEIN RESPONSE, CNGA3, PHOTORECEPTOR DEGENERATION, Cyclic Nucleotide-Gated Cation Channels/genetics, in silico, cyclic nucleotide-gated ion channel, Mutation, Retinal Cone Photoreceptor Cells, achromatopsia, ALPHA-SUBUNIT, Medical Genetics
وصف الملف: application/pdf
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المؤلفون: Roberto Salati, Cesare Secchi
المصدر: RIVISTA SPERIMENTALE DI FRENIATRIA. :131-152
مصطلحات موضوعية: General Engineering
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3da7c631205cfcc668ef5365f32d014b
https://doi.org/10.3280/rsf2019-002007 -
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المؤلفون: 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
المصدر: Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(2)
مصطلحات موضوعية: Adult, Male, Ataxia, Efficacy, business.industry, clinical trial, Settore MED/04, Interferon-gamma, Text mining, Phenotype, Neurology, Interferon γ, Trinucleotide Repeats, Friedreich Ataxia, Immunology, Medicine, Humans, Female, Neurology (clinical), medicine.symptom, Safety, business
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6دورية أكاديمية
المؤلفون: 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
المصدر: Cell Reports, Vol 42, Iss 3, Pp 112235- (2023)
مصطلحات موضوعية: CP: Cancer, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Ulrich Kellner, Bernd Wissinger, Eberhart Zrenner, Hélène Dollfus, Balázs Varsányi, Günter Rudolph, Susanne Kohl, Britta Baumann, John R. Heckenlively, Elfride De Baere, Thomas Rosenberg, Frans P.M. Cremers, Monika Andrassi-Darida, Christiane Wolf, Ditta Zobor, Simone Schaich, Astrid S. Plomp, Roberto Salati, Carel B. Hoyng, Péter Enyedi, Birgit Lorenz, Antje Bernd, Christoph Friedburg, Alexandra Sauer, Michael Bonin, Bart P. Leroy, Herbert Jägle
المساهمون: Netherlands Institute for Neuroscience (NIN), Human Genetics, Paediatric Genetics
المصدر: Human Mutation, 32, 1398-406
Human Mutation, 32, 12, pp. 1398-406
Human Mutation, 32, 1398-1406. Wiley-Liss Inc.
Human mutation, 32(12), 1398-1406. Wiley-Liss Inc.مصطلحات موضوعية: Genetics, Heterozygote, Genetics and epigenetic pathways of disease [NCMLS 6], Cone dystrophy with supernormal rod response, Protein subunit, Mutant, Breakpoint, Homozygote, Locus (genetics), Biology, Pedigree, Amino Acid Substitution, Potassium Channels, Voltage-Gated, Two-Hybrid System Techniques, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Humans, Allele, Gene, Genetics (clinical), VLDLR Gene, Retinitis Pigmentosa, Sequence Deletion
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المؤلفون: Renata Giorgio, Roberto Salati, Clementina Pavoni
المصدر: STUDI JUNGHIANI. :111-122
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::37b9e3ad472bb19d0405f4387c929e4e
https://doi.org/10.3280/jun2009-030007 -
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المؤلفون: A. Cavallini, Roberto Salati, Renato Borgatti, G. Giammari Aldè
المصدر: CHILD DEVELOPMENT & DISABILITIES - SAGGI. :20-32
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0086ae11ef77aeb3a2f24ed128e0cf95
https://doi.org/10.3280/cdd2009-001003 -
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المؤلفون: Alessandra Tonelli, Tiziano Frattini, Laura Villa, Chiara Germinasi, Maria Teresa Bassi, Maria Grazia D'Angelo, Anna Carla Turconi, Nereo Bresolin, Giovanni Meola, Roberto Salati
المصدر: Journal of the Neurological Sciences. 241:13-17
مصطلحات موضوعية: Male, Genetics, Mutation, Point mutation, DNA Mutational Analysis, Mutation, Missense, Glutamic Acid, Biology, Arginine, medicine.disease, medicine.disease_cause, Central nervous system disease, Neurology, Child, Preschool, Spinocerebellar ataxia, medicine, Humans, Spinocerebellar Ataxias, Spinocerebellar ataxia type 6, Missense mutation, Calcium Channels, Neurology (clinical), Age of Onset, Allele, Familial hemiplegic migraine
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