Zobrazeno 1 - 10
of 1 217
pro vyhledávání: '"Mutarelli M"'
Autor:
Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy. m.cesana@tigem.it.; Department of Advanced Biomedical Sciences, Federico II University, 80131, Naples, Italy. m.cesana@tigem.it., Tufano G; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Panariello F; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Zampelli N; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Soldati C; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Mutarelli M; National Research Council of Italy (CNR), Institute of Applied Sciences and Intelligent Systems 'Eduardo Caianiello', Pozzuoli, Italy., Montefusco S; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Grieco G; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Sepe LV; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Rossi B; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Nusco E; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy., Rossignoli G; Department of Biology, University of Padua, Padua, Italy., Panebianco G; Department of Biology, University of Padua, Padua, Italy., Merciai F; Department of Pharmacy, University of Salerno, Fisciano, 84084, Salerno, Italy., Salviati E; Department of Pharmacy, University of Salerno, Fisciano, 84084, Salerno, Italy., Sommella EM; Department of Pharmacy, University of Salerno, Fisciano, 84084, Salerno, Italy., Campiglia P; Department of Pharmacy, University of Salerno, Fisciano, 84084, Salerno, Italy., Martello G; Department of Biology, University of Padua, Padua, Italy., Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy.; Department of Translational Medical Sciences, Federico II University, 80131, Naples, Italy.; SSM School for Advanced Studies, Federico II University, Naples, Italy., Medina DL; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy.; Department of Translational Medical Sciences, Federico II University, 80131, Naples, Italy., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Naples, Italy. ballabio@tigem.it.; Department of Translational Medical Sciences, Federico II University, 80131, Naples, Italy. ballabio@tigem.it.; SSM School for Advanced Studies, Federico II University, Naples, Italy. ballabio@tigem.it.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. ballabio@tigem.it.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA. ballabio@tigem.it.
Publikováno v:
Cell death and differentiation [Cell Death Differ] 2024 Jul 04. Date of Electronic Publication: 2024 Jul 04.
Autor:
Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
Publikováno v:
Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018
https://doi.org/10.1016/j.gim.2023.100018
Autor:
Facchiano A; Institute of Food Sciences, National Research Council (CNR), Avellino, Italy., Heider D; Department of Mathematics & Computer Science, University of Marburg, Marburg, Germany., Mutarelli M; Institute of Applied Sciences and Intelligent Systems, National Research Council (CNR), Pozzuoli, Italy.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 Jan 30; Vol. 15, pp. 1371473. Date of Electronic Publication: 2024 Jan 30 (Print Publication: 2024).
Autor:
Pasquier A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Pastore N; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy., D'Orsi L; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Colonna R; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Esposito A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Maffia V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., De Cegli R; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Mutarelli M; Institute of Applied Sciences and Intelligent Systems, National Research Council (ISASI-CNR), Pozzuoli, Italy., Ambrosio S; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Tufano G; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Grimaldi A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy.; School for Advanced Studies, Genomics and Experimental Medicine Program, University of Naples 'Federico II', Naples, Italy., Delalleau N; University of Lille, U1190-EGID, Lille, France.; Inserm, U1190, Lille, France., Napolitano G; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy.; School for Advanced Studies, Genomics and Experimental Medicine Program, University of Naples 'Federico II', Naples, Italy., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy.; School for Advanced Studies, Genomics and Experimental Medicine Program, University of Naples 'Federico II', Naples, Italy.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
Publikováno v:
The EMBO journal [EMBO J] 2023 Nov 02; Vol. 42 (21), pp. e113928. Date of Electronic Publication: 2023 Sep 15.
Autor:
Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.
Publikováno v:
Brain : a journal of neurology, vol 145, iss 9
BRAIN
BRAIN
Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with a rare neurodevelopmental disorder with structural brain anomalies and facial dysmorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949
https://escholarship.org/uc/item/6xw4z6x0
https://escholarship.org/uc/item/6xw4z6x0
Autor:
Carbognin E; Department of Molecular Medicine, Medical School, University of Padua, Padua, Italy.; Department of Biology, University of Padua, Padua, Italy., Carlini V; Epigenetics & Neurobiology Unit, European Molecular Biology Laboratory (EMBL)-Rome, Adriano Buzzati-Traverso Campus, Rome, Italy.; Collaboration for joint PhD degree between EMBL and Heidelberg University, Faculty of Biosciences, Heidelberg, Germany., Panariello F; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Chieregato M; Department of Biology, University of Padua, Padua, Italy., Guerzoni E; Department of Biology, University of Padua, Padua, Italy., Benvegnù D; Department of Biology, University of Padua, Padua, Italy., Perrera V; Department of Molecular Medicine, Medical School, University of Padua, Padua, Italy., Malucelli C; Department of Molecular Medicine, Medical School, University of Padua, Padua, Italy., Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Grimaldi A; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Mutarelli M; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Istituto di Scienze Applicate e Sistemi Intelligenti 'Eduardo Caianiello', Consiglio Nazionale delle Ricerche, Pozzuoli, Italy., Carissimo A; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Istituto per le Applicazioni del Calcolo 'Mauro Picone,' Consiglio Nazionale delle Ricerche, Naples, Italy., Tannenbaum E; The Faculty of Engineering, Bar-Ilan University, Ramat Gan, Israel., Kugler H; The Faculty of Engineering, Bar-Ilan University, Ramat Gan, Israel., Hackett JA; Epigenetics & Neurobiology Unit, European Molecular Biology Laboratory (EMBL)-Rome, Adriano Buzzati-Traverso Campus, Rome, Italy. jamie.hackett@embl.it., Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy. d.cacchiarelli@tigem.it.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. d.cacchiarelli@tigem.it.; School for Advanced Studies, Genomics and Experimental Medicine Program, University of Naples 'Federico II', Naples, Italy. d.cacchiarelli@tigem.it., Martello G; Department of Biology, University of Padua, Padua, Italy. graziano.martello@unipd.it.
Publikováno v:
Nature cell biology [Nat Cell Biol] 2023 May; Vol. 25 (5), pp. 643-657. Date of Electronic Publication: 2023 Apr 27.
Akademický článek
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EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation.
Autor:
Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy., Tufano G; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Panariello F; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Zampelli N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Ambrosio S; Department of Biology, University of Naples 'Federico II', Naples, Italy., De Cegli R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Mutarelli M; Istituto di Scienze Applicate e Sistemi Intelligenti 'E. Caianiello,' Consiglio Nazionale Delle Ricerche, Pozzuoli, Italy., Vaccaro L; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy., Ziller MJ; Lab for Genomics of Complex Diseases, Max Planck Institute of Psychiatry, Munich, Germany.; Department of Psychiatry, University of Münster, Münster, Germany., Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Medical and Translational Science, Federico II University, Naples, Italy., Medina DL; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Medical and Translational Science, Federico II University, Naples, Italy., Ballabio A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Medical and Translational Science, Federico II University, Naples, Italy.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, United States of America.
Publikováno v:
PLoS biology [PLoS Biol] 2023 Mar 08; Vol. 21 (3), pp. e3002034. Date of Electronic Publication: 2023 Mar 08 (Print Publication: 2023).
Autor:
Ciaccio C., Castello R., Esposito S., Pinelli M., Nigro V., Casari G., Chiapparini L., Pantaleoni C., Torella A., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Capra V., Leuzzi V., Selicorni A., Maitz S., Brunetti-Pierri N., Banfi S., Zollino M., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., D'Arrigo S.
Spinocerebellar Ataxia 23 (SCAR23) is a newly described condition caused by mutations in TDP2 gene. To date, only four patients from two families have been reported, all carrying the same homozygous mutation. We describe a fifth patient, carrying a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4a111e1cead0699c31f763629736e5
http://www.springerlink.com/content/120973/
http://www.springerlink.com/content/120973/
Akademický článek
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