المؤلفون: Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt

المصدر: iScience, Vol 28, Iss 2, Pp 111670- (2025)

مصطلحات موضوعية: Cell biology, Cellular physiology, Human Genetics, Integrative aspects of cell biology, Science

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589004224028979; https://doaj.org/toc/2589-0042

URL الوصول: https://doaj.org/article/7a7a4c3e3422406b806dee39a3c4b48f

المؤلفون: Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D’Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 12; Pages: 6723

مصطلحات موضوعية: cerebellar atrophy, MRI, ataxia

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms23126723

الاتاحة: https://doi.org/10.3390/ijms23126723

المؤلفون: Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente

المساهمون: Serpieri, Valentina, D'Abrusco, Fulvio, C Dempsey, Jennifer, Hank Cheng, Yong-Han, Arrigoni Janice Baker, Filippo, Battini, Roberta, Silvio Bertini, Enrico, Borgatti, Renato, K Christman, Angela, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel, Freilinger, Michael, Gana, Simone, E Ishak, Gisele, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, V Miller, Caitlin, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Maria Valente, Enza

مصطلحات موضوعية: neonatal diseases and abnormalitie, central nervous system disease, cerebellar disease, congenital, early diagnosi, genetic variation, hereditary

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000725017900001; firstpage:1; lastpage:7; numberofpages:7; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/1582161; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85120304902

الاتاحة: http://hdl.handle.net/11573/1582161
https://doi.org/10.1136/jmedgenet-2021-108114

المؤلفون: Michal, Gafner, Eugen, Boltshauser, Fulvio, D'Abrusco, Roberta, Battini, Romina, Romaniello, Stefano, D'Arrigo, Ginevra, Zanni, Zvi, Leibovitz, Keren, Yosovich, Tally, Lerman-Sagie, Francesco, Nicita

المصدر: Developmental Medicine & Child Neurology. 65:544-550

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac8a236e360171e7c02d7b1819771680
https://doi.org/10.1111/dmcn.15419

المؤلفون: Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

المصدر: Journal of Medical Genetics. :jmedgenet-2022

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::691ac43d5d20cbb52c03d3920d7b3347
https://doi.org/10.1136/jmg-2022-108725

المؤلفون: Romina Romaniello, Renato Borgatti, Lorenzo Pinelli, Elena Panzeri, Bosanka Jocic-Jakubi, Filippo Arrigoni, Filippo Manti, Caterina Caputi, Anna Pichiecchio, Andrea Righini, Valentina Serpieri, Elisabetta Lucarelli, Maria Clara Bonaglia, Enza Maria Valente, Vincenzo Leuzzi, Luisa Chiapparini, Fulvio D’Abrusco

المصدر: Cerebellum (London, England). 21(6)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Ataxia, Joubert syndrome, Retina, Neuroimaging, Cerebellum, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Diagnostic Errors, Child, Exome sequencing, Genetic testing, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Diagnostic yield, Misdiagnosis, Molar tooth sign, NGS, Poretti-Boltshauser syndrome, Kidney Diseases, Cystic, medicine.disease, Hypotonia, Ciliopathy, Neurology, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9a3ed979b354272077ea509b2d592c
https://pubmed.ncbi.nlm.nih.gov/34846692

المؤلفون: R Ciccone, Francesco Corrente, M Tosi, Rita Carsetti, Ginevra Zanni, M Motta, Simona Cascioli, Enza Maria Valente, Gessica Vasco, Fulvio D’Abrusco, Enrico Bertini, Valentina Serpieri, Francesco Nicita

المصدر: Cerebellum (London, England). 21(4)

مصطلحات موضوعية: Male, Cerebellar Ataxia, Glycosylphosphatidylinositols, Biology, 050105 experimental psychology, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, medicine, Humans, 0501 psychology and cognitive sciences, Phosphatidylinositol, Lipid raft, Cerebellar ataxia, Endoplasmic reticulum, 05 social sciences, Membrane Proteins, medicine.disease, Phenotype, Cell biology, Pedigree, carbohydrates (lipids), Neurology, chemistry, Mutation, Muscle Hypotonia, Cerebellar atrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7f355939232bdac812aa8c13041fbe
https://pubmed.ncbi.nlm.nih.gov/34089469

المؤلفون: Valentina, Serpieri, Fulvio, D'Abrusco, Jennifer C, Dempsey, Yong-Han Hank, Cheng, Filippo, Arrigoni, Janice, Baker, Roberta, Battini, Enrico Silvio, Bertini, Renato, Borgatti, Angela K, Christman, Cynthia, Curry, Stefano, D'Arrigo, Joel, Fluss, Michael, Freilinger, Simone, Gana, Gisele E, Ishak, Vincenzo, Leuzzi, Hailey, Loucks, Filippo, Manti, Nancy, Mendelsohn, Laura, Merlini, Caitlin V, Miller, Ansar, Muhammad, Sara, Nuovo, Romina, Romaniello, Wolfgang, Schmidt, Sabrina, Signorini, Sabrina, Siliquini, Krzysztof, Szczałuba, Gessica, Vasco, Meredith, Wilson, Ginevra, Zanni, Eugen, Boltshauser, Dan, Doherty, Enza Maria, Valente, X, Zhang

المساهمون: University of Washington Center for Mendelian Genomics (UW-CMG) group, Bamshad, M.J., Leal, S.M., Nickerson, D.A., Anderson, P., Bacus, T.J., Blue, E.E., Brower, K., Buckingham, K.J., Chong, J.X., Cornejo Sánchez, D., Davis, C.P., Davis, C.J., Frazar, C.D., Gomeztagle-Burgess, K., Gordon, W.W., Horike-Pyne, M., Hurless, J.R., Jarvik, G.P., Johanson, E., Kolar, J.T., Marvin, C.T., McGee, S., McGoldrick, D.J., Mekonnen, B., Nielsen, P.M., Patterson, K., Radhakrishnan, A., Richardson, M.A., Roote, G.T., Ryke, E.L., Schrauwen, I., Shively, K.M., Smith, J.D., Tackett, M., Wang, G., Weiss, J.M., Wheeler, M.M., Yi, Q., Zhang, X.

المصدر: Journal of medical genetics, vol. 59, no. 9, pp. 888-894

مصطلحات موضوعية: Male, Proband, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Cerebellar dysplasia, cerebellar diseases, Haploinsufficiency, Abnormalities, Multiple/genetics, Cerebellar Ataxia/genetics, Cerebellum/abnormalities, Cerebellum/diagnostic imaging, Eye Abnormalities/genetics, Haploinsufficiency/genetics, Humans, Intellectual Disability/genetics, Kidney Diseases, Cystic/diagnosis, Kidney Diseases, Cystic/genetics, Phenotype, Repressor Proteins/genetics, Retina/abnormalities, and neonatal diseases and abnormalities, central nervous system diseases, congenital, early diagnosis, genetic variation, hereditary, Retina, Joubert syndrome, neonatal diseases and abnormalities, Cerebellum, Intellectual Disability, Genetics, medicine, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), business.industry, Kidney Diseases, Cystic, medicine.disease, Penetrance, Hypotonia, Repressor Proteins, Ciliopathy, medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc739ec43b16294432e6c486a220ed30
http://hdl.handle.net/11573/1582161

المؤلفون: Fulvio D'Abrusco, Filippo Arrigoni, Valentina Serpieri, Romina Romaniello, Caterina Caputi, Bosanke Jocic-Jakubi, Elisabetta Lucarelli, Elena Panzeri, Maria Clara Bonaglia, Vincenzo Leuzzi, Renato Borgatti, Valente Enza Maria

مصطلحات موضوعية: Patients, variants, phenotypes, genotypes, WES

Relation: https://doi.org/10.1007/s12311-021-01350-8; https://zenodo.org/communities/irccs-mondino-foundation; https://doi.org/10.5281/zenodo.5149069; https://doi.org/10.5281/zenodo.5149070; oai:zenodo.org:5149070

الاتاحة: https://doi.org/10.5281/zenodo.5149070