المؤلفون: Eugenio Sangiorgi, Alessia Azzarà, Roberto Rumore, Ilaria Cassano, Elena Verrecchia, Luciano Giacò, Maria Alessandra Tullio, Fiorella Gurrieri, Raffaele Manna

المصدر: Genes; Volume 14; Issue 7; Pages: 1310

مصطلحات موضوعية: autoinflammatory diseases, exome sequencing, periodic fever

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes14071310

الاتاحة: https://doi.org/10.3390/genes14071310

المؤلفون: Alessia Azzarà, Roberto Rumore, Fulvia Brugnoletti, Elisabetta Tabolacci, Irene Bottillo, Eugenio Sangiorgi, Fiorella Gurrieri

المصدر: Genes; Volume 14; Issue 2; Pages: 301

مصطلحات موضوعية: Asperger syndrome, exome sequencing, autism spectrum disorders, candidate gene

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Technologies and Resources for Genetics; https://dx.doi.org/10.3390/genes14020301

الاتاحة: https://doi.org/10.3390/genes14020301

المؤلفون: Azzarà, Alessia, Rumore, Roberto, Brugnoletti, Fulvia, Tabolacci, Elisabetta, Bottillo, Irene, Sangiorgi, Eugenio, Gurrieri, Fiorella, Roberto Rumore, Elisabetta Tabolacci (ORCID:0000-0002-4707-2242), Eugenio Sangiorgi (ORCID:0000-0001-9079-9175), Fiorella Gurrieri (ORCID:0000-0002-6775-5972)

مصطلحات الفهرس: Asperger syndrome, autism spectrum disorder, candidate gene, exome sequencing., Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/228427
info:eu-repo/semantics/altIdentifier/pmid/36833228
info:eu-repo/semantics/altIdentifier/wos/WOS:000938539100001
volume:14
issue:2
firstpage:301
lastpage:308
numberofpages:8
issueyear:2023
journal:GENES

المؤلفون: Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Silvia Romano, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali

المساهمون: Rossi, S, Rubegni, A, Riso, V, Barghigiani, M, Bassi, Mt, Battini, R, Bertini, E, Cereda, C, Cioffi, E, Criscuolo, C, Dal Fabbro, B, Dato, C, D'Angelo, Mg, Di Muzio, A, Diamanti, L, Dotti, Mt, Filla, A, Gioiosa, V, Liguori, R, Martinuzzi, A, Massa, R, Mignarri, A, Moroni, R, Musumeci, O, Nicita, F, Orologio, I, Orsi, L, Pegoraro, E, Petrucci, A, Plumari, M, Ricca, I, Rizzo, G, Romano, S, Rumore, R, Sampaolo, S, Scarlato, M, Seri, M, Stefan, C, Straccia, G, Tessa, A, Travaglini, L, Trovato, R, Ulgheri, L, Vazza, G, Orlacchio, A, Silvestri, G, Santorelli, Fm, Melone, Mab, Casali, C., Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C.

مصطلحات موضوعية: Settore MED/26 - NEUROLOGIA, spastic paraplegia, HSP, SPAST, SPG4, spastic paraplegia, degeneration of the corticospinal tract, Hereditary spastic paraplegia, HSP, SPAST, inherited rare neurologic disorder, Neurology (clinical), SPG4, Spastic paraplegia type 4, Genetics (clinical)

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a26546f0ba57414708f9d19347a587b8
https://hdl.handle.net/11391/1512578

المؤلفون: Fiorella Gurrieri, Anna Maria Crivello, Eugenio Sangiorgi, Claudia Rendeli, Roberto Rumore, Fulvia Brugnoletti, E. Ausili, Alessia Azzarà

مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, 030105 genetics & heredity, Settore MED/03 - GENETICA MEDICA, Candidate genes, 03 medical and health sciences, Exome Sequencing, Medicine, Humans, Exome, Genetic Predisposition to Disease, Neural Tube Defects, Gene, Spinal Dysraphism, Exome sequencing, Genetics, business.industry, Spina bifida, Neural tube, Whole exome sequencing, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ce60ff3e52206989f17914afa97852
http://hdl.handle.net/10807/191307

المؤلفون: Celeste Montecchiani, Toshitaka Kawarai, Marialuisa Miele, Roberto Rumore, F. Gaudiello, Antonio Orlacchio

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Epidemiology, Health Policy, Spastic paraparesis, Pedigree chart, Disease, Biology, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Molecular genetics, medicine, Neurology (clinical), Geriatrics and Gerontology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5c4984a51bd5e9f9fad0131583c804d9
https://doi.org/10.1002/alz.043932

المؤلفون: Roberto Rumore, Carlo Caltagirone, Mizuki Kodama, Ichizo Nishino, Hiroki Yamazaki, Ai Tsukamoto-Miyashiro, Antonio Orlacchio, Toshitaka Kawarai, Kei Yamakami

مصطلحات موضوعية: AIFM1, business.industry, Novel missense variation, Ataxic sensory neuronopathy, Broad clinical and histopathological variations, Hearing impairment, Sensory system, Bioinformatics, Neurology, Medicine, Missense mutation, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ffa5bdde508a9215ef49b7a4efdd22a
http://hdl.handle.net/11391/1455101

المؤلفون: Marialuisa Miele, F. Gaudiello, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Roberto Rumore, Toshitaka Kawarai

المصدر: Alzheimer's & Dementia. 14

مصطلحات موضوعية: medicine.medical_specialty, Epidemiology, business.industry, Health Policy, Disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Physical therapy, medicine, Neurology (clinical), Complicated hereditary spastic paraplegia, Geriatrics and Gerontology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fb2d827e0eb96aaac4d2416390e32ba0
https://doi.org/10.1016/j.jalz.2018.06.1476

المؤلفون: Antonio Orlacchio, Orlando Graziani Povoas Barsottini, Celeste Montecchiani, Carlo Caltagirone, Roberto Rumore, F. Gaudiello, José Luiz Pedroso, Marialuisa Miele, Toshitaka Kawarai

المصدر: Alzheimer's & Dementia. 15:P987-P987

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Epidemiology, Hereditary spastic paraplegia, business.industry, Health Policy, Disease, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, medicine, Neurology (clinical), Geriatrics and Gerontology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::108ea96753f901959ddf76f0b9c3c120
https://doi.org/10.1016/j.jalz.2019.06.3173