المؤلفون: Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Telemedicine, CPMS, ERN, Rare diseases, Digital health, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a63c0e0266e34366b30660e184a94201

المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)

مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/4/186; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27

المؤلفون: Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei

المصدر: Life, Vol 12, Iss 1, p 5 (2021)

مصطلحات موضوعية: mitochondrial diseases, spinal cord, MRI, biomarkers, mtDNA, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/12/1/5; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/e4549ce6c29c44c2b88235a38c798e12

المؤلفون: Carla Piano, Enrico Di Stasio, Guido Primiano, Delfina Janiri, Marco Luigetti, Giovanni Frisullo, Catello Vollono, Matteo Lucchini, Valerio Brunetti, Mauro Monforte, Valeria Guglielmi, Giacomo Della Marca, Amelia Evoli, Camillo Marra, Massimiliano Mirabella, Davide Quaranta, Enzo Ricci, Serenella Servidei, Gabriella Silvestri, Simone Bellavia, Sara Bortolani, Francesco Bove, Riccardo Di Iorio, Andrea Di Paolantonio, Danilo Genovese, Tamara Ialongo, Maria Rita Lo Monaco, Jessica Marotta, Agata Katia Patanella, Alessia Perna, Martina Petracca, Giorgia Presicce, Vittorio Riso, Eleonora Rollo, Angela Romano, Marina Romozzi, Cristina Sancricca, Irene Scala, Gregorio Spagni, Marcella Solito, Luca Tricoli, Paola Zinzi, Paolo Calabresi, Anna Rita Bentivoglio

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: neurology, infection, coronavirus, pandemic, health care, COVID-19, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00564/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8b15a60869134d2f9ae6ef7d48bd129a

المؤلفون: Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Emiliano Giardina

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: LGMDs, CAPN3, LMNA, NGS panel, familial investigation, calpainopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00619/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/43e02823761e472786c7687376842595

المؤلفون: Roberta Morosetti M.D., Teresa Gidaro, Aldobrando Broccolini, Carla Gliubizzi, Cristina Sancricca, Pietro Attilio Tonali, Enzo Ricci, Massimiliano Mirabella M.D., Ph.D.

المصدر: Cell Transplantation, Vol 20 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0963-6897; https://doaj.org/toc/1555-3892

URL الوصول: https://doaj.org/article/0d8c704a089d46c2803583317f82359c

المؤلفون: Stefania Della Vecchia, Alessandra Tessa, Claudia Dosi, Jacopo Baldacci, Rosa Pasquariello, Antonella Antenora, Guja Astrea, Maria Teresa Bassi, Roberta Battini, Carlo Casali, Ettore Ciof, Greta Conti, Giovanna De Michele, Anna Rita Ferrari, Alessandro Filla, Chiara Fiorillo, Carlo Fusco, Salvatore Gallone, Chiara Germiniasi, Renzo Guerrini, Shalom Haggiag, Diego Lopergolo, Andrea Martinuzzi, Federico Melani, Andrea Mignarri, Elena Panzeri, Antonella Pini, Anna Maria Pinto, Francesca Pochiero, Guido Primiano, Elena Procopio, Alessandra Renieri, Romina Romaniello, Cristina Sancricca, Serenella Servidei, Carlotta Spagnoli, Chiara Ticci, Anna Rubegni, Filippo Maria Santorelli

المصدر: Journal of Neurology. 270:2345-2346

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2b43fcb1a2c772a095631a6c8ff05067
https://doi.org/10.1007/s00415-023-11589-2

المؤلفون: Cristina Sancricca, Guido Primiano, Bjarne Udd, Antonio Petrucci, Serenella Servidei, Marco Savarese

المصدر: Neuromuscular Disorders. 31:532-538

مصطلحات موضوعية: 0301 basic medicine, myalgia, Pathology, medicine.medical_specialty, Exercise intolerance, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, medicine, Gracilis muscle, Myopathy, Genetics (clinical), Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, 3. Good health, 030104 developmental biology, Neurology, Respiratory failure, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9793e6204ced114841b74500846fa31
https://doi.org/10.1016/j.nmd.2021.03.001

المؤلفون: Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei

المصدر: Life, Vol 12, Iss 5, p 5 (2022)
Life

مصطلحات موضوعية: Spinal cord, Settore MED/26 - NEUROLOGIA, Space and Planetary Science, Communication, Science, MtDNA, Paleontology, Mitochondrial diseases, General Biochemistry, Genetics and Molecular Biology, Ecology, Evolution, Behavior and Systematics, Biomarkers, MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d665dbbaf45ffb7e00883a7e2efae24
http://hdl.handle.net/10807/205615

المؤلفون: Guja Astrea, Anna Rita Ferrari, Stefania Della Vecchia, Cristina Sancricca, Anna Maria Pinto, Chiara Ticci, Claudia Dosi, Federico Melani, Greta Conti, Carlo Fusco, Antonella Pini, Diego Lopergolo, Ettore Cioffi, Alessandra Tessa, Carlo Casali, Alessandro Filla, Andrea Martinuzzi, Chiara Germiniasi, Romina Romaniello, Guido Primiano, Alessandra Renieri, Jacopo Baldacci, Filippo M. Santorelli, Elena Procopio, Renzo Guerrini, Salvatore Gallone, Shalom Haggiag, Chiara Fiorillo, Andrea Mignarri, Carlotta Spagnoli, Elena Panzeri, Francesca Pochiero, Antonella Antenora, Rosa Pasquariello, Giovanna De Michele, Maria Teresa Bassi, Anna Rubegni, Serenella Servidei, Roberta Battini

مصطلحات موضوعية: Spastic gait, medicine.medical_specialty, Heterozygote, Neurology, KIF1A neuroimaging, DNA Copy Number Variations, Respiratory chain, Kinesins, Bioinformatics, Psychiatric manifestation in neurological disease, Neuroimaging, medicine, Spastic, Humans, Spastic Paraplegia, Copy-number variation, KIF1A, Muscle biopsy, medicine.diagnostic_test, business.industry, Spastic Paraplegia, Hereditary, KIF1A phenotype, CoQ10, medicine.disease, Hereditary ataxia, Hereditary spastic paraparesis, Cross-Sectional Studies, Mutation, Phenotype, Hereditary, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6bc7fd51a1a5ca9e58594df4786c74
http://hdl.handle.net/11573/1619821