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1دورية أكاديمية
المؤلفون: Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, Vincenzo Silani
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: C9orf72, GGGGCC hexanucleotide repeat, amyotrophic lateral sclerosis, frontotemporal dementia, allele distribution, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: hereditary myopathies, UBR4, HSPG2, episodic ataxia, genetic modifiers, genetic testing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 11, p 5912 (2022)
مصطلحات موضوعية: KBG syndrome, ANKRD11 variations, diagnostic flow chart, ANKRD11 gene expression analysis, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
المصدر: Life, Vol 12, Iss 3, p 402 (2022)
مصطلحات موضوعية: Charcot–Marie–Tooth (CMT) disease, neuropathy, genetic, phenotype, Science
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)
مصطلحات موضوعية: TTR, CMT2, Polyneuropathy, Medicine
وصف الملف: electronic resource
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7
المؤلفون: Alessandro Geroldi, Lucia Trevisan, Andrea Gaudio, Fabio Gotta, Serena Patrone, Paola Origone, Marina Grandis, Chiara Gemelli, Angelo Schenone, Andrea Accogli, Federico Zara, Paola Mandich, Emilia Bellone
المصدر: Parkinsonism & Related Disorders. 102:54-56
مصطلحات موضوعية: Dystonia, Optic Atrophy, Deaf-Blind Disorders, Neurology, Intellectual Disability, Humans, Neurology (clinical), Geriatrics and Gerontology
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8
المؤلفون: Paola Origone, Federica Ruscitti, Giulia Rosti, Annalia Cianflone, Paola Mandich, Anna Pichiecchio, Simona Viglio, Maria Iascone, Fabio Gotta, Lucia Trevisan, Alessandro Geroldi
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, COL3A1, QH426-470, Clinical Reports, Genetics, medicine, Humans, Heritable connective tissue disorder, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Mitral regurgitation, Clinical Report, medicine.diagnostic_test, business.industry, medicine.disease, Pathogenicity, vEDS, Collagen Type III, Phenotype, Increased risk, medicine.anatomical_structure, Ehlers–Danlos syndrome, NGS, Mutation, Skin biopsy, Ehlers-Danlos Syndrome, business, Novel mutation, musculoskeletal involvement, Artery
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9
المؤلفون: Paola Mandich, Paola Origone, Emilia Bellone, Giuseppina Fugazza, Alessandro Geroldi, Federica Morani, Anna Rubegni, Claudia Nesti, Filippo M. Santorelli, Lucia Trevisan, Sabrina Fabbri, Fabio Gotta, Merit Lamp
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Ataxia, Genetic counseling, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutation, Missense, Gene mutation, Compound heterozygosity, sensorineural hearing loss, Mitochondrial Proteins, 03 medical and health sciences, Sensory ataxia, Genetics, medicine, Humans, Amino Acid Sequence, Twinkle, Genetics (clinical), 030304 developmental biology, Neuropathy, ovarian dysgenesis, Perrault syndrome, sensorineural hearing loss, Twinkle, TWNK, 0303 health sciences, ovarian dysgenesis, Perrault syndrome, medicine.diagnostic_test, business.industry, neuropathy, TWNK, 030305 genetics & heredity, DNA Helicases, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Neuropathy, Peripheral neuropathy, Mutation, Sensorineural hearing loss, Female, Pure tone audiometry, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b6a1cb386ec34001553053478bea4c
http://hdl.handle.net/11567/1006329 -
10
المؤلفون: Fabio Gotta, Paola Mandich, Fiore Manganelli, Alessandro Geroldi, Emilia Bellone, Francesca Sanguineri, Claudia Caponnetto, Corrado Cabona, Lucia Trevisan, Grazia Devigili, Paola Origone, Merit Lamp
المصدر: Neurodegenerative Diseases. 18:310-314
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Mutation, business.industry, SOD1, Disease, Motor neuron, medicine.disease, medicine.disease_cause, TARDBP, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Neurology, C9orf72, Internal medicine, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, 030217 neurology & neurosurgery, Frontotemporal dementia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3fde2b66a86e92e6d6962017abfefb0
https://doi.org/10.1159/000497820