المؤلفون: Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1158-1164 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8c53bf3251f34d1f981917f03f631b36

المؤلفون: Cristina Cheroni, Lorena Donnici, Alessio Aghemo, Francesca Balistreri, Annalisa Bianco, Valeria Zanoni, Massimiliano Pagani, Roberta Soffredini, Roberta D'Ambrosio, Maria Grazia Rumi, Massimo Colombo, Sergio Abrignani, Petra Neddermann, Raffaele De Francesco

المصدر: PLoS ONE, Vol 10, Iss 9, p e0138546 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4583497?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/903b408f76e049e38e84d2a4a80f3a45

المؤلفون: Paola Saveri, Stefania Magri, Emanuela Maderna, Francesca Balistreri, Raffaella Lombardi, Claudia Ciano, Fabio Moda, Barbara Garavaglia, Chiara Reale, Giuseppe Lauria Pinter, Franco Taroni, Davide Pareyson, Chiara Pisciotta

المصدر: European Journal of Neurology. 29:2056-2065

مصطلحات موضوعية: DNA-Binding Proteins, Phenotype, Neurology, Charcot-Marie-Tooth Disease, Homozygote, Mutation, alpha-Synuclein, Humans, RNA, Messenger, Neurology (clinical), HSP40 Heat-Shock Proteins, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7079e99cb137de4e694efcc27683fbd5
https://doi.org/10.1111/ene.15326

المؤلفون: Davide Pareyson, Stefania Corti, Franco Taroni, Dario Ronchi, Francesca Balistreri, Giulia Manenti, Nereo Bresolin, Chiara Pisciotta, Paola Saveri, Daniele Velardo, Megi Meneri, Elena Abati, Giacomo P. Comi, Stefania Magri

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1158-1164 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, Prioritization, animal structures, In silico, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, medicine.disease_cause, 03 medical and health sciences, Tooth disease, 0302 clinical medicine, Heat shock protein, Medicine, RC346-429, Gene, Genetics, Mutation, Case Study, business.industry, General Neuroscience, 030104 developmental biology, Neurology. Diseases of the nervous system, Neurology (clinical), Dominant inheritance, business, 030217 neurology & neurosurgery, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f04b19779e141dad3669d8222102e8a
https://doi.org/10.1002/acn3.51364

المؤلفون: Francesca Balistreri, Silvia Baratta, Isabella Moroni, Federica Rachele Danti, Franco Taroni, Emanuela Pagliano, Stefania Magri, Claudia Ciano

المصدر: Journal of the Peripheral Nervous System. 25:429-432

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Genetic heterogeneity, business.industry, General Neuroscience, Cranial nerves, Facial weakness, Disease, Bilateral vocal cord paralysis, medicine.disease, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Respiratory function, Neurology (clinical), Vocal cord paralysis, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::98efd5322a3af73bd5f1554efa85c79d
https://doi.org/10.1111/jns.12410

المؤلفون: Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca

المساهمون: Caporali L., Magri S., Legati A., Del Dotto V., Tagliavini F., Balistreri F., Nasca A., La Morgia C., Carbonelli M., Valentino M.L., Lamantea E., Baratta S., Schols L., Schule R., Barboni P., Cascavilla M.L., Maresca A., Capristo M., Ardissone A., Pareyson D., Cammarata G., Melzi L., Zeviani M., Peverelli L., Lamperti C., Marzoli S.B., Fang M., Synofzik M., Ghezzi D., Carelli V., Taroni F.

المصدر: Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723

مصطلحات موضوعية: Male, 0301 basic medicine, DOA, Gene mutation, medicine.disease_cause, ATP-Dependent Proteases, ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Aged, Child, Female, GTP Phosphohydrolases, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Optic Atrophy, Optic Nerve Diseases, Pedigree, Whole Exome Sequencing, Young Adult, OPA1, genetics [Optic Atrophy], Optic neuropathy, 0302 clinical medicine, genetics [ATPases Associated with Diverse Cellular Activities], Research Articles, Exome sequencing, Genetics, genetics [Optic Nerve Diseases], Neurology, Spinocerebellar ataxia, medicine.symptom, Research Article, genetics [GTP Phosphohydrolases], Spastic gait, Ataxia, Biology, SCA28, 03 medical and health sciences, Atrophy, Exome Sequencing, medicine, ddc:610, AFG3L2, medicine.disease, eye diseases, optic neuropathy, 030104 developmental biology, genetics [ATP-Dependent Proteases], Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c2c378c78c80511b96cd807a4395b2
https://doi.org/10.1002/ana.25723

المؤلفون: Erika Schirinzi, Stefano Tozza, Fiore Manganelli, Francesca Balistreri, Elena Maria Pennisi, Daniele Severi, Stefania Magri, Franco Taroni, Chiara Pisciotta, Gabriele Siciliano, Lucio Santoro, Giulia Ricci

المساهمون: Tozza, Stefano, Magri, Stefania, Pennisi, Elena Maria, Schirinzi, Erika, Pisciotta, Chiara, Balistreri, Francesca, Severi, Daniele, Ricci, Giulia, Siciliano, Gabriele, Taroni, Franco, Santoro, Lucio, Manganelli, Fiore

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pes cavus, EGR2-neuropathies, Unmyelinated nerve fiber, medicine.disease_cause, Charcot-Marie-tooth disease, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Missense mutation, axonal phenotype, next-generation sequencing, Mutation, Neuroscience (all), business.industry, General Neuroscience, Deep Tendon Reflex, medicine.disease, Phenotype, medicine.anatomical_structure, EGR2-neuropathie, 030220 oncology & carcinogenesis, Peripheral nervous system, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e8c77969fe3a4693700a313d1a87b5
http://hdl.handle.net/11588/751493