المؤلفون: Lorenzo Maggi, Sara Gibertini, Eliana Iannibelli, Annamaria Gallone, Silvia Bonanno, Daniele Cazzato, Simonetta Gerevini, Marco Moscatelli, Flavia Blasevich, Giorgia Riolo, Renato Mantegazza, Alessandra Ruggieri

المصدر: Journal of Neurology.

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a7b9a52d34a2ad92fe2285790f40d63Test
https://doi.org/10.1007/s00415-023-11729-8Test

المؤلفون: Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Anthony Behin, Johanna Palmio, Manu Jokela, Jan L De Bleecker, Marianne de Visser, Anneke J van der Kooi, Leroy ten Dam, Cristina Domínguez González, Lorenzo Maggi, Annamaria Gallone, Anna Kostera-Pruszczyk, Anna Macias, Anna Łusakowska, Velina Nedkova, Montse Olive, Rodrigo Álvarez-Velasco, Julia Wanschitz, Carmen Paradas, Fabiola Mavillard, Giorgia Querin, Gorka Fernández-Eulate, Ros Quinlivan, Maggie C Walter, Christophe E Depuydt, Bjarne Udd, John Vissing, Benedikt Schoser, Kristl G Claeys

المصدر: Brain.

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::534560b061be62aae6c0816238239f34Test
https://doi.org/10.1093/brain/awad088Test

المؤلفون: Annamaria, Gallone, Federica, Mazzi, Silvia, Bonanno, Riccardo, Zanin, Marco, Moscatelli, Domenico, Aquino, Lorenzo, Maggi

المصدر: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 41(2)

مصطلحات موضوعية: Adult, Muscular Atrophy, Spinal, Young Adult, Disease Progression, Oligonucleotides, Humans, Longitudinal Studies, Middle Aged, Spinal Muscular Atrophies of Childhood, Muscle, Skeletal, Magnetic Resonance Imaging, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f264ecc8805fdfed3ba865c36fc9b35bTest
https://pubmed.ncbi.nlm.nih.gov/35832502Test

المؤلفون: Annamaria Gallone, Laura Paris, Benedetta Storti, Camillo Foresti

المصدر: Mov Disord Clin Pract

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Clinical Vignettes, Rare case, Macroglobulinemia, Medicine, Neurology (clinical), business, Dermatology, Palatal-lingual

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c641e711939bd35d3b468cb896863715Test
https://europepmc.org/articles/PMC8287199Test/

المؤلفون: Isabella Moroni, Marcello Esposito, Annamaria Gallone, Francesco Logullo, Federico Verde, Jean-François Desaphy, Luciano Merlini, Antonella Pini, Giulia Ricci, Francesca Torri, Alessandra Ariatti, Paola Tonin, Massimiliano Filosto, Silvia de Pasqua, Rocco Liguori, Pia Bernasconi, Renato Mantegazza, Lorenzo Maggi, Gabriele Siciliano, Eleonora Canioni, Raffaella Brugnoni, Vincenzo Silani, Caterina Mariotti, Elena Pegoraro, Paola Imbrici, Lucia Ruggiero, Pietro Riguzzi, Cristina Petrelli

المساهمون: Brugnoni R., Maggi L., Canioni E., Verde F., Gallone A., Ariatti A., Filosto M., Petrelli C., Logullo F.O., Esposito M., Ruggiero L., Tonin P., Riguzzi P., Pegoraro E., Torri F., Ricci G., Siciliano G., Silani V., Merlini L., De Pasqua S., Liguori R., Pini A., Mariotti C., Moroni I., Imbrici P., Desaphy J.-F., Mantegazza R., Bernasconi P., Brugnoni, R., Maggi, L., Canioni, E., Verde, F., Gallone, A., Ariatti, A., Filosto, M., Petrelli, C., Logullo, F. O., Esposito, M., Ruggiero, L., Tonin, P., Riguzzi, P., Pegoraro, E., Torri, F., Ricci, G., Siciliano, G., Silani, V., Merlini, L., De Pasqua, S., Liguori, R., Pini, A., Mariotti, C., Moroni, I., Imbrici, P., Desaphy, J. -F., Mantegazza, R., Bernasconi, P.

المصدر: Neuromuscular disorders : NMD. 31(4)

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Chloride Channel, Skeletal muscle channelopathies, Cohort Studies, 0302 clinical medicine, Retrospective Studie, 80 and over, NAV1.4 Voltage-Gated Sodium Channel, Child, Genetics (clinical), Aged, 80 and over, SCN4A gene, Skeletal muscle channelopathie, High-Throughput Nucleotide Sequencing, Skeletal, CLCN1 gene, Middle Aged, medicine.anatomical_structure, Next-generation sequencing, Non-dystrophic myotonias, Periodic paralyses, Adolescent, Adult, Aged, Channelopathies, Chloride Channels, Female, Humans, Italy, Muscle, Skeletal, Mutation, Paralyses, Familial Periodic, Retrospective Studies, Young Adult, Neurology, Muscle, Human, Single gene, Computational biology, Biology, DNA sequencing, Channelopathie, 03 medical and health sciences, Paralyses, medicine, Gene, Periodic paralyse, Non-dystrophic myotonia, CLCN1, Heterogeneous group, Familial Periodic, Skeletal muscle, Large cohort, 030104 developmental biology, Pediatrics, Perinatology and Child Health, biology.protein, Neurology (clinical), Cohort Studie, 030217 neurology & neurosurgery

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f122ef36a0b70cb6e64f6392b91a9bTest
https://pubmed.ncbi.nlm.nih.gov/33573884Test

المؤلفون: Giovanni De Filippis, Annamaria Gallone, Matteo Paganelli, Brizio Tamborrino, I Drago, Pietro Apostoli, Leonardo Soleo, Rossana Rotondi, Piero Lovreglio

مصطلحات موضوعية: Adult, Male, Antimony, Occupational risk, Health, Toxicology and Mutagenesis, chemistry.chemical_element, 010501 environmental sciences, Toxicology, Risk Assessment, 01 natural sciences, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Occupational Exposure, Environmental health, Humans, Medicine, Toxicology and Mutagenesis, Arsenic, 0105 earth and related environmental sciences, General Environmental Science, arsenic, lead, speciation, 2300, Public Health, Environmental and Occupational Health, business.industry, Zinc protoporphyrin, Environmental and Occupational Health, Middle Aged, 030210 environmental & occupational health, Italy, chemistry, Health, Occupational exposure, Public Health, business, Environmental Monitoring

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18da4b802bd2b349fa46d5bf044423c1Test
http://hdl.handle.net/11379/500439Test