المؤلفون: Matteo Gastaldi, Diego Franciotta, Mario Cirillo, Sara Prioni, Micol Avenali, Fabrizio Esposito, Chiara Reale, Valentina Leta, Enza Maria Valente, Anna Pichiecchio, Barbara Garavaglia, Roberto Eleopra, Marina Grisoli, Roberto Cilia, Luigi Romito, Maria Grazia Bruzzone, Alessandro Tessitore, Ilaria Palmieri, Giada Cuconato, Fabiana Colucci, Pierfrancesco Mitrotti, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Valentina Franco, Cristina Ghezzi, Antonio Emanuele Elia, Grazia Devigili, Nico Golfrè Andreasi, Federico Cazzaniga, Caterina Galandra, Giancarlo Germani, Gerardo Ongari, Marta Picascia, Mattia Verri, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Paolo Amami, Sylvie Piacentini, Fabio Moda

المصدر: BMJ Neurology Open, Vol 5, Iss 2 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://neurologyopen.bmj.com/content/5/2/e000535.full; https://doaj.org/toc/2632-6140

URL الوصول: https://doaj.org/article/f4439946eac245c38832074e55e2c953

المؤلفون: Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania, Elena Corradini

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Basal ganglia, Brain calcification, Calcium, Hereditary hemochromatosis, Iron, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01689-1; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/7d446107f3444e1798cdcc44b05cada3

المؤلفون: Simon J. Houtman, Hanna C. A. Lammertse, Annemiek A. van Berkel, Ganna Balagura, Elena Gardella, Jennifer R. Ramautar, Chiara Reale, Rikke S. Møller, Federico Zara, Pasquale Striano, Mala Misra-Isrie, Mieke M. van Haelst, Marc Engelen, Titia L. van Zuijen, Huibert D. Mansvelder, Matthijs Verhage, Hilgo Bruining, Klaus Linkenkaer-Hansen

المصدر: Frontiers in Physiology, Vol 12 (2021)

مصطلحات موضوعية: MUNC18-1, SNAREopathies, EEG, excitation-inhibition balance, fE/I, aperiodic exponent, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2021.775172/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/2051e28d09a04bf988039f931543cba7

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153892

الاتاحة: https://doi.org/10.6084/m9.figshare.15153892.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153886

الاتاحة: https://doi.org/10.6084/m9.figshare.15153886.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153883

الاتاحة: https://doi.org/10.6084/m9.figshare.15153883.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_4_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153895

الاتاحة: https://doi.org/10.6084/m9.figshare.15153895.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_5_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153898

الاتاحة: https://doi.org/10.6084/m9.figshare.15153898.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_6_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153901

الاتاحة: https://doi.org/10.6084/m9.figshare.15153901.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_7_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153904

الاتاحة: https://doi.org/10.6084/m9.figshare.15153904.v1

المؤلفون: Andrea Ciolfi (4021622), Aidin Foroutan (11263717), Alessandro Capuano (7554794), Lucia Pedace (8263269), Lorena Travaglini (7554791), Simone Pizzi (8263266), Marco Andreani (4683250), Evelina Miele (1307871), Federica Invernizzi (3519104), Chiara Reale (11263720), Celeste Panteghini (11108867), Maria Iascone (3597656), Marcello Niceta (4021628), Ralitza H. Gavrilova (11263723), Laura Schultz-Rogers (11263726), Emanuele Agolini (9577349), Maria Francesca Bedeschi (4526644), Paolo Prontera (11263729), Matteo Garibaldi (6177266), Serena Galosi (8982170), Vincenzo Leuzzi (500280), Paola Soliveri (7154510), Rory J. Olson (11263732), Giovanna S. Zorzi (11263735), Barbara M. Garavaglia (11263738), Marco Tartaglia (11263741), Bekim Sadikovic (56562)

مصطلحات موضوعية: Genetics, DNA methylation, Episignature, KMT2B, Dystonia 28

Relation: https://figshare.com/articles/journal_contribution/Additional_file_8_of_Childhood-onset_dystonia-causing_KMT2B_variants_result_in_a_distinctive_genomic_hypermethylation_profile/15153907

الاتاحة: https://doi.org/10.6084/m9.figshare.15153907.v1

المؤلفون: Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo

المصدر: Applied Sciences; Volume 11; Issue 17; Pages: 8096

مصطلحات موضوعية: autism spectrum disorder, targeted gene panel, rare inherited variants, family segregation, genetic makeup

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Applied Biosciences and Bioengineering; https://dx.doi.org/10.3390/app11178096

الاتاحة: https://doi.org/10.3390/app11178096

المؤلفون: Davide Tonduti, Celeste Panteghini, Anna Pichiecchio, Alice Decio, Miryam Carecchio, Chiara Reale, Isabella Moroni, Nardo Nardocci, Jaume Campistol, Angela Garcia-Cazorla, Belen Perez Duenas, Cerebral Calcification International Study Group, Luisa Chiapparini, Barbara Garavaglia, Simona Orcesi

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Cerebral calcification, Leukodystrophy, Aicardi-Goutières syndrome, Next generation sequencing, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0854-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/11b85c2596e742bb992fba6b32048603

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: Annika Danielsson, Miryam Carecchio, Laura Cif, Anne Koy, Jean-Pierre Lin, Göran Solders, Luigi Romito, Katja Lohmann, Barbara Garavaglia, Chiara Reale, Giovanna Zorzi, Nardo Nardocci, Philippe Coubes, Victoria Gonzalez, Agathe Roubertie, Gwenaelle Collod-Beroud, Göran Lind, Kristina Tedroff

المصدر: Journal of Clinical Medicine; Volume 8; Issue 12; Pages: 2163

مصطلحات موضوعية: pallidal deep brain stimulation, DYT-THAP1 dystonia, Burke Fahn Marsden Dystonia Rating Scale, long-term follow-up

وصف الملف: application/pdf

Relation: Clinical Neurology; https://dx.doi.org/10.3390/jcm8122163

الاتاحة: https://doi.org/10.3390/jcm8122163

المؤلفون: Federica Invernizzi, Celeste Panteghini, Barbara Garavaglia, Chiara Reale

المصدر: Journal of Neuroscience Research. 101:553-562

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Sexual identity, Expression (architecture), business.industry, Social environment, Disease, Personalized medicine, Y chromosome, business, Affect (psychology), Psychology, X chromosome, Developmental psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf7807d2c94ca279d064100d9360ad7
https://doi.org/10.1002/jnr.24945

المؤلفون: Luisa Chiapparini, Valeria Tiranti, Alessia Nasca, Ivano Di Meo, Silvia Fenu, Chiara Cavestro, Celeste Panteghini, Ettore Salsano, Barbara Garavaglia, Davide Pareyson, Chiara Reale

المصدر: Neurogenetics

مصطلحات موضوعية: Adult, Gene isoform, Ataxia, Short Communication, PLAN, Neuroaxonal Dystrophies, Biology, Nervous System Malformations, PLA2G6, Group VI Phospholipases A2, Cellular and Molecular Neuroscience, Exon, Early-onset Parkinson’s disease, Genetics, medicine, Humans, Coding region, Age of Onset, Cognitive decline, Genetics (clinical), NBIA, Parkinsonism, Neurodegeneration, Brain, Neurodegenerative Diseases, Parkinson Disease, Deep intronic variant, medicine.disease, Phenotype, Mutation, Female, Cerebellar atrophy, Atrophy, medicine.symptom, Pseudo-exon activation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1547e934a639db2d1a99fe6c859d2ed9
https://doi.org/10.1007/s10048-021-00667-0

المؤلفون: Pia Gellert, Guido Rubboli, Elena Gardella, Katrine M. Johannesen, Claudia M Bonardi, Gaetan Lesca, Carlo Alberto Tassinari, Cyril Mignot, José M. Serratosa, Chiara Reale, Raffaella Moretti, Rikke S. Møller, Gabrielle Rudolf, Beatriz G. Giráldez

المصدر: Bonardi, C M, Mignot, C, Serratosa, J M, Giraldez, B G, Moretti, R, Rudolf, G, Reale, C, Gellert, P M, Johannesen, K M, Lesca, G, Tassinari, C A, Gardella, E, Møller, R S & Rubboli, G 2020, ' Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES) ', Clinical Neurophysiology, vol. 131, no. 5, pp. 1030-1039 . https://doi.org/10.1016/j.clinph.2020.01.020

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Encephalopathy, Status epilepticus, Electroencephalography, Sleep, Slow-Wave, Non-rapid eye movement sleep, 050105 experimental psychology, Young Adult, 03 medical and health sciences, Epilepsy, Status Epilepticus, 0302 clinical medicine, Physiology (medical), ESES, Speech/oro-motor dyspraxia, medicine, Humans, 0501 psychology and cognitive sciences, Language disorder, Child, X-linked intellectual disabilities, Adaptor Proteins, Signal Transducing, Brain Diseases, medicine.diagnostic_test, business.industry, CNKSR2, 05 social sciences, Genetic Variation, Cognition, medicine.disease, Magnetic Resonance Imaging, Sensory Systems, Neurology, Child, Preschool, Female, Wakefulness, Neurology (clinical), medicine.symptom, Spike-wave-index (SWI), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03917755eb63892ed7e12758201d5346
https://doi.org/10.1016/j.clinph.2020.01.020

المؤلفون: Miryam Carecchio, Giovanna Zorzi, Vincenzo Leuzzi, Manju A. Kurian, Nardo Nardocci, Federica Invernizzi, Anna Rita Bentivoglio, Federica Zibordi, Agnel Praveen Joseph, Maya Topf, Luigi Romito, Niccolo E. Mencacci, Steven J. Lubbe, Chiara Reale, Carla Piano, Celeste Panteghini, Floriano Girotti, Serena Galosi, Barbara Garavaglia, Benedetto Morana, Paolo Morana, Paulina Gonzalez-Latapi

المصدر: Movement Disorders. 34:1516-1527

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, childhood, DBS, dystonia, KMT2B, WES, Deep Brain Stimulation, Natural history of disease, Short stature, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, medicine, Humans, Child, Aged, Dystonia, business.industry, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Penetrance, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Neurology, Dystonic Disorders, Mutation, Cohort, Female, Neurology (clinical), medicine.symptom, business, Asymptomatic carrier, 030217 neurology & neurosurgery, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aa24b7b74bec3d636ebefbc921d5c13
https://doi.org/10.1002/mds.27771

المؤلفون: Aidin Foroutan, Bekim Sadikovic, Celeste Panteghini, Simone Pizzi, Evelina Miele, Federica Invernizzi, Maria Iascone, Paolo Prontera, Lucia Pedace, Vincenzo Leuzzi, Maria Francesca Bedeschi, Giovanna Zorzi, Marco Tartaglia, Rory J. Olson, Chiara Reale, Marcello Niceta, Laura Schultz-Rogers, Paola Soliveri, Andrea Ciolfi, Matteo Garibaldi, Alessandro Capuano, Emanuele Agolini, Ralitza H. Gavrilova, Barbara Garavaglia, Marco Andreani, Serena Galosi, Lorena Travaglini

المصدر: Paediatrics Publications
Clinical Epigenetics

مصطلحات موضوعية: Adult, Male, Adolescent, Biology, Epigenesis, Genetic, Frameshift mutation, Cohort Studies, Genetics, medicine, Humans, Epigenetics, Child, Episignature, Molecular Biology, Genetics (clinical), Dystonia, DNA methylation, Genetic heterogeneity, Dystonia 28, KMT2B, Research, Age Factors, Infant, Newborn, Genetic Variation, Infant, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Human genetics, Phenotype, Dystonic Disorders, Child, Preschool, Mutation, Female, Hypermethylation Profile, Haploinsufficiency, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5a5fff3a0c65195efd70cd21ad8c892
https://doi.org/10.1186/s13148-021-01145-y