المؤلفون: Laura Canafoglia, Federica Zibordi, Francesco Deleo, Gionata Strigaro, Claudia Varrasi, Claudia Ciaccio, Nardo Nardocci, Ferruccio Panzica, Silvana Franceschetti, Francesca L. Sciacca

المصدر: European Journal of Paediatric Neurology. 44:25-27

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b350e6dfe625a88f10bfd111606f53b5
https://doi.org/10.1016/j.ejpn.2023.03.001

المؤلفون: Nuovo S., Bacigalupo I., Ginevrino M., Battini R., Bertini E., Borgatti R., Casella A., Micalizzi A., Nardella M., Romaniello R., Serpieri V., Zanni G., Valente E. M., Vanacore N, Patrizia Accorsi, Enrico Alfei, Elena Andreucci, Gianluigi Ardissino, Emanuela Avola, Rita Barone, Francesco Benedicenti, Stefania Bigoni, Loredana Boccone, Maria T. Bonati, Stefania Bova, Marilena Briguglio, Silvana Briuglia, Olga Calabrese, Gaetano Cantalupo, Gianluca Caridi, Monica Cazzagon, Maria E. Celle, Maria R. Cilio, Giangennaro Coppola, Adele D’Amico, Stefano D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno Dallapiccola, Raffaella Devescovi, Maria Cristina Digilio, Ilaria Donati, Maria A. Donati, Maria T. Dotti, Francesco Emma, Antonella Fabretto, Elisa Fazzi, Alessandra Ferlini, Alessandro Ferraris, Giovanni Battista Ferrero, Anna Ficcadenti, Simona Fiori, Rita Fischetto, Elena Freri, Livia Garavelli, Mattia Gentile, Lucio Giordano, Donatella Greco, Claudia Izzi, Vincenzo Leuzzi, Elisabetta Lucarelli, Silvia Majore, Maria M. Mancardi, Francesca Mari, Giuseppina Marra, Laura Mazzanti, Daniela Melis, Emanuele Micaglio, Marisol Mirabelli-Badenier, Isabella Moroni, Nardo Nardocci, Margherita Nosadini, Simona Orcesi, Giovanni Pagani, Chiara Pantaleoni, Francesco Papadia Papadia, Pasquale Parisi, Maria Grazia Patricelli, Cinzia Peruzzi, Alice Pessagno, Maria Piccione, Antonella Pini, Tiziana Pisano, Livia Pisciotta, Marzia Pollazzon, Francesca Rivieri, Alfonso Romano, Corrado Romano, Leonardo Salviati, Carmelo Damiano Salpietro, Margherita Santucci, Emanuela Scarano, Barbara Scelsa, Alberto Sensi, Marco Seri, Sabrina Signorini, Margherita Silengo, Alessandro Simonati, Fabio Sirchia, Luigina Spaccini, Franco Stanzial, Gilda Stringini, Eva Trevisson, Antonella Trivelli, Vera Uliana, Graziella Uziel, Gessica Vasco, Marina Vascotto, Giuseppina Vitiello, Federica Zibordi

المساهمون: S., Nuovo, I., Bacigalupo, M., Ginevrino, R., Battini, E., Bertini, R., Borgatti, A., Casella, A., Micalizzi, M., Nardella, R., Romaniello, V., Serpieri, G., Zanni, E. M., Valente, N, Vanacore, Accorsi, Patrizia, Alfei, Enrico, Andreucci, Elena, Ardissino, Gianluigi, Avola, Emanuela, Barone, Rita, Benedicenti, Francesco, Bigoni, Stefania, Boccone, Loredana, Bonati, Maria T., Bova, Stefania, Briguglio, Marilena, Briuglia, Silvana, Calabrese, Olga, Cantalupo, Gaetano, Caridi, Gianluca, Cazzagon, Monica, Celle, Maria E., Cilio, Maria R., Coppola, Giangennaro, D’Amico, Adele, D’Arrigo, Stefano, De Brasi, Daniele, Fulvia de Leva, Maria, Del Giudice, Ennio, Carmela Di Giacomo, Marilena, Lucia Di Sabato, Maria, Dallapiccola, Bruno, Devescovi, Raffaella, Cristina Digilio, Maria, Donati, Ilaria, Donati, Maria A., Dotti, Maria T., Emma, Francesco, Fabretto, Antonella, Fazzi, Elisa, Ferlini, Alessandra, Ferraris, Alessandro, Battista Ferrero, Giovanni, Ficcadenti, Anna, Fiori, Simona, Fischetto, Rita, Freri, Elena, Garavelli, Livia, Gentile, Mattia, Giordano, Lucio, Greco, Donatella, Izzi, Claudia, Leuzzi, Vincenzo, Lucarelli, Elisabetta, Majore, Silvia, Mancardi, Maria M., Mari, Francesca, Marra, Giuseppina, Mazzanti, Laura, Melis, Daniela, Micaglio, Emanuele, Mirabelli-Badenier, Marisol, Moroni, Isabella, Nardocci, Nardo, Nosadini, Margherita, Orcesi, Simona, Pagani, Giovanni, Pantaleoni, Chiara, Papadia Papadia, Francesco, Parisi, Pasquale, Grazia Patricelli, Maria, Peruzzi, Cinzia, Pessagno, Alice, Piccione, Maria, Pini, Antonella, Pisano, Tiziana, Pisciotta, Livia, Pollazzon, Marzia, Rivieri, Francesca, Romano, Alfonso, Romano, Corrado, Salviati, Leonardo, SALPIETRO DAMIANO, Carmelo, Santucci, Margherita, Scarano, Emanuela, Scelsa, Barbara, Sensi, Alberto, Seri, Marco, Signorini, Sabrina, Silengo, Margherita

مصطلحات موضوعية: CI=confidence interval, IQR=interquartile range, JS=Joubert syndrome, MTS=molar tooth sign, NGS=next-generation sequencing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31969461; info:eu-repo/semantics/altIdentifier/wos/WOS:000530853800012; volume:94; issue:8; firstpage:e797; lastpage:e801; numberofpages:5; journal:NEUROLOGY; https://hdl.handle.net/11570/3159498; https://doi.org/10.1212/WNL.0000000000008996

الاتاحة: https://hdl.handle.net/11570/3159498
https://doi.org/10.1212/WNL.0000000000008996

المؤلفون: Francesca Tinelli, Sara Nava, Francesco Arioli, Gloria Bedini, Emma Scelzo, Daniela Lisini, Giuseppe Faragò, Andrea Gioppo, Elisa F. Ciceri, Francesco Acerbi, Paolo Ferroli, Ignazio G. Vetrano, Silvia Esposito, Veronica Saletti, Chiara Pantaleoni, Federica Zibordi, Nardo Nardocci, Maria Luisa Zedde, Alessandro Pezzini, Vincenzo Di Lazzaro, Fioravante Capone, Maria Luisa Dell’Acqua, Peter Vajkoczy, Elisabeth Tournier-Lasserve, Eugenio A. Parati, Anna Bersano, Laura Gatti

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 16; Pages: 5763

مصطلحات موضوعية: neovascularization, Moyamoya angiopathy, endothelial progenitor cells, RNF213

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Neurobiology; https://dx.doi.org/10.3390/ijms21165763

الاتاحة: https://doi.org/10.3390/ijms21165763

المؤلفون: Monique de Waart, Anina Enderli, Ferdy S van Geest, Adri van der Walt, Krishna Chatterjee, Sjoerd A A van den Berg, Laura Paone, Patricia Crock, Anne-Marie van Wermeskerken, Lilla Szeifert, Francesco Porta, D Barca, Carla Moran, Katalin E Müller, Alice Dica, Athanasia Stoupa, Felipe Monti Lora, Dana Craiu, Hans van Toor, Peter Christian, Amnon Zung, Stefan Groeneweg, W. Edward Visser, Ronald van der Wal, Régis Coutant, Luigi Garibaldi, Marco Spada, Joel Vanderniet, Jolanta Wierzba, Tony Huynh, Greta Lyons, Annette Hackenberg, Gerarda Cappuccio, Serap Turan, Michaela Linder-Lucht, Jan Fairchild, Peter J Simm, Yolanda B. de Rijke, Enrico Bertini, Amy Lawson-Yuen, Erica L T van den Akker, Bianka Heinrich, Nicola Brunetti-Pierri, Michel Polak, Cheyenne Dewey, Rachana Dubey, Christina Reinauer, Praveen G. Paul, Belinda George, Doris Brunner, Robin P. Peeters, Paul Dimitri, Marco Cappa, Anna Simon, Federica Zibordi, Tuba Seven Menevse, Jonathan Gallichan, Anna Kłosowska, Rowen Seckold, Iuliu Bacos, Davide Tonduti, Alexander D Chesover

المساهمون: Internal Medicine, Pediatrics, Clinical Chemistry, van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Dori, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régi, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Han, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward

المصدر: The Journal of clinical endocrinology and metabolism, 107(3), e1136-e1147. Endocrine Society

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, Endocrinology, Clinical endpoint, MCT8 Deficiency, Child, Symporters, Thyroid, Middle Aged, Muscular Atrophy, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Muscle Hypotonia, Triiodothyronine, Female, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Context (language use), AHDS, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Heart rate, medicine, Humans, Allan-Herndon-Dudley syndrome, Aged, Retrospective Studies, Creatinine, Allan–Herndon–Dudley syndrome, T3 analogue, business.industry, Biochemistry (medical), Infant, Retrospective cohort study, medicine.disease, chemistry, Mutation, Mental Retardation, X-Linked, business, thyromimetic drug, Follow-Up Studies, Hormone

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0a15e7345180c83808e6c9b21409d6
https://doi.org/10.1210/clinem/dgab750

المؤلفون: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska

المساهمون: Internal Medicine, Pediatrics, Neurology, Radiology & Nuclear Medicine, Cardiology, Intensive Care, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Pediatric surgery, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, Nicola, Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., Degoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J., Lyons, G., Malikova, J., Mancilla, E. E., Mcgowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., van der Spek, J., Stals, M. A. M., Stoupa, A., Subramanian, G. M., Tonduti, D., Turan, S., den Uil, C. A., Vanderniet, J., van der Walt, A., Wemeau, J. -L., Wierzba, J., de Wit, M. -C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, W. E.

المصدر: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BV

مصطلحات موضوعية: Male, Pediatrics, Endocrinology, Diabetes and Metabolism, Bayley Scales of Infant Development, Monocarboxylic Acid Transporter, 0302 clinical medicine, Endocrinology, Retrospective Studie, Neurodevelopmental Disorder, Medicine, 030212 general & internal medicine, Child, Thyroid hormone transport, Symporters, Mental Disorders, Hazard ratio, SDG 10 - Reduced Inequalities, Middle Aged, Prognosis, Survival Rate, International Agencie, Child, Preschool, Cohort, Mental Disorder, Female, Disease characteristics, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Prognosi, HEART-RATE, 030209 endocrinology & metabolism, Sudden death, Follow-Up Studie, MONOCARBOXYLATE TRANSPORTER-8, Young Adult, 03 medical and health sciences, HORMONE, Muscular Diseases, Internal Medicine, Humans, PSYCHOMOTOR RETARDATION, Survival rate, Aged, Retrospective Studies, Muscular Disease, business.industry, MUTATIONS, Symporter, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, International Agencies, Retrospective cohort study, Biomarker, Neurodevelopmental Disorders, Mutation, business, Biomarkers, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1c046b02fa1870d7b9cb9b1d6aed73
https://pure.eur.nl/en/publications/15af8d51-7430-4e63-bbce-74824120e8fa

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: Elise Riquin, Federica Zibordi, Zahir Amoura, Priscille Gerardin, Bertrand Olliac, Marie Raffin, Nicolas Bodeau, Nardo Nardocci, Tiziana Granata, Xavier Benarous, Vladimir Ferrafiat, Elena Freri, Angèle Consoli, Julien Haroche, Sylvie Viaux, Jean Xavier, David Cohen

المصدر: Schizophrenia Research. 200:68-76

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Catatonia, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Child and adolescent psychiatry, medicine, Humans, Prospective Studies, Child, Biological Psychiatry, Retrospective Studies, Immunosuppressive treatment, Receiver operating characteristic, business.industry, medicine.disease, Causality, 030227 psychiatry, Psychiatry and Mental health, Specific antibody, ROC Curve, Female, Autoimmune condition, business, Stepwise approach, Algorithm, Algorithms, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff571c49c4a0a3e1e2f939c598397a36
https://doi.org/10.1016/j.schres.2017.06.036

المؤلفون: Chiara Pantaleoni, Giovanna Zorzi, Vita Girgenti, Stefania Bigoni, Marica Eoli, Tiziana Granata, Margherita Estienne, Isabella Moroni, Francesca L. Sciacca, Veronica Saletti, Federica Zibordi, Stefano D'Arrigo, Elena Freri, Bruna Molteni, Nardo Nardocci, Enrico Alfei, Barbara Buldrini, Silvia Esposito, Donatella Milani, Anna Ardissone, Ambra Rizzo

المساهمون: Rizzo, A, Alfei, E, Zibordi, F, Saletti, V, Zorzi, G, Freri, E, Estienne, M, Girgenti, V, D'Arrigo, S, Esposito, S, Buldrini, B, Moroni, I, Milani, D, Granata, T, Ardissone, A, Eoli, M, Molteni, B, Bigoni, S, Pantaleoni, C, Nardocci, N, Sciacca, F

المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:557-562

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, RNA, Untranslated, Adolescent, DNA Copy Number Variations, Cell Adhesion Molecules, Neuronal, CNV, Nerve Tissue Proteins, Locus (genetics), Disease, Biology, Cohort Studies, NRXN1, 03 medical and health sciences, Cellular and Molecular Neuroscience, Humans, array CGH, Coding region, Genetic Predisposition to Disease, long noncoding RNA, Copy-number variation, Child, Neural Cell Adhesion Molecules, Gene, Genetics (clinical), Genetics, Comparative Genomic Hybridization, Mental Disorders, Calcium-Binding Proteins, Middle Aged, Non-coding RNA, Penetrance, Psychiatry and Mental health, Phenotype, 030104 developmental biology, Case-Control Studies, Child, Preschool, Chromosomes, Human, Pair 2, Female, RNA, Long Noncoding, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69f59de3296e1086f722c517efa7c7e3
https://doi.org/10.1002/ajmg.b.32649

المؤلفون: Sara Matricardi, Francesca Andreetta, Simona Binelli, Federica Zibordi, Tiziana Granata, Elena Freri, Nardo Nardocci, Francesca Ragona

المصدر: European Journal of Paediatric Neurology. 22:301-307

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Movement disorders, Adolescent, Catatonia, Perseveration, Disease, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Retrospective Studies, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Autoimmune encephalitis, Movement Disorders, business.industry, Retrospective cohort study, General Medicine, medicine.disease, 030227 psychiatry, Dyskinesia, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Encephalitis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7fcf9e571dd07ad87ca7793e4c29572
https://doi.org/10.1016/j.ejpn.2018.01.012

المؤلفون: Federica Zibordi, Giovanna Zorzi, Nardo Nardocci, Miryam Carecchio

المصدر: European Journal of Paediatric Neurology. 22:316-320

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Obsessive-compulsive disorders, Childhood acute neuropsychiatric symptoms (CANS), Pediatric acute-onset neuropsychiatric syndrome (PANS), Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS), Autoimmune Diseases, Child, Female, Humans, Infection, Mental Disorders, Syndrome, Infections, Behavioral or, 03 medical and health sciences, Broad spectrum, 0302 clinical medicine, Acute onset, PANDAS, medicine, business.industry, Disease mechanisms, General Medicine, medicine.disease, Obsessive compulsive symptoms, 030227 psychiatry, Pediatrics, Perinatology and Child Health, Abrupt onset, Etiology, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95306ff3ba6f2a1ad960405495f594ae
https://doi.org/10.1016/j.ejpn.2018.01.011

المؤلفون: Federica Zibordi, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia

المصدر: European Journal of Paediatric Neurology. 22:238-244

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Deep brain stimulation, Adolescent, Pediatric onset, Deep Brain Stimulation, medicine.medical_treatment, Disease, 03 medical and health sciences, 0302 clinical medicine, Genetic, ​Dystonia, medicine, Humans, Child, Severe disability, Pediatric, Dystonia, business.industry, Incidence (epidemiology), Female, General Medicine, medicine.disease, Penetrance, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55c97a30e90682078f1da1bbeec66401
https://doi.org/10.1016/j.ejpn.2018.01.006

المؤلفون: Francesco Arioli, Marialuisa Zedde, Maria Luisa Dell'Acqua, Eugenio Parati, Gloria Bedini, Elisa Ciceri, Francesca Tinelli, Giuseppe Faragò, Elisabeth Tournier-Lasserve, Fioravante Capone, Nardo Nardocci, Daniela Lisini, Paolo Ferroli, Emma Scelzo, Silvia Esposito, Anna Bersano, Sara Nava, Peter Vajkoczy, Vincenzo Di Lazzaro, Alessandro Pezzini, Veronica Saletti, Laura Gatti, Federica Zibordi, Chiara Pantaleoni, Francesco Acerbi, Andrea Gioppo, Ignazio G. Vetrano

المصدر: International Journal of Molecular Sciences
Volume 21
Issue 16
International Journal of Molecular Sciences, Vol 21, Iss 5763, p 5763 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Cell Count, lcsh:Chemistry, Neovascularization, 0302 clinical medicine, Settore BIO/10 - Biochimica, Medicine, Child, lcsh:QH301-705.5, Spectroscopy, Endothelial progenitor cells, Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica, Whole blood, education.field_of_study, Settore MED/27 - Neurochirurgia, General Medicine, Pathophysiology, Computer Science Applications, Cytokines, Female, Settore MED/26 - Neurologia, Moyamoya Disease, medicine.symptom, Adult, medicine.medical_specialty, Population, Neovascularization, Physiologic, Settore BIO/11 - Biologia Molecolare, Vascular Remodeling, Endothelial progenitor cell, Peripheral blood mononuclear cell, Article, Catalysis, Angiopathy, Inorganic Chemistry, 03 medical and health sciences, Paracrine Communication, Human Umbilical Vein Endothelial Cells, Humans, RNA, Messenger, Physical and Theoretical Chemistry, Progenitor cell, education, Molecular Biology, RNF213, business.industry, Organic Chemistry, Moyamoya angiopathy, Endothelial Cells, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Gene Expression Regulation, Leukocytes, Mononuclear, business, Biomarkers, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a0799702d55b37cc20b7173d9842c59
https://hdl.handle.net/2434/946195

المؤلفون: Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia, Accorsi, Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Cantalupo, Gaetano, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Maria Cristina Digilio, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferraris, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Melis, Emanuele, Micaglio, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Margherita, Nosadini, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Pasquale, Parisi, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Leonardo, Salviati, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Marco, Seri, Sabrina, Signorini, Margherita, Silengo, Simonati, Alessandro, Fabio, Sirchia, Luigina, Spaccini, Franco, Stanzial, Gilda, Stringini, Eva, Trevisson, Antonella, Trivelli, Vera, Uliana, Graziella, Uziel, Gessica, Vasco, Marina, Vascotto, Giuseppina, Vitiello, Federica, Zibordi

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Neurology, Vol. 94, no.8, p. e797-e801 (2020)

مصطلحات موضوعية: IQR=interquartile range, 0301 basic medicine, Proband, Male, JS=Joubert syndrome, Prevalence, CI=confidence interval, CI = confidence interval, 0302 clinical medicine, Cerebellum, Epidemiology, Databases, Genetic, JS = Joubert syndrome, Medicine, Eye Abnormalities, Young adult, Age of Onset, Child, education.field_of_study, Age Factors, High-Throughput Nucleotide Sequencing, Kidney Diseases, Cystic, Middle Aged, Italy, Child, Preschool, Joubert syndrome, Italy, Cohort, Kidney Diseases, Female, MTS = molar tooth sign, Abnormalities, Multiple, NGS=next-generation sequencing, Adult, medicine.medical_specialty, Adolescent, IQR = interquartile range, NGS = next-generation sequencing, Population, Retina, Databases, Cystic, 03 medical and health sciences, Young Adult, Sex Factors, Genetic, Joubert syndrome, Humans, Abnormalities, Multiple, Infant, Preschool, CI=confidence interval, IQR=interquartile range, JS=Joubert syndrome, MTS=molar tooth sign, NGS=next-generation sequencing, education, business.industry, MTS=molar tooth sign, Confidence interval, 030104 developmental biology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Demography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514766fd23b3d9e1add49a06f0da0f5
http://hdl.handle.net/11577/3356044

المؤلفون: Thomas Klopstock, Zuhal Yapici, Federica Zibordi, Penelope Hogarth, Christine Aguilar, Anna Basu, Fernando Tricta, Patrick F. Chinnery, Andrew M. Blamire, Petr Dusek, Michael Spino, Nardo Nardocci, Ivan Karin, Susan J. Hayflick, Ian J. Wilson, Hannah E. Steele, Feng Zhao, Rita Horvath, Giovanna Zorzi, Elliott Vichinsky, Tomasz Kmieć, Christiane Neuhofer, Caroline Fradette, Boriana Büchner, Bernadette Kalman, Clemens Küpper, Lynne Neumayr

المصدر: The lancet / Neurology 18(7), 631-642 (2019). doi:10.1016/S1474-4422(19)30142-5

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, drug therapy [Pantothenate Kinase-Associated Neurodegeneration], Adolescent, Neutropenia, Placebo, Iron Chelating Agents, Pantothenate kinase-associated neurodegeneration, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Internal medicine, therapeutic use [Deferiprone], Medicine, Humans, Deferiprone, ddc:610, Adverse effect, Child, Pantothenate Kinase-Associated Neurodegeneration, business.industry, therapeutic use [Iron Chelating Agents], adverse effects [Deferiprone], Middle Aged, medicine.disease, Regimen, 030104 developmental biology, Treatment Outcome, chemistry, Child, Preschool, Disease Progression, Body region, Female, Neurology (clinical), business, adverse effects [Iron Chelating Agents], 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08486a4e2873ef86e448e2e69a5ed05f

المؤلفون: Carlo Avolio, Francesca Ragona, Giuseppina Barbella, Elena Freri, Patrizia Riguzzi, Chiara Sueri, Edoardo Ferlazzo, Paolo Tinuper, Loretta Giuliano, Davide Rossi Sebastiano, Cinzia Costa, Carlo Di Bonaventura, Elena Nardi Cesarini, Tommaso Martino, Silvana Franceschetti, Francesca Bisulli, Adriana Magaudda, Giuseppe d'Orsi, Vito Sofia, Federica Zibordi, Laura Licchetta, Laura Canafoglia, Francesca Beccaria, Martina Fanella, Antonio Gambardella, Tiziana Granata, Pasquale Striano, Umberto Aguglia, Roberto Michelucci, Elisa Visani

المساهمون: Canafoglia L., Barbella G., Ferlazzo E., Striano P., Magaudda A., d'Orsi G., Martino T., Avolio C., Aguglia U., Sueri C., Giuliano L., Sofia V., Zibordi F., Ragona F., Freri E., Costa C., Cesarini E.N., Fanella M., Sebastiano D.R., Riguzzi P., Gambardella A., Bonaventura C.D., Michelucci R., Granata T., Bisulli F., Licchetta L., Tinuper P., Beccaria F., Visani E., Franceschetti S.

مصطلحات موضوعية: Adult, Male, Myoclonus, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pyridones, Progressive myoclonus epilepsy, EPM1, EPM2, Irritability, Perampanel, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Epilepsy, 0302 clinical medicine, Seizures, Rating scale, Nitriles, medicine, Humans, Kufs disease, Myoclonus scale, Perampanel, Progressive myoclonus epilepsy, EPM1, EPM2, Irritability, Myoclonus scale, Aged, business.industry, Middle Aged, Myoclonic Epilepsies, Progressive, medicine.disease, Treatment Outcome, 030104 developmental biology, Neurology, chemistry, Etiology, Anticonvulsants, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dfa0abbecd82816fed773fc2cc69e0b
http://hdl.handle.net/11570/3150946

المؤلفون: Chiara Pantaleoni, Davide Rossi Sebastiano, Gloria Bedini, Maurizio Paciaroni, Marco Pavanello, Veronica Saletti, Andrea Zini, Giuseppe Faragò, Elisa Ciceri, Daria Riva, Stefania Bianchi Marzoli, Sara Nava, Massimiliano Toscano, Peter Vajkoczy, Elisabeth Tournier Lasserve, Emilio Ciusani, Kinga G. Blecharz, Luigi Caputi, Nardo Nardocci, Maria Vittoria Calloni, Giorgio Bono, Maria Luisa De Lodovici, Vittorio Di Piero, Marina Grisoli, Cristina Sarti, Fioravanti Capone, Alessandro Pezzini, Maria Luisa Dell’ Acqua, Federica Zibordi, Eugenio Parati, Anna Bersano, Silvia Lanfranconi, Silvia Esposito, Marco Cenzato, Simona Binelli, Antonio Carolei, Danilo Toni, Paolo Prontera, Filippo Farina, Alfredo Romani, Patrizia Perrone, Alessandro Raso, Sandro Sanguigni, Maria Grazia Bruzzone, Leonardo Pantoni, Silvana Franceschetti, Vincenzo Di Lazzaro, Andrea Gioppo, Simona Sacco, Claudio Baracchini, Alessia Fratianni, Marialuisa Zedde, Paolo Ferroli, Filomena Caria, Francesco Acerbi, Valeria Capra, Valeria Caso

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Neuroimaging, Network, Dermatology, Endothelial progenitor cells, Genetics, Markers, Moyamoya disease, 2708, Neurology (clinical), Psychiatry and Mental Health, Community Networks, Angiopathy, Brain Ischemia, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, 030212 general & internal medicine, Child, Stroke, Neuroradiology, Aged, Retrospective Studies, business.industry, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, Phenotype, Italy, Child, Preschool, Disease Progression, Observational study, Female, Age of onset, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f67fe53b148cb8006dd71acb3396284f
http://hdl.handle.net/11573/1225558

المؤلفون: Nardo Nardocci, Federica Zibordi, Federica Invernizzi, Elena Freri, Roberta Solazzi, Giovanna Zorzi, Francesco Carella, Costanza Lamperti, Barbara Garavaglia, Massimo Zeviani, Carlo Fusco, Tiziana Granata

المصدر: European Journal of Paediatric Neurology. 20:152-157

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Autosomal dominant, Dystonia, Epilepsy, Paroxysmal kinesigenic dyskinesia, PRRT2, Child, European Continental Ancestry Group, Female, Humans, Membrane Proteins, Middle Aged, Mutation, Nerve Tissue Proteins, Pedigree, medicine.medical_specialty, Pediatrics, Choreoathetosis, White People, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Family history, business.industry, Incidence (epidemiology), General Medicine, Paroxysmal dyskinesia, medicine.disease, 030104 developmental biology, Endocrinology, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6add9aa33b65ac0ef9655f504454450a
https://doi.org/10.1016/j.ejpn.2015.08.006

المؤلفون: Daniele Ghezzi, Federica Zibordi, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Davide Tonduti

المصدر: Journal of Child Neurology. 30:1800-1805

مصطلحات موضوعية: Male, medicine.medical_specialty, Movement disorders, Adolescent, Gangliosidosis, Levodopa, Young Adult, chemistry.chemical_compound, Hypokinesia, Dopamine, Internal medicine, medicine, Humans, Child, Neurotransmitter, Dystonia, Neurotransmitter Agents, Movement Disorders, Anti-Dyskinesia Agents, Infant, Newborn, Infant, medicine.disease, Monoamine neurotransmitter, Endocrinology, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Serotonin, medicine.symptom, Psychology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d225cfff48869750ab6e8543f035c799
https://doi.org/10.1177/0883073815581608

المؤلفون: L. Angelini, Matteo Chiappedi, Federica Zibordi, Giorgio Seragni, Barbara Bettinardi, Caterina Reina, Timna Colombo

المصدر: Minerva Pediatrics. 70

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Time Factors, Randomization, Adolescent, Tics, Habit reversal training, Pilot Projects, Comorbidity, Severity of Illness Index, Tourette syndrome, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Behavior Therapy, law, 030225 pediatrics, mental disorders, Severity of illness, medicine, Humans, Single-Blind Method, Child, Psychiatric Status Rating Scales, business.industry, medicine.disease, Treatment Outcome, Italy, Tic Disorders, Pediatrics, Perinatology and Child Health, Quality of Life, business, 030217 neurology & neurosurgery, Tourette Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2cf098f968ade28dd168665af6bc6fb
https://doi.org/10.23736/s0026-4946.16.04344-9

المؤلفون: Francesca Ragona, Miryam Carecchio, Giovanna Zorzi, Federica Zibordi, Nardo Nardocci

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 22(2)

مصطلحات موضوعية: 0301 basic medicine, Sensorineural, Bioinformatics, medicine.disease_cause, Congenital, 0302 clinical medicine, ATP1A3, Child, Mutation, General Medicine, Dystonia, Dystonic Disorders, Child, Preschool, Sensorineural hearing loss, Female, medicine.symptom, Sodium-Potassium-Exchanging ATPase, Foot Deformities, Pes cavus, Cerebellar Ataxia, Foot Deformities, Congenital, Hearing Loss, Sensorineural, Hemiplegia, Parkinsonism, 03 medical and health sciences, Atrophy, Reflex, Genetics, medicine, Humans, Allele, Movement disorders, Preschool, Hearing Loss, Genetic Association Studies, Cerebellar ataxia, Reflex, Abnormal, business.industry, Alternating hemiplegia of childhood, Optic Atrophy, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Abnormal, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2d2c6b4ec0b211ee188b369fc80221
https://pubmed.ncbi.nlm.nih.gov/29291920