المؤلفون: Sara Rinaldo, Roberto Cilia, Valentina Leta, Mariarosaria Gammone, Nico Golfrè Andreasi, Fabiana Colucci, Arianna Braccia, Roberta Telese, Marco Fusar Poli, Vincenzo Levi, Luigi Michele Antonio Romito, Francesco Ghilemetti, Elena De Martin, Maria Luisa Fumagalli, Francesca Epifani, Sara Prioni, Paolo Amami, Sylvie Piacentini, Antonio Emanuele Elia, Grazia Devigili, Vittoria Nazzi, Elisa Francesca Maria Ciceri, Mario Stanziano, Marina Grisoli, Valentina Caldiera, Marisa Catotti, Francesco DiMeco, Giacomina Clara Moreschi, Roberto Eleopra

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: clinical pathways, MRgFUS, focused ultrasound, thalamotomy, essential tremor, Parkinson’s disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1356310/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/0bd7201d934244eda114a89272e095c6

المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df

المؤلفون: Rinaldo, Sara, Cilia, Roberto, Leta, Valentina, Gammone, Mariarosaria, Golfrè Andreasi, Nico, Colucci, Fabiana, Braccia, Arianna, Telese, Roberta, Fusar Poli, Marco, Levi, Vincenzo, Antonio Romito, Luigi Michele, Ghilemetti, Francesco, De Martin, Elena, Fumagalli, Maria Luisa, Epifani, Francesca, Prioni, Sara, Amami, Paolo, Piacentini, Sylvie, Elia, Antonio Emanuele, Devigili, Grazia

المصدر: Frontiers in Neurology; 2024, p01-10, 10p

مصطلحات موضوعية: MOVEMENT disorders, MOVEMENT therapy, PARKINSON'S disease, ESSENTIAL tremor, GLOBUS pallidus

المؤلفون: Ana Westenberger, Adriana Ruiz‐Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem, Talal Alanzi, Antonio Romito, Arndt Rolfs, Patricia Dias, Raquel Gouveia Silva, Aida M. Bertoli‐Avella, Peter Bauer, Christian Beetz

المصدر: Movement Disorders. 38:502-504

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8139c5e77263295a20a8c18b03fcdd7a
https://doi.org/10.1002/mds.29323

المؤلفون: Daphne J, Smits, Jordy, Dekker, Rachel, Schot, Brahim, Tabarki, Amal, Alhashem, Jeroen A A, Demmers, Dick H W, Dekkers, Antonio, Romito, Peter J, van der Spek, Tjakko J, van Ham, Aida M, Bertoli-Avella, Grazia M S, Mancini

المصدر: Human genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::1a575152d52e66cddab7d384295800c9
https://pubmed.ncbi.nlm.nih.gov/36538041

المؤلفون: Minna Kraatari‐Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen‐Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie‐Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli‐Avella, Peppi Koivunen, Elisa Rahikkala

المصدر: Clinical Genetics

مصطلحات موضوعية: recessive, Syndrome, Prolyl Hydroxylases, HIDEA, Phenotype, intellectual disability, Codon, Nonsense, Catalytic Domain, Intellectual Disability, Genetics, Humans, Muscle Hypotonia, P4HTM, Amino Acids, genes, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3ff71bbf7b86db1872485b1039de06
https://pubmed.ncbi.nlm.nih.gov/35908151

المؤلفون: Antonietta Coppola, Antonio Romito, Christelle Borel, Corinne Gehrig, Maryline Gagnebin, Emilie Falconnet, Antonella Izzo, Lucia Altucci, Sandro Banfi, Stylianos E. Antonarakis, Gabriella Minchiotti, Gilda Cobellis

المصدر: Stem Cell Research, Vol 12, Iss 2, Pp 323-337 (2014)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506113001700; https://doaj.org/toc/1873-5061; https://doaj.org/toc/1876-7753

URL الوصول: https://doaj.org/article/9afed9bd1b1d496fab11a25aa8ee20b2

المؤلفون: Eissa A. Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Prouteau Clément, Daniel G. Calame, Leila Qebibo, Lydie Burglen, Martine Doco-Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Ziegler Alban, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, Rawya Alraddadi, Razan Alamri, Tadahiro Mitani, Barth Magalie, Zeynep Coban-Akdemir, Bilgen Bilge Geckinli, Davut Pehlivan, Antonio Romito, Vasiliki Karageorgou, Javier Martini, Estelle Colin, Dominique Bonneau, Aida Bertoli-Avella, James R. Lupski, Annalisa Pastore, Roy W.A. Peake, Ashraf Dallol, Majid Alfadhel, Naif A.M. Almontashiri

المساهمون: Faqeih, Eissa A, Alghamdi, Malak Ali, Almahroos, Marwa A, Alharby, Essa, Almuntashri, Makki, Alshangiti, Amnah M, Clément, Prouteau, Calame, Daniel G, Qebibo, Leila, Burglen, Lydie, Doco-Fenzy, Martine, Mastrangelo, Mario, Torella, Annalaura, Manti, Filippo, Nigro, Vincenzo, Alban, Ziegler, Alharbi, Ghadeer Saleh, Hashmi, Jamil Amjad, Alraddadi, Rawya, Alamri, Razan, Mitani, Tadahiro, Magalie, Barth, Coban-Akdemir, Zeynep, Geckinli, Bilgen Bilge, Pehlivan, Davut, Romito, Antonio, Karageorgou, Vasiliki, Martini, Javier, Colin, Estelle, Bonneau, Dominique, Bertoli-Avella, Aida, Lupski, James R, Pastore, Annalisa, Peake, Roy W A, Dallol, Ashraf, Alfadhel, Majid, Almontashiri, Naif A M, Faqeih E. A. , Alghamdi M. A. , Almahroos M. A. , Alharby E., Almuntashri M., Alshangiti A. M. , Clément P., Calame D. G. , Qebibo L., Burglen L., et al.

مصطلحات موضوعية: GENETİK VE KALITIM, HECTD4, Intellectual disability, Life Sciences (LIFE), Molecular Biology and Genetics, Sağlık Bilimleri, Tıbbi Genetik, E3 ligase, Neurobehavioral differences, UBE3C, Yaşam Bilimleri, Health Sciences, GENETICS & HEREDITY, Moleküler Biyoloji ve Genetik, Neurobehavioral difference, Genetics (clinical), Internal Medicine Sciences, Temel Bilimler, Life Sciences, Dahili Tıp Bilimleri, Tıp, MOLECULAR BIOLOGY & GENETICS, Yaşam Bilimleri (LIFE), Genetik (klinik), Medicine, Natural Sciences, Medical Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c2dd92120eef11b5b24601e4473af4
https://hdl.handle.net/11573/1662950

المؤلفون: Antonio Romito, Gilda Cobellis

المصدر: Stem Cells International, Vol 2016 (2016)

مصطلحات موضوعية: Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-966X; https://doaj.org/toc/1687-9678

URL الوصول: https://doaj.org/article/9c4eede404fb4cacaf630e9ee4533122

المؤلفون: Antonio Romito, Enza Lonardo, Guglielmo Roma, Gabriella Minchiotti, Andrea Ballabio, Gilda Cobellis

المصدر: PLoS ONE, Vol 5, Iss 2, p e9029 (2010)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2815785?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/1c079c6655454b28a81dae81e13698c4