المؤلفون: CRISCUOLO, CHIARA, DE ROSA, ANNA, FILLA, ALESSANDRO, DE MICHELE, GIUSEPPE, A, Guacci, A, Simons, Ej, Breedveld, Gj, Peluso, S, Volpe, G, A, Oostra, Ba, Bonifati V

المساهمون: Criscuolo, Chiara, DE ROSA, Anna, A, Guacci, A, Simons, Ej, Breedveld, Gj, Peluso, S, Volpe, G, Filla, Alessandro, A, Oostra, Ba, Bonifati V, DE MICHELE, Giuseppe

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3730::a964fe965ee1f38580a8bbee12e0e08c
http://hdl.handle.net/11588/420135

المؤلفون: Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Italian Parkinson Genetics Network, Oostra, Ba, CollaboratorsBonifati V, Bonifati V., Giraudo, S, Tassorelli, C, Pacchetti, C, Nappi, G, Riboldazzi, G, Bono, GIORGIO GIOVANNI, Raudino, F, Manfredi, M, Bonizzato, A, Ferracci, C, Marchese, R, Montagna, P, Massaro, F, Minardi, C, Rasi, F, Vanacore, N, Berardelli, A, Vacca, L, De Pandis, F, Dell'Aquila, C, Iliceto, G, Lamberti, P, Trianni, G, Mauro, A, De Gaetano, A, Rizzo, M, Cossu, G.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3660::ab79dad84bcb136d454e581cf6bd90c6
http://hdl.handle.net/11383/1715871

المؤلفون: Di Fonzo, A, Fabrizio, E, Thomas, A, Fincati, E, Marconi, R, Tinazzi, M, Breedveld, Gj, Simons, Ej, Chien, Hf, Ferreira, Jj, Horstink, Mw, Abbruzzese, G, Borroni, B, Cossu, G, Dalla Libera, A, Fabbrini, G, Guidi, M, De Mari, M, Lopiano, L, Martignoni, E, Marini, P, Onofrj, M, Padovani, A, Stocchi, F, Toni, V, Sampaio, C, Barbosa, Er, Meco, G, Antonini, A, Oostra BA, Bonifati V.

المساهمون: Di Fonzo A., Chien H.F., Socal M., Giraudo S., Tassorelli C., Illiceto G., Fabbrini G., Marconi R., Fincati E., Abbruzzese G., Marini P., Squitieri F., Horstink M.W., Montagna P., Libera A.D., Stocchi F., Goldwurm S., Ferreira J.J., Meco G., Martignoni E., Lopiano L., Jardim L.B., OOstra B.A., Barbosa E.R., The Italian Parkinson Genetics Network, Bonifati V., Erasmus MC other, Clinical Genetics

المصدر: Neurology, 68(19), 1557-1562. Lippincott Williams & Wilkins

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, assessment, DNA Mutational Analysis, Mutation, Missense, patients, Central nervous system disease, Cohort Studies, Diagnosis, Differential, Degenerative disease, Parkinsonian Disorders, medicine, Prevalence, Dementia, Missense mutation, Humans, Genetic Predisposition to Disease, young onset Parkinson disease, Genetic Testing, Age of Onset, juvenile parkinsonism, Child, Genetics, business.industry, Parkinsonism, ATP13A2 gene mutations, Brain, Parkinson Disease, Middle Aged, medicine.disease, Young onset Parkinson disease, Proton-Translocating ATPases, Phenotype, Italy, Kufor Rakeb syndrome, Female, Neurology (clinical), business, Brazil

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32892b6ce802f30bac6081a3b6af30f4
http://hdl.handle.net/11585/45636

المؤلفون: Di Fonzo, A, Tassorelli, C, De Mari, M, Chien, Hf, Ferreira, J, Rohé, Cf, Riboldazzi, G, Antonini, A, Albani, G, Mauro, A, Marconi, R, Abbruzzese, G, Lopiano, L, Fincati, E, Guidi, M, Marini, P, Stocchi, F, Onofrj, M, Toni, V, Tinazzi, M, Fabbrini, G, Lamberti, P, Vanacore, N, Meco, G, Leitner, P, Uitti, Rj, Wszolek, Zk, Gasser, T, Simons, Ej, Breedveld, Gj, Goldwurm, S, Pezzoli, G, Sampaio, C, Barbosa, E, Martignoni, E, Oostra, Ba, Bonifati, V, Vancore, N, Fabrizio, E, Locuratolo, N, Martini, L, Scoppetta, C, Colosimo, C, Manfredi, Ma, Tavella, A, Bergamasco, B, Pacchetti, C, Nappi, G, Canesi, M, Calandrella, D, Brono, G, Manfredi, Mi, Raudino, F, Corengia, E, Bonizzato, A, Ferracci, C, Dalla Libera, A, Marchese, R, Montagna, P, Ramat, S, Massaro, F, Minardi, C, Rasi, F, Thomas, A, Vacca, L, De Pandis, F, Diroma, C, Iliceto, G, Trianni, G, De Gaetano, A, Rizzo, M, Cossu, G.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3710::2f719a63999b26f6ebe56e2fb12648c0
http://hdl.handle.net/11567/218113

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المؤلفون: Dekeyser, Raf, Prosser, David

المساهمون: Asserson, AGS, Simons, EJ

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1131::8653610e5b4d558f2211390a47ec4e66
https://lirias.kuleuven.be/handle/123456789/320595

المؤلفون: Simons EJ; Akouos, Inc., Boston, Massachusetts, USA., Trapani I; Telethon Institute of Genetics and Medicine, Pozzuoli (Naples), Italy.; Department of Advanced Biomedical Sciences, 'Federico II' University of Naples, Naples, Italy.

المصدر: Human gene therapy [Hum Gene Ther] 2023 Sep; Vol. 34 (17-18), pp. 808-820.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: M.A. Liebert Country of Publication: United States NLM ID: 9008950 Publication Model: Print Cited Medium: Internet ISSN: 1557-7422 (Electronic) Linking ISSN: 10430342 NLM ISO Abbreviation: Hum Gene Ther Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss*/genetics , Hearing Loss*/therapy , Deaf-Blind Disorders* , Deafness*/genetics , Deafness*/therapy, Animals ; Blindness ; Genetic Therapy

المؤلفون: Ghezelayagh TS; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Kohrn BF; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Fredrickson J; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA., Manhardt E; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Radke MR; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Katz R; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Gray HJ; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Urban RR; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Pennington KP; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Liao JB; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Doll KM; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Simons EJ; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Burzawa JK; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Goff BA; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Speiser P; Medical University of Vienna, Austria., Swisher EM; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Norquist BM; Department of Obstetrics and Gynecology, University of Washington, Seattle, USA., Risques RA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, USA.

المصدر: Cancer research communications [Cancer Res Commun] 2022 Oct; Vol. 2 (10), pp. 1282-1292. Date of Electronic Publication: 2022 Oct 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9918281580506676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2767-9764 (Electronic) Linking ISSN: 27679764 NLM ISO Abbreviation: Cancer Res Commun

مواضيع طبية MeSH: Therapeutic Irrigation* , Ovarian Neoplasms*/genetics, Humans ; Female ; Mutation/genetics ; Clonal Evolution ; Tumor Suppressor Protein p53/genetics