المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)

مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1467-3045/45/4/186; https://doaj.org/toc/1467-3037; https://doaj.org/toc/1467-3045

URL الوصول: https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27

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المؤلفون: Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M.

مصطلحات موضوعية: dementia, GBA, genotype–phenotype correlates, impulsive–compulsive behavior, Parkinson's disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3686::64dbdf18fee0f670d444c562b131beba
http://hdl.handle.net/11573/1433077

المؤلفون: Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M., Altavista, M. C., Amboni, M., Ardolino, G., Berardelli, A., Cogiamanian, F., Colosimo, C., Costanti, D., De Michele, G., Bonaventura, C. D., Di Lazzaro, G., Di Lazzaro, V., Emanuele Elia, A., Erro, R., Ferrazzano, G., Guerra, A., Ialongo, T., Malaguti, M. C., Melis, M., Moro, E., Oppo, V., Ottaviani, D., Peluso, S., Quadri, M. L., Romito, L. M., Sarchioto, M., Schirinzi, T., Sorbera, C., Stefani, A., Thomas, A., Valente, M. L., Volpe, G, ITA-GENE-PD Study, Group.

المساهمون: Petrucci, S, Ginevrino, M, Trezzi, I, Monfrini, E, Ricciardi, L, Albanese, A, Avenali, M, Barone, P, Bentivoglio, Ar, Bonifati, V, Bove, F, Bonanni, L, Brusa, L, Cereda, C, Cossu, G, Criscuolo, C, Dati, G, De Rosa, A, Eleopra, R, Fabbrini, G, Fadda, L, Garbellini, M, Minafra, B, Onofrj, M, Pacchetti, C, Palmieri, I, Pellecchia, Mt, Petracca, M, Picillo, M, Pisani, A, Vallelunga, A, Zangaglia, R, Di Fonzo, A, Morgante, F, Valente, Em, Clinical Genetics, Erasmus MC other, Radiology & Nuclear Medicine

المصدر: Movement Disorders, 35(11), 2106-2111. John Wiley & Sons Inc.

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, Genotype, genotype–phenotype correlates, Disease, Settore MED/05, Genotype phenotype, dementia, GBA, impulsive–compulsive behavior, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, medicine, Dementia, Humans, Sanger sequencing, business.industry, Dissection, Parkinson Disease, medicine.disease, Phenotype, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Glucosylceramidase, Italy, Mutation, Neurology, Cohort, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15201de07228c517e94cdeb076d6fa07
http://hdl.handle.net/11588/814735

المؤلفون: Simona Petrucci, Monia Ginevrino, Enza Maria Valente

المصدر: Parkinsonism & Related Disorders. 22:S16-S20

مصطلحات موضوعية: 0301 basic medicine, snca, alpha-synuclein, genotype-phenotype correlates, Disease, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Parkinsonian Disorders, medicine, Animals, Humans, Epigenetics, Gene, Alpha-synuclein, Genetics, Mutation, mutations, Mechanism (biology), Phenotype, 030104 developmental biology, Neurology, chemistry, Identification (biology), Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ac81f75c9432094371f73f28fd4def
https://doi.org/10.1016/j.parkreldis.2015.08.015

المؤلفون: Tommaso Mazza, Marta Romani, Maria Alessandra Carluccio, Mara Cavallin, Neziha Gouider-Khouja, Maria Teresa Dotti, Alessia Micalizzi, Ichraf Kraoua, László Sztriha, Enza Maria Valente, Stefano Castellana, Francesca Darra, Rosario Ruta, Alíz Zimmermann, Adrienn Máté, Francesca Mancini, Benrhouma Hanene

المصدر: Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Cerebellum, Meckel syndrome, Severity of Illness Index, Ciliopathies, 0302 clinical medicine, Adult, Cerebellar Diseases, Child, Child, Preschool, Ciliary Motility Disorders, Encephalocele, Eye Abnormalities, Female, Humans, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Polycystic Kidney Diseases, Proteins, Retina, Mutation, Polycystic kidney disease, Genetics(clinical), Pharmacology (medical), Letter to the Editor, Genetics (clinical), Medicine(all), Genetics, Primary cilium, 0303 health sciences, Genotype-phenotype correlates, Cilium, General Medicine, 3. Good health, medicine.anatomical_structure, Abnormalities, Multiple, Kidney Diseases, Abnormalities, Multiple, Biology, Joubert syndrome, Cystic, 03 medical and health sciences, MKS1, medicine, Preschool, B9D1, 030304 developmental biology, Genetic heterogeneity, medicine.disease, eye diseases, Ciliopathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6dbcdae090ee99ad5cafc1b8b7a389e
https://doi.org/10.1186/1750-1172-9-72

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