المؤلفون: Islam, Azharul, Chakraborty, Anirban, Gambardella, Stefano, Campopiano, Rosa, Sarker, Altaf H, Boldogh, Istvan, Hazra, Tapas

المصدر: Journal of Biological Chemistry. 299(5)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Clinical Sciences, Biological Sciences, Brain Disorders, Rare Diseases, Genetics, Neurodegenerative, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Generic health relevance, Humans, DNA, DNA Repair, DNA Repair Enzymes, Leukocytes, Mononuclear, Mutation, Phosphotransferases (Alcohol Group Acceptor), Spinocerebellar Ataxias, AOA4, DNA repair, PNKP, neurodegeneration, nuclear transport, Chemical Sciences, Medical and Health Sciences, Biochemistry & Molecular Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8dn0x12rTest

المؤلفون: Giardina, Emiliano, Mandich, Paola, Ghidoni, Roberta, Ticozzi, Nicola, Rossi, Giacomina, Fenoglio, Chiara, Tiziano, Francesco Danilo, Esposito, Federica, Capellari, Sabina, Nacmias, Benedetta, Mineri, Rossana, Campopiano, Rosa, Di Pilla, Luana, Sammarone, Federica, Zampatti, Stefania, Peconi, Cristina, De Angelis, Flavio, Palmieri, Ilaria, Galandra, Caterina, Nicodemo, Eleonora, Origone, Paola, Gotta, Fabio, Ponti, Clarissa, Nicsanu, Roland, Benussi, Luisa, Peverelli, Silvia, Ratti, Antonia, Ricci, Martina, Di Fede, Giuseppe, Magri, Stefania, Serpente, Maria, Lattante, Serena, Domi, Teuta, Carrera, Paola, Saltimbanco, Elisa, Bagnoli, Silvia, Ingannato, Assunta, Albanese, Alberto, Tagliavini, Fabrizio, Lodi, Raffaele, Caltagirone, Carlo, Gambardella, Stefano, Valente, Enza Maria, Silani, Vincenzo

المساهمون: Giardina, Emiliano, Mandich, Paola, Ghidoni, Roberta, Ticozzi, Nicola, Rossi, Giacomina, Fenoglio, Chiara, Tiziano, Francesco Danilo, Esposito, Federica, Capellari, Sabina, Nacmias, Benedetta, Mineri, Rossana, Campopiano, Rosa, Di Pilla, Luana, Sammarone, Federica, Zampatti, Stefania, Peconi, Cristina, De Angelis, Flavio, Palmieri, Ilaria, Galandra, Caterina, Nicodemo, Eleonora, Origone, Paola, Gotta, Fabio, Ponti, Clarissa, Nicsanu, Roland, Benussi, Luisa, Peverelli, Silvia, Ratti, Antonia, Ricci, Martina, Di Fede, Giuseppe, Magri, Stefania, Serpente, Maria, Lattante, Serena, Domi, Teuta, Carrera, Paola, Saltimbanco, Elisa, Bagnoli, Silvia, Ingannato, Assunta, Albanese, Alberto, Tagliavini, Fabrizio, Lodi, Raffaele, Caltagirone, Carlo, Gambardella, Stefano, Valente, Enza Maria, Silani, Vincenzo

مصطلحات موضوعية: C9orf72, GGGGCC hexanucleotide repeat, allele distribution, amyotrophic lateral sclerosi, frontotemporal dementia

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38356886; info:eu-repo/semantics/altIdentifier/wos/WOS:001161567200001; volume:15; firstpage:1; lastpage:9; numberofpages:9; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/11585/963221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185247522; https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1284459/fullTest

الإتاحة: https://doi.org/10.3389/fneur.2024.1284459Test
https://hdl.handle.net/11585/963221Test

المؤلفون: Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Iacoviello, Licia, Gianfrancesco, Fernando, Acampora, Dario, D’Esposito, Maurizio, Simeone, Antonio, Ciullo, Marina, Esposito, Teresa

المصدر: Molecular Neurodegeneration. 16(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Prevention, Brain Disorders, Aging, Neurodegenerative, Parkinson's Disease, Clinical Research, Neurosciences, Aetiology, Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, 2.1 Biological and endogenous factors, Neurological, Adult, Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Parkinson Disease, Pedigree, Exome Sequencing, International Parkinson’s Disease Genomics Consortium, Late onset Parkinson’s disease, Novel candidate genes for Parkinson’s disease, Rare variant burden analysis, Whole exome sequencing, Clinical Sciences, Neurology & Neurosurgery, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/65d4t2krTest

المؤلفون: Rinaldi Fabrizio, D'Apice Maria, Conte Chiara, Gambardella Stefano, Sangiuolo Federica, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 12, Iss 1, p 125 (2011)

مصطلحات موضوعية: Treacher Collins syndrome, TCOF1 mutations, microdeletions, microinsertions, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/12/125Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/af10ee9e51ea4c8ea6a22a4753ed771aTest

المؤلفون: Galli Elena, Piciucchi Matteo, D'Apice Maria R, Gullotta Francesca, Gambardella Stefano, Corleto Vito D, Lucidi Vincenzina, Novelli Giuseppe, Fave Gianfranco

المصدر: BMC Gastroenterology, Vol 10, Iss 1, p 119 (2010)

مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-230X/10/119Test; https://doaj.org/toc/1471-230XTest

الوصول الحر: https://doaj.org/article/7524256c68c0491385e59c947136f603Test

المؤلفون: Angelini Corrado, Loro Emanuele, Viola Antonella, Lepore Saverio M, Rinaldi Fabrizio, Gambardella Stefano, Vergani Lodovica, Novelli Giuseppe, Botta Annalisa

المصدر: Journal of Translational Medicine, Vol 8, Iss 1, p 48 (2010)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: http://www.translational-medicine.com/content/8/1/48Test; https://doaj.org/toc/1479-5876Test

الوصول الحر: https://doaj.org/article/13572573806e427ab5d09811a2801e8fTest

المؤلفون: Nardone Anna, Russo Silvia, Bengala Mario, Gambardella Stefano, D'Apice Maria, Lucidi Vincenzina, Sangiuolo Federica, Novelli Giuseppe

المصدر: BMC Medical Genetics, Vol 5, Iss 1, p 8 (2004)

مصطلحات موضوعية: Cystic fibrosis, CFTR mutation screening, DHPLC, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.biomedcentral.com/1471-2350/5/8Test; https://doaj.org/toc/1471-2350Test

الوصول الحر: https://doaj.org/article/0fb26338a14448cda963101e178b319eTest

المؤلفون: Amatori, Stefano, Persico, Giuseppe, Cantatore, Francesco, Rusin, Martina, Formica, Mauro, Giorgi, Luca, Macedi, Eleonora, Casciaro, Francesca, Errico Provenzano, Alfredo, Gambardella, Stefano, Noberini, Roberta, Bonaldi, Tiziana, Fusi, Vieri, Giorgio, Marco, Fanelli, Mirco

المساهمون: Amatori, Stefano, Persico, Giuseppe, Cantatore, Francesco, Rusin, Martina, Formica, Mauro, Giorgi, Luca, Macedi, Eleonora, Casciaro, Francesca, Errico Provenzano, Alfredo, Gambardella, Stefano, Noberini, Roberta, Bonaldi, Tiziana, Fusi, Vieri, Giorgio, Marco, Fanelli, Mirco

مصطلحات موضوعية: epigenetic therapy, APL, myc downregulation, antiviral response

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000900794700001; volume:30; firstpage:671; lastpage:682; numberofpages:12; journal:CANCER GENE THERAPY; info:eu-repo/grantAgreement/EC/H2020/823839; https://hdl.handle.net/11576/2708713Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144228272; https://www.nature.com/articles/s41417-022-00576-wTest

الإتاحة: https://doi.org/10.1038/s41417-022-00576-wTest
https://hdl.handle.net/11576/2708713Test
https://www.nature.com/articles/s41417-022-00576-wTest

المؤلفون: Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y, Abramycheva, Natalya Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K, Ross, Owen A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H, Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Luis, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A, Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M G, Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel-Cresswell, Silke, Lang, Anthony E, Skorvanek, Matej, Boon, Agnita J W, Krüger, Rejko, Sammler, Esther M, Tumas, Vitor, Zhang, Bao-Rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M, Tan, Eng-King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S, Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M, Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey-Meei, Illarioshkin, Sergey N, Valente, Enza Maria, Aasly, Jan O, Aasly, Anna, Alcalay, Roy N, Thaler, Avner, Farrer, Matthew J, Brockmann, Kathrin, Corvol, Jean-Christophe, Klein, Christine

المساهمون: Vollstedt, Eva-Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexi, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonida, Ferreira, Joaquim J, Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y, Abramycheva, Natalya Y, Alvarez, Victoria, Menéndez-González, Manuel, Jesús Maestre, Silvia, Gómez-Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin-Hsien, Kuo, Ming-Che, Crosiers, David, Wszolek, Zbigniew K, Ross, Owen A, Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams-Gray, Caroline H, Camacho, Marta, Cornejo-Olivas, Mario, Torres-Ramirez, Lui, Wu, Yih-Ru, Lee-Chen, Guey-Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A, Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andrea, Mellick, George D, Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A, Lim, Shen-Yang, Ahmad-Annuar, Azlina, Tan, Ai Huey, Al-Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M G, Saunders-Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathia, Appel-Cresswell, Silke, Lang, Anthony E, Skorvanek, Matej, Boon, Agnita J W, Krüger, Rejko, Sammler, Esther M, Tumas, Vitor

مصطلحات موضوعية: parkinson's disease, monogenic pd

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36692014; info:eu-repo/semantics/altIdentifier/wos/WOS:000928274300001; volume:38; issue:2; firstpage:1; lastpage:28; numberofpages:28; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11573/1667340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147202939

الإتاحة: https://doi.org/10.1002/mds.29288Test
https://hdl.handle.net/11573/1667340Test

المؤلفون: Vollstedt, Eva‐Juliane, Schaake, Susen, Lohmann, Katja, Padmanabhan, Shalini, Brice, Alexis, Lesage, Suzanne, Tesson, Christelle, Vidailhet, Marie, Wurster, Isabel, Hentati, Faycel, Mirelman, Anat, Giladi, Nir, Marder, Karen, Waters, Cheryl, Fahn, Stanley, Kasten, Meike, Brüggemann, Norbert, Borsche, Max, Foroud, Tatiana, Tolosa, Eduardo, Garrido, Alicia, Annesi, Grazia, Gagliardi, Monica, Bozi, Maria, Stefanis, Leonidas, Ferreira, Joaquim J., Correia Guedes, Leonor, Avenali, Micol, Petrucci, Simona, Clark, Lorraine, Fedotova, Ekaterina Y., Abramycheva, Natalya Y., Alvarez, Victoria, Menéndez‐González, Manuel, Jesús Maestre, Silvia, Gómez‐Garre, Pilar, Mir, Pablo, Belin, Andrea Carmine, Ran, Caroline, Lin, Chin‐Hsien, Kuo, Ming‐Che, Crosiers, David, Wszolek, Zbigniew K., Ross, Owen A., Jankovic, Joseph, Nishioka, Kenya, Funayama, Manabu, Clarimon, Jordi, Williams‐Gray, Caroline H., Camacho, Marta, Cornejo‐Olivas, Mario, Torres‐Ramirez, Luis, Wu, Yih‐Ru, Lee‐Chen, Guey‐Jen, Morgadinho, Ana, Pulkes, Teeratorn, Termsarasab, Pichet, Berg, Daniela, Kuhlenbäumer, Gregor, Kühn, Andrea A., Borngräber, Friederike, de Michele, Giuseppe, De Rosa, Anna, Zimprich, Alexander, Puschmann, Andreas, Mellick, George D., Dorszewska, Jolanta, Carr, Jonathan, Ferese, Rosangela, Gambardella, Stefano, Chase, Bruce, Markopoulou, Katerina, Satake, Wataru, Toda, Tatsushi, Rossi, Malco, Merello, Marcelo, Lynch, Timothy, Olszewska, Diana A., Lim, Shen‐Yang, Ahmad‐Annuar, Azlina, Tan, Ai Huey, Al‐Mubarak, Bashayer, Hanagasi, Hasmet, Koziorowski, Dariusz, Ertan, Sibel, Genç, Gençer, de Carvalho Aguiar, Patricia, Barkhuizen, Melinda, Pimentel, Marcia M.G., Saunders‐Pullman, Rachel, van de Warrenburg, Bart, Bressman, Susan, Toft, Mathias, Appel‐Cresswell, Silke, Lang, Anthony E., Skorvanek, Matej, Boon, Agnita J.W., Krüger, Rejko, Sammler, Esther M., Tumas, Vitor, Zhang, Bao‐rong, Garraux, Gaetan, Chung, Sun Ju, Kim, Yun Joong, Winkelmann, Juliane, Sue, Carolyn M., Tan, Eng‐King, Damásio, Joana, Klivényi, Péter, Kostic, Vladimir S., Arkadir, David, Martikainen, Mika, Borges, Vanderci, Hertz, Jens Michael, Brighina, Laura, Spitz, Mariana, Suchowersky, Oksana, Riess, Olaf, Das, Parimal, Mollenhauer, Brit, Gatto, Emilia M., Petersen, Maria Skaalum, Hattori, Nobutaka, Wu, Ruey‐Meei, Illarioshkin, Sergey N., Valente, Enza Maria, Aasly, Jan O., Aasly, Anna, Alcalay, Roy N., Thaler, Avner, Farrer, Matthew J., Brockmann, Kathrin, Corvol, Jean‐Christophe, Klein, Christine

المساهمون: MJFF Global Genetic Parkinson's Disease Study Group

المصدر: 0885-3185 ; Movement disorders: video, videotape supplements

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000928274300001

الإتاحة: https://doi.org/10.1002/MDS.29288Test
https://hdl.handle.net/10067/1931690151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:15875Test