المؤلفون: Petrozziello, Tiziana, Motlagh, Negin Jalali, Monsanto, Ranee Zara B., Lei, Dan, Murcar, Micaela G., Penney, Ellen B., Bragg, D. Cristopher, Fernandez‐Cerado, Cara, Legarda, G. Paul, Sy, Michelle, Muñoz, Edwin, Ang, Mark C., Diesta, Cid Czarina E., Zhang, Can, Tanzi, Rudolph E., Qureshi, Irfan A., Chen, John W., Sadri‐Vakili, Ghazaleh

المساهمون: National Institutes of Health

المصدر: CNS Neuroscience & Therapeutics ; volume 30, issue 11 ; ISSN 1755-5930 1755-5949

الاتاحة: http://dx.doi.org/10.1111/cns.70109
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cns.70109

المؤلفون: Laß, Joshua, Lüth, Theresa, Schlüter, Kathleen, Schaake, Susen, Laabs, Björn‐Hergen, Much, Christoph, Jamora, Roland Dominic, Rosales, Raymond L., Saranza, Gerard, Diesta, Cid Czarina E., Pearson, Christopher E., König, Inke R., Brüggemann, Norbert, Klein, Christine, Westenberger, Ana, Trinh, Joanne

المساهمون: Deutsche Forschungsgemeinschaft, Canadian Institutes of Health Research, Peter und Traudl Engelhorn Stiftung

المصدر: Movement Disorders ; volume 39, issue 7, page 1145-1153 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29809

المؤلفون: Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond, L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank, J, Depienne, Christel, Pearson, Christopher, E, Westenberger, Ana, Klein, Christine

المساهمون: Universität zu Lübeck = University of Lübeck Lübeck, University of the Philippines (UP System), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: repeat interruptions, mosaic, genetic modifiers, single-molecule sequencing, X-linked dystonia parkinsonism, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35481544; hal-04480112; https://hal.science/hal-04480112; https://hal.science/hal-04480112/document; https://hal.science/hal-04480112/file/awac160.pdf; PUBMED: 35481544; PUBMEDCENTRAL: PMC9976955

الاتاحة: https://hal.science/hal-04480112
https://hal.science/hal-04480112/document
https://hal.science/hal-04480112/file/awac160.pdf
https://doi.org/10.1093/brain/awac160

المؤلفون: Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.

المصدر: Acta Neuropathologica Communications ; volume 10, issue 1 ; ISSN 2051-5960

الاتاحة: https://doi.org/10.1186/s40478-022-01367-y
https://link.springer.com/content/pdf/10.1186/s40478-022-01367-y.pdf
https://link.springer.com/article/10.1186/s40478-022-01367-y/fulltext.html

المؤلفون: Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.

المساهمون: COLLABORATIVE CENTER FOR XDP, Massachusetts General Hospital

المصدر: Acta Neuropathologica Communications ; volume 10, issue 1 ; ISSN 2051-5960

الاتاحة: http://dx.doi.org/10.1186/s40478-022-01349-0
https://link.springer.com/content/pdf/10.1186/s40478-022-01349-0.pdf
https://link.springer.com/article/10.1186/s40478-022-01349-0/fulltext.html

المؤلفون: Capponi, Simona, Stöffler, Nadja, Penney, Ellen B., Grütz, Karen, Nizamuddin, Sheikh, Vermunt, Marit W., Castelijns, Bas, Fernandez-Cerado, Cara, Legarda, G. Paul, Velasco-Andrada, M. Salvie, Muñoz, Edwin L., Ang, Mark A., Diesta, Cid Czarina E., Creyghton, Menno P., Klein, Christine, Bragg, D. Cristopher, Rijk, Peter de, Timmers, H. T. Marc

المصدر: Brain communications. - 3, 4 (2021) , fcab253, ISSN: 2632-1297

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/223649

الاتاحة: https://freidok.uni-freiburg.de/data/223649
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2236496
https://doi.org/10.1093/braincomms/fcab253
https://freidok.uni-freiburg.de/dnb/download/223649

المؤلفون: Espiritu, Adrian I., Chiu, Harold Henrison C., Sy, Marie Charmaine C., Anlacan, Veeda Michelle M., Macalintal, Corina Maria Socorro A., Robles, Joanne B., Cataniag, Paulo L., Flores, Manolo Kristoffer C., Tangcuangco-Trinidad, Noreen Jhoanna C., Juangco, Dan Neftalie A., Paas, Giuliani Renz G., Chua, Audrey Marie U., Estrada, Valmarie S., Mejia, Philip Rico P., Reyes, Therese Franz B., Cañete, Maria Teresa A., Zapata, Ferdinand Renfred A., Castillo, Franko Eugenio B., Esagunde, Romulo U., Gantioque, Jean B., Abbariao, Maritoni C., Acebuque, Geramie M., Corral, Evram V., Escasura, Marian Irene C., Ong, Marissa T., Fowler, Krizelle, Pineda, Arnold Angelo M., Aradani, Khasmeen D., Catindig, Joseree-Ann S., Cinco, Mark Timothy T., Ramos, Mark Erving H., Cruz, Romulus Emmanuel H., Dantes, Marita B., Francisco, Norberto A., Teleg, Rosalia A., Bellosillo, Krisverlyn B., Delfino, Jean Paolo M., Diesta, Cid Czarina E., Espiritu-Picar, Rosalina B., Gamboa, Julie Anne V., Matute, Cara Camille M., Padilla, Franzelle P., Punsalan, John Joshua Q., Collantes, Ma. Epifania V., Que, Charmaine B., Sampao, Hanifa A., Maria, Maxine Camela S. Sta., Fuentes, Marita M., Manzano, Jennifer Justice F., Umali, Rizza J.

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-021-03898-1
https://www.nature.com/articles/s41598-021-03898-1.pdf
https://www.nature.com/articles/s41598-021-03898-1

المؤلفون: Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-021-23491-4
https://www.nature.com/articles/s41467-021-23491-4.pdf
https://www.nature.com/articles/s41467-021-23491-4

المؤلفون: Espiritu, Adrian I., Sy, Marie Charmaine C., Anlacan, Veeda Michelle M., Jamora, Roland Dominic G., Macalintal, Corina Maria Socorro A., Robles, Joanne B., Cataniag, Paulo L., Flores, Manolo Kristoffer C., Tangcuangco-Trinidad, Noreen Jhoanna C., Juangco, Dan Neftalie A., Paas, Giuliani Renz G., Chua, Audrey Marie U., Estrada, Valmarie S., Mejia, Philip Rico P., Reyes, Therese Franz B., Cañete, Maria Teresa A., Zapata, Ferdinand Renfred A., Castillo, Franko Eugenio B., Esagunde, Romulo U., Gantioque, Jean B., Abbariao, Maritoni C., Acebuque, Geramie M., Corral, Evram V., Escasura, Marian Irene C., Ong, Marissa T., Fowler, Krizelle Cleo, Pineda, Arnold Angelo M., Aradani, Khasmeen D., Catindig, Joseree-Ann S., Cinco, Mark Timothy T., Ramos, Mark Erving H., Cruz, Romulus Emmanuel H., Dantes, Marita B., Francisco, Norberto A., Teleg, Rosalia A., Bellosillo, Krisverlyn B., Delfino, Jean Paolo M., Diesta, Cid Czarina E., Espiritu-Picar, Rosalina B., Gamboa, Julie Anne V., Matute, Cara Camille M., Padilla, Franzelle P., Punsalan, John Joshua Q., Collantes, Ma. Epifania V., Que, Charmaine B., Sampao, Hanifa A., Maria, Maxine Camela S. Sta., Fuentes, Marita M., Manzano, Jennifer Justice F., Umali, Rizza J.

المساهمون: philippine neurological association, expanded hospital research office, university of the philippines-philippine general hospital

المصدر: Journal of Neural Transmission ; volume 128, issue 11, page 1687-1703 ; ISSN 0300-9564 1435-1463

الاتاحة: http://dx.doi.org/10.1007/s00702-021-02400-5
https://link.springer.com/content/pdf/10.1007/s00702-021-02400-5.pdf
https://link.springer.com/article/10.1007/s00702-021-02400-5/fulltext.html

المؤلفون: Fernandez-Cerado, Cara, Legarda, G. Paul, Velasco-Andrada, M. Salvie, Aguil, Abegail, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Soria, Jasmin, Jamora, Roland Dominic G., Acuña, Patrick J., Vanderburg, Charles, Sapp, Ellen, DiFiglia, Marian, Murcar, Micaela G., Campion, Lindsey, Ozelius, Laurie J., Alessi, Amy K., Singh-Bains, Malvindar K., Waldvogel, Henry J., Faull, Richard L. M., Macalintal-Canlas, Regina, Muñoz, Edwin L., Penney, Ellen B., Ang, Mark A., Diesta, Cid Czarina E., Bragg, D. Cristopher, Acuña-Sunshine, Geraldine

المساهمون: The Collaborative Center for X-Linked Dystonia-Parkinsonism

المصدر: Journal of Neural Transmission ; volume 128, issue 4, page 575-587 ; ISSN 0300-9564 1435-1463

الاتاحة: http://dx.doi.org/10.1007/s00702-020-02286-9
https://link.springer.com/content/pdf/10.1007/s00702-020-02286-9.pdf
https://link.springer.com/article/10.1007/s00702-020-02286-9/fulltext.html

المؤلفون: Petrozziello, Tiziana, Dios, Amanda M., Mueller, Kaly A., Vaine, Christine A., Hendriks, William T., Glajch, Kelly E., Mills, Alexandra N., Mangkalaphiban, Kotchaphorn, Penney, Ellen B., Ito, Naoto, Fernandez-Cerado, Cara, Legarda, Gierold Paul A., Velasco-Andrada, M. Salvie, Acuña, Patrick J., Ang, Mark A., Muñoz, Edwin L., Diesta, Cid Czarina E., Macalintal-Canlas, Regina, Acuña, Geraldine, Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher, Sadri-Vakili, Ghazaleh

المساهمون: Branco, Miguel

المصدر: PLOS ONE ; volume 15, issue 12, page e0243655 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0243655
https://dx.plos.org/10.1371/journal.pone.0243655

المؤلفون: Krause, Christin, Schaake, Susen, Grütz, Karen, Sievert, Helen, Reyes, Charles Jourdan, König, Inke R., Laabs, Björn‐Hergen, Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Pozojevic, Jelena, Gemoll, Timo, Westenberger, Ana, Kaiser, Frank J., Klein, Christine, Kirchner, Henriette

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: Movement Disorders ; volume 35, issue 12, page 2220-2229 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.28239
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28239
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mds.28239

المؤلفون: Petrozziello, Tiziana, Mills, Alexandra N., Vaine, Christine A., Penney, Ellen B., Fernandez-Cerado, Cara, Legarda, Gierold Paul A., Velasco-Andrada, M. Salvie, Acuña, Patrick J., Ang, Mark A., Muñoz, Edwin L., Diesta, Cid Czarina E., Macalintal-Canlas, Regina, Acuña-Sunshine, Geraldine, Ozelius, Laurie J., Sharma, Nutan, Bragg, D. Cristopher, Sadri-Vakili, Ghazaleh

المساهمون: Massachusetts General Hospital

المصدر: Neurobiology of Disease ; volume 144, page 105032 ; ISSN 0969-9961

الاتاحة: http://dx.doi.org/10.1016/j.nbd.2020.105032
https://api.elsevier.com/content/article/PII:S0969996120303077?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0969996120303077?httpAccept=text/plain

المؤلفون: Pasco, Paul Matthew D., Jamora, Roland Dominic G., Rosales, Raymond L., Diesta, Cid Czarina E., Ng, Arlene R., Teleg, Rosalia A., Go, Criscely L., Lee, Lillian, Fernandez, Hubert H.

المصدر: npj Parkinson's Disease ; volume 3, issue 1 ; ISSN 2373-8057

الاتاحة: http://dx.doi.org/10.1038/s41531-017-0026-0
https://www.nature.com/articles/s41531-017-0026-0
https://www.nature.com/articles/s41531-017-0026-0.pdf

المؤلفون: Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank J, Depienne, Christel, Pearson, Christopher E, Westenberger, Ana, Klein, Christine

المصدر: Brain

مصطلحات موضوعية: Original Article, psy, geo

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976955/

الاتاحة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976955/

المؤلفون: Campion, Lindsey N., Mejia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3d0f5f4f46c5ccde979fae4f9bbbed

المؤلفون: Campion, Lindsey N., Meijia Maza, Alan, Yadav, Rachita, Penney, Ellen B., Murcar, Micaela G., Correia, Kevin, Gillis, Tammy, Fernandez-Cerado, Cara, Velasco-Andrada, M. Salvie, Legarda, G. Paul, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Acuña, Patrick J., Multhaupt-Buell, Trisha, Aldykiewicz, Gabrielle, Supnet, Melanie L., De Guzman, Jan K., Go, Criscely, Sharma, Nutan, Munoz, Edwin L., Ang, Mark C., Diesta, Cid Czarina E., Bragg, D. Cristopher, Ozelius, Laurie J., Wheeler, Vanessa C.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8a0cde76400f501c6a0fc1403c916f

المؤلفون: Dannug, Arjay T., Gabriel, Frachesca Gabrielle C., Macias, Ma. Claudia Ysabel L., Diesta, Cid Czarina E.

المصدر: Parkinsonism & Related Disorders ; volume 87, page 92-97 ; ISSN 1353-8020

الاتاحة: http://dx.doi.org/10.1016/j.parkreldis.2021.04.026
https://api.elsevier.com/content/article/PII:S1353802021001590?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1353802021001590?httpAccept=text/plain

المؤلفون: Jamora, Roland Dominic G., Diesta, Cid Czarina E., Pasco, Paul Matthew D., Lee, Lillian V.

المصدر: International Journal of Neuroscience ; volume 121, issue sup1, page 18-21 ; ISSN 0020-7454 1543-5245

الاتاحة: http://dx.doi.org/10.3109/00207454.2010.544433
http://www.tandfonline.com/doi/pdf/10.3109/00207454.2010.544433

المؤلفون: Westenberger, Ana, Reyes, Charles Jourdan, Saranza, Gerard, Dobricic, Valerija, Hanssen, Henrike, Domingo, Aloysius, Laabs, Björn‐Hergen, Schaake, Susen, Pozojevic, Jelena, Rakovic, Aleksandar, Grütz, Karen, Begemann, Kimberly, Walter, Uwe, Dressler, Dirk, Bauer, Peter, Rolfs, Arndt, Münchau, Alexander, Kaiser, Frank J., Ozelius, Laurie J., Jamora, Roland Dominic, Rosales, Raymond L., Diesta, Cid Czarina E., Lohmann, Katja, König, Inke R., Brüggemann, Norbert, Klein, Christine

المساهمون: Katholischer Akademischer Ausländer-Dienst, Deutsche Forschungsgemeinschaft

المصدر: Annals of Neurology ; volume 85, issue 6, page 812-822 ; ISSN 0364-5134 1531-8249

الاتاحة: http://dx.doi.org/10.1002/ana.25488
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.25488
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25488
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ana.25488