Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Edwin L. Muñoz"'
Autor:
Tiziana Petrozziello, Alexandra N. Mills, Christine A. Vaine, Ellen B. Penney, Cara Fernandez-Cerado, Gierold Paul A. Legarda, M. Salvie Velasco-Andrada, Patrick J. Acuña, Mark A. Ang, Edwin L. Muñoz, Cid Czarina E. Diesta, Regina Macalintal-Canlas, Geraldine Acuña-Sunshine, Laurie J. Ozelius, Nutan Sharma, D. Cristopher Bragg, Ghazaleh Sadri-Vakili
Publikováno v:
Neurobiology of Disease, Vol 144, Iss , Pp 105032- (2020)
Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) pathogenesis. Previously, fibroblasts and neuronal stem cells derived from XDP pa
Externí odkaz:
https://doaj.org/article/15954d0e1c254d9e9fe8a45467887824
Autor:
Ellen Sapp, Laurie J. Ozelius, Edwin L. Muñoz, Charles R. Vanderburg, Regina Macalintal-Canlas, Ellen B. Penney, Malvindar K. Singh-Bains, Roland Dominic G. Jamora, Niecy G. Ganza-Bautista, Abegail Aguil, Marian DiFiglia, Amy K. Alessi, Jasmin Soria, Lindsey Campion, Cara Fernandez-Cerado, Patrick J. Acuña, G. Paul Legarda, Cid Czarina E. Diesta, Geraldine Acuña-Sunshine, Richard L.M. Faull, J. Benedict B. Lagarde, Mark A. Ang, M. Salvie Velasco-Andrada, D. Cristopher Bragg, Micaela G. Murcar, Henry J. Waldvogel
Publikováno v:
Journal of Neural Transmission
X-Linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease affecting individuals with ancestry to the island of Panay in the Philippines. In recent years there has been considerable progress at elucidating the genetic basis of XDP and candid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e21d8be4690abd55713ca251f2046116
https://doi.org/10.1007/s00702-020-02286-9
https://doi.org/10.1007/s00702-020-02286-9
Autor:
Karen Grütz, Mark Angelo C. Ang, Menno P Creyghton, Christine Klein, G. Paul Legarda, Cara Fernandez-Cerado, Sheikh Nizamuddin, Peter De Rijk, Cid Czarina E. Diesta, Simona Capponi, Edwin L Muñoz, Nadja Stöffler, H. T. Marc Timmers, M. Salvie Velasco-Andrada, Marit W Vermunt, Bas Castelijns, D. Cristopher Bragg, Ellen B. Penney
Publikováno v:
Brain communications
Brain Communications
Brain Communications
X-linked dystonia-parkinsonism (XDP) is a monogenic neurodegenerative disorder of the basal ganglia, which presents as a combination of hyperkinetic movements and parkinsonian features. The underlying genetic mechanism involves the insertion of a SIN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f92575e6c943792e7d9870545cd757
https://repository.uantwerpen.be/docstore/d:irua:13096
https://repository.uantwerpen.be/docstore/d:irua:13096
Autor:
Nutan Sharma, Cid Czarina E. Diesta, D. Cristopher Bragg, Gierold Paul A. Legarda, Tiziana Petrozziello, Ellen B. Penney, Christine A. Vaine, Ghazaleh Sadri-Vakili, Edwin L. Muñoz, Regina Macalintal-Canlas, Laurie J. Ozelius, Cara Fernandez-Cerado, Alexandra N. Mills, Mark A. Ang, M. Salvie Velasco-Andrada, Patrick J. Acuña, Geraldine Acuña-Sunshine
Publikováno v:
Neurobiology of Disease, Vol 144, Iss, Pp 105032-(2020)
Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) pathogenesis. Previously, fibroblasts and neuronal stem cells derived from XDP pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009182880af6f2c5f987719acf027771
http://www.sciencedirect.com/science/article/pii/S0969996120303077
http://www.sciencedirect.com/science/article/pii/S0969996120303077
Autor:
Laurie J. Ozelius, Kelly E. Glajch, D. Cristopher Bragg, Geraldine Acuña, Edwin L. Muñoz, Regina Macalintal-Canlas, Christine A. Vaine, Naoto Ito, Nutan Sharma, Gierold Paul A. Legarda, Tiziana Petrozziello, Mark A. Ang, M. Salvie Velasco-Andrada, Ghazaleh Sadri-Vakili, Patrick J. Acuña, Cara Fernandez-Cerado, Alexandra N. Mills, Cid Czarina E. Diesta, William T. Hendriks, Kaly A. Mueller, Ellen B. Penney, Amanda M. Dios, Kotchaphorn Mangkalaphiban
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0243655 (2020)
PLoS ONE
PLoS ONE
X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This SVA insertion induces aberrant TAF1 splicing and partial intron retention, thereby
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08493bdf9097888220d01a44333daaa9
https://doi.org/10.1371/journal.pone.0243655
https://doi.org/10.1371/journal.pone.0243655
Publikováno v:
BMJ Case Rep
Radiation-induced spinal glioblastoma is an extremely rare disease with only four previously published reports in the literature. We report the fifth case, a 69-year-old woman who previously underwent treatment with brachytherapy for cervical cancer,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c103814f0e4288bb1046ce0bcda89a6a
https://doi.org/10.1136/bcr-2020-238372
https://doi.org/10.1136/bcr-2020-238372
Autor:
Lindsey N. Campion, Alan Meijia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-16 (2022)
Abstract X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of v
Externí odkaz:
https://doaj.org/article/baac467a9e3b4fe08c219fe871aff898
Autor:
Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/ef4d8509314d40a785b9044ba45ef7f7
Autor:
Tiziana Petrozziello, Amanda M Dios, Kaly A Mueller, Christine A Vaine, William T Hendriks, Kelly E Glajch, Alexandra N Mills, Kotchaphorn Mangkalaphiban, Ellen B Penney, Naoto Ito, Cara Fernandez-Cerado, Gierold Paul A Legarda, M Salvie Velasco-Andrada, Patrick J Acuña, Mark A Ang, Edwin L Muñoz, Cid Czarina E Diesta, Regina Macalintal-Canlas, Geraldine Acuña, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg, Ghazaleh Sadri-Vakili
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0243655 (2020)
X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This SVA insertion induces aberrant TAF1 splicing and partial intron retention, thereby
Externí odkaz:
https://doaj.org/article/589a61b80bba4eb7bc6d53099ba584bd