Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Charles Jourdan Reyes"'
Autor:
Aaron Held, Michelle Adler, Christine Marques, Charles Jourdan Reyes, Amey S. Kavuturu, Ana R.A.A. Quadros, I. Sandra Ndayambaje, Erika Lara, Michael Ward, Clotilde Lagier-Tourenne, Brian J. Wainger
Publikováno v:
Cell Reports, Vol 42, Iss 9, Pp 113046- (2023)
Summary: Motor neuron degeneration, the defining feature of amyotrophic lateral sclerosis (ALS), is a primary example of cell-type specificity in neurodegenerative diseases. Using isogenic pairs of induced pluripotent stem cells (iPSCs) harboring dif
Externí odkaz:
https://doaj.org/article/2a5b8930d521472090623e13da8df6d0
Autor:
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Björn‐Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Münte, Ana Westenberger, Jean Q. Oropilla, Norbert Brüggemann
Publikováno v:
Annals of Neurology. 93:999-1011
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9c4cbfe4ca5d76b02c0ac3f09042453
https://doi.org/10.1002/ana.26606
https://doi.org/10.1002/ana.26606
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(11)
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder caused by the intronic insertion of a SINE-VNTR-Alu (SVA) retrotransposon carrying an (AGAGGG)subn/subrepeat expansion in the TAF1 gene. The molecular mechanisms by which this mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3925c9a29ad7e2f422155751526333
https://pubmed.ncbi.nlm.nih.gov/35971992
https://pubmed.ncbi.nlm.nih.gov/35971992
Autor:
Julia Steinhardt, Henrike Hanssen, Marcus Heldmann, Andreas Sprenger, Björn‐Hergen Laabs, Aloysius Domingo, Charles Jourdan Reyes, Jannik Prasuhn, Max Brand, Raymond Rosales, Thomas F. Münte, Christine Klein, Ana Westenberger, Jean Q. Oropilla, Cid Diesta, Norbert Brüggemann
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 37(7)
Early diagnosis in patients with neurodegenerative disorders is crucial to initiate disease-modifying therapies at a time point where progressive neurodegeneration can still be modified.The objective of this study was to determine whether motor or no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d1ed27d3018f2b0c9eb5c890ef9267
https://pubmed.ncbi.nlm.nih.gov/35491955
https://pubmed.ncbi.nlm.nih.gov/35491955
Publikováno v:
Neuromethods ISBN: 9781071623565
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5d2afa3d0f44c622e17bf1a521fbff1
https://doi.org/10.1007/978-1-0716-2357-2_8
https://doi.org/10.1007/978-1-0716-2357-2_8
Autor:
Ana Westenberger, Katja Lohmann, Laurie J. Ozelius, Peter Bauer, Björn-Hergen Laabs, Aleksandar Rakovic, Karen Grütz, Christine Klein, Raymond L. Rosales, Alexander Münchau, Valerija Dobricic, Cid Czarina E. Diesta, Roland Dominic G. Jamora, Jelena Pozojevic, Charles Jourdan Reyes, Susen Schaake, Henrike Hanssen, Norbert Brüggemann, Aloysius Domingo, Uwe Walter, Gerard Saranza, Dirk Dressler, Inke R. König, Arndt Rolfs, Frank J. Kaiser, Kimberly Begemann
Publikováno v:
Annals of Neurology. 85:812-822
Objective X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b81cd505bf638646c27968af00e6d895
https://doi.org/10.1002/ana.25488
https://doi.org/10.1002/ana.25488
Autor:
Theresa Lüth, Joshua Laβ, Susen Schaake, Inken Wohlers, Jelena Pozojevic, Roland Dominic G. Jamora, Raymond L. Rosales, Norbert Brüggemann, Gerard Saranza, Cid Czarina E. Diesta, Kathleen Schlüter, Ronnie Tse, Charles Jourdan Reyes, Max Brand, Hauke Busch, Christine Klein, Ana Westenberger, Joanne Trinh
Publikováno v:
Genes
Genes, Vol 13, Iss 126, p 126 (2022)
Genes; Volume 13; Issue 1; Pages: 126
Genes, Vol 13, Iss 126, p 126 (2022)
Genes; Volume 13; Issue 1; Pages: 126
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene with a polymorphic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346b150caad8650247d2cfdb2e9d209b
https://doi.org/10.3390/genes13010126
https://doi.org/10.3390/genes13010126
Autor:
Norbert Brüggemann, Anne Weissbach, Ana Westenberger, Cid Czarina E. Diesta, Raymond L. Rosales, Christine Klein, Charles Jourdan Reyes, Harutyun Madoev, Martje G. Pauly, Sonja Petkovic, Aloysius Domingo, Laurie J. Ozelius, Marta Ruiz Lopez, Gerard Saranza, Roland Dominic G. Jamora
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(11)
MDSGene is an online database on movement disorders that collates genetic and clinical knowledge using a standardized published literature abstraction strategy. This review is dedicated to X-linked dystonia-parkinsonism (XDP). We screened 233 citatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8fdc27776086a1b03b4f774408ab48
https://pubmed.ncbi.nlm.nih.gov/32949450
https://pubmed.ncbi.nlm.nih.gov/32949450
Autor:
Aleksandar Rakovic, Daniel Alvarez-Fischer, Inke R. König, Imke Weyers, Susen Schaake, Karen Grütz, Norbert Brüggemann, Ana Westenberger, Björn-Hergen Laabs, Charles Jourdan Reyes, Theresa Lüth, Christine Klein, Valerija Dobricic, Raphaela Ardicoglu, Roland Dominic G. Jamora, Joanne Trinh, Raymond L. Rosales
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveOur study investigated the presence of regional differences in hexanucleotide repeat number in postmortem brain tissues of 2 patients with X-linked dystonia-parkinsonism (XDP), a combined dystonia-parkinsonism syndrome modified by a (CCCTCT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6058ccef8b6c6859940f52a1da2d2773
https://doi.org/10.1212/nxg.0000000000000608
https://doi.org/10.1212/nxg.0000000000000608
Autor:
Ana Westenberger, Inke R. König, Roland Dominic G. Jamora, Henriette Kirchner, Cid Czarina E. Diesta, Timo Gemoll, Karen Grütz, Christine Klein, Susen Schaake, Charles Jourdan Reyes, Helen Sievert, Christin Krause, Björn-Hergen Laabs, Raymond L. Rosales, Jelena Pozojevic, Frank J. Kaiser
Publikováno v:
Movement disorders : official journal of the Movement Disorder SocietyReferences. 35(12)
Background X-linked dystonia-parkinsonism is a neurodegenerative movement disorder. The underlying molecular basis has still not been completely elucidated, but likely involves dysregulation of TAF1 expression. In X-linked dystonia-parkinsonism, 3 di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5273039c1c6961dd876e925d892e0a0
https://pubmed.ncbi.nlm.nih.gov/32914507
https://pubmed.ncbi.nlm.nih.gov/32914507