ProfileOfResearchers

Identificadas 11

TITLE: ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD Full Text
AUTHORS: Raposo, Mafalda; Huebener Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Vieira Melo, Ana Rosa; Vasconcelos, Joao; Pires, Paula; Kay, Teresa; Riess, Olaf; Costa, Maria do Carmo; Lima, Manuela;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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TITLE: Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
AUTHORS: Adam Jackson; Sheng Jia Lin; Elizabeth A Jones; Kate E Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Ambrose J.C.; Arumugam P.; Bevers R.; Bleda M.; Boardman-Pretty F.; Boustred C.R.; Brittain H.; Brown M.A.; Caulfield M.J.; Chan G.C.; Giess A.; Griffin J.N.; Hamblin A.; Henderson S.; Hubbard T.J.P.; Jackson R.; Jones L.J.; Kasperaviciute D.; Kayikci M.; Kousathanas A.; Lahnstein L.; Lakey A.; Leigh S.E.A.; Leong I.U.S.; Lopez F.J.; Maleady-Crowe F.; McEntagart M.; Minneci F.; Mitchell J.; Moutsianas L.; Mueller M.; Murugaesu N.; Need A.C.; O‘Donovan P.; Odhams C.A.; Patch C.; Perez-Gil D.; Pereira M.B.; Pullinger J.; Rahim T.; Rendon A.; Rogers T.; Savage K.; Sawant K.; Scott R.H.; Siddiq A.; Sieghart A.; Smith S.C.; Sosinsky A.; Stuckey A.; Tanguy M.; Taylor Tavares A.L.; Thomas E.R.A.; Thompson S.R.; Tucci A.; Welland M.J.; Williams E.; Witkowska K.; Wood S.M.; Zarowiecki M.; Olaf Riess; Tobias B Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M Schulze Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; ...More
PUBLISHED: 2023, SOURCE: Human Genetics and Genomics Advances, VOLUME: 4, ISSUE: 2

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CrossRef: 1

TITLE: Identifying the Steps Required to Effectively Implement Next-Generation Sequencing in Oncology at a National Level in Europe
AUTHORS: Horgan, D; Curigliano, G; Riess, O; Hofman, P; Buettner, R; Conte, P; Cufer, T; Gallagher, WM; Georges, N; Kerr, K; Penault Llorca, F; Mastris, K; Pinto, C; Van Meerbeeck, J; Munzone, E; Thomas, M; Ujupan, S; Vainer, GW; Velthaus, JL; Andre, F;
PUBLISHED: 2022, SOURCE: JOURNAL OF PERSONALIZED MEDICINE, VOLUME: 12, ISSUE: 1

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TITLE: Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood Full Text
AUTHORS: Hubener Schmid, J; Kuhlbrodt, K; Peladan, J; Faber, J; Santana, MM; Hengel, H; Jacobi, H; Reetz, K; Garcia Moreno, H; Raposo, M; van Gaalen, J; Infante, J; Steiner, KM; de Vries, J; Verbeek, MM; Giunti, P; de Almeida, LP; Lima, M; van de Warrenburg, B; Schols, L; Klockgether, T; Synofzik, M; Riess, O; ...More
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 36, ISSUE: 11

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TITLE: MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma Full Text
AUTHORS: Andrea Forschner; Franz Joachim Hilke; Irina Bonzheim; Axel Gschwind; German Demidov; Teresa Amaral; Stephan Ossowski; Olaf Riess; Christopher Schroeder; Peter Martus; Bernhard Klumpp; Irene Gonzalez Menendez; Claus Garbe; Heike Niessner; Tobias Sinnberg;
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 3

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TITLE: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
AUTHORS: Fulya Akcimen; Sandra Martins ; Calwing Liao; Cynthia V Bourassa; Helene Catoire; Garth A Nicholson; Olaf Riess; Mafalda Raposo; Marcondes C Franca; Joao Vasconcelos; Manuela Lima; Iscia Lopes Cendes; Maria Luiza Saraiva Pereira; Laura B Jardim; Jorge Sequeiros; Patrick A Dion; Guy A Rouleau;
PUBLISHED: 2020, SOURCE: AGING-US, VOLUME: 12, ISSUE: 6

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TITLE: Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients Full Text
AUTHORS: Franz J Hilke; Tobias Sinnberg; Axel Gschwind; Heike Niessner; German Demidov; Teresa Amaral; Stephan Ossowski; Irina Bonzheim; Martin Roecken; Olaf Riess; Claus Garbe; Christopher Schroeder; Andrea Forschner;
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 9

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