Arama Sonuçları - Saskia A.J. Lesnik Oberstein

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  1. 1
    Peters Plus Syndrome Is a New Congenital Disorder of Glycosylation and Involves Defective O-Glycosylation of Thrombospondin Type 1 Repeats

    Peters Plus Syndrome Is a New Congenital Disorder of Glycosylation and Involves Defective O-Glycosylation of Thrombospondin Type 1 Repeats Yazar: Daniel Heß, J.J. Keusch, Saskia A.J. Lesnik Oberstein, Raoul C. M. Hennekam, Jan Hofsteenge

    Baskı/Yayın Bilgisi 2008
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  2. 2
    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

    A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents Yazar: Jeroen Knijnenburg, Saskia A.J. Lesnik Oberstein, Klemens Frei, Trevor Lucas, A.C.J. Gijsbers, Claudia Ruivenkamp, Hans J. Tanke, Károly Szuhai

    Baskı/Yayın Bilgisi 2009
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  3. 3
    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

    Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase Yazar: Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White, M.E. Kalf, Károly Szuhai, Johan T. den Dunnen, Martijn H. Breuning, Raoul C. M. Hennekam

    Baskı/Yayın Bilgisi 2006
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  4. 4
    Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL

    Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL Yazar: Julie W. Rutten, Hans G. Dauwerse, Gido Gravesteijn, Martine J. van Belzen, Jeroen van der Grond, James M. Polke, Manuel Bernal-Quirós, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2016
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  5. 5
    Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

    Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction Yazar: Remco J. Hack, Gido Gravesteijn, Minne N. Cerfontaine, Mark A Santcroos, Laura Gatti, Anna Kopczak, Anna Bersano, Marco Duering, Julie W. Rutten, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2022
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  6. 6
    Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

    Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower s... Yazar: Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering, Éric Jouvent, Christian Opherk, Leonardo Pantoni, Antonio Federico, Martin Dichgans, Hugh S. Markus, Hugues Chabriat, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2018
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  7. 7
    The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

    The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival comp... Yazar: Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering, Éric Jouvent, Christian Opherk, Leonardo Pantoni, Antonio Federico, Martin Dichgans, Hugh S. Markus, Hugues Chabriat, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2018
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  8. 8
    Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:<i>in vitro</i>proof of concept

    Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:<i>in vitro</i>proof of concept Yazar: Julie W. Rutten, Hans G. Dauwerse, Dorien J.M. Peters, Andrew Goldfarb, Hanka Venselaar, Christof Haffner, Gert‐Jan B. van Ommen, Annemieke Aartsma‐Rus, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2016
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  9. 9
    Effect of <i>NOTCH3</i> EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes

    Effect of <i>NOTCH3</i> EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes Yazar: Remco J. Hack, Minne N. Cerfontaine, Gido Gravesteijn, Stephan Tap, Anne Hafkemeijer, Jeroen van der Grond, Marie‐Noëlle W. Witjes‐Ané, Frank Baas, Julie W. Rutten, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2022
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  10. 10
    Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL

    Lacunar Infarcts Are the Main Correlate With Cognitive Dysfunction in CADASIL Yazar: Michael Liem, Jeroen van der Grond, Joost Haan, Rivka van den Boom, Michel D. Ferrari, Yvette M. Knaap, Martijn H. Breuning, Mark A. van Buchem, Huub A. M. Middelkoop, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2007
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  11. 11
    Broad phenotype of cysteine-altering <i>NOTCH3</i> variants in UK Biobank

    Broad phenotype of cysteine-altering <i>NOTCH3</i> variants in UK Biobank Yazar: Julie W. Rutten, Remco J. Hack, Marco Duering, Gido Gravesteijn, Johannes G. Dauwerse, Maurice Overzier, Erik B. van den Akker, P. Eline Slagboom, Henne Holstege, Kwangsik Nho, Andrew J. Saykin, Martin Dichgans, Rainer Malik, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2020
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  12. 12
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and managem... Yazar: Ilaria Di Donato, Silvia Bianchi, Nicola De Stefano, Martin Dichgans, Maria Teresa Dotti, Marco Duering, Éric Jouvent, Amos D. Korczyn, Saskia A.J. Lesnik Oberstein, Alessandro Malandrini, Hugh S. Markus, Leonardo Pantoni, Silvana Penco, Alessandra Rufa, Osman Sinanović, Dragan Stojanov, Antonio Federico

    Baskı/Yayın Bilgisi 2017
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  13. 13
    Translational models for vascular cognitive impairment: a review including larger species

    Translational models for vascular cognitive impairment: a review including larger species Yazar: Atticus H. Hainsworth, Stuart M. Allan, Johannes Boltze, Catriona Cunningham, Chad W. Farris, Elizabeth Head, Masafumi Ihara, Jeremy D. Isaacs, Raj N. Kalaria, Saskia A.J. Lesnik Oberstein, Mark B. Moss, Björn Nitzsche, Gary A. Rosenberg, Julie W. Rutten, Melita Šalković‐Petrišić, Aron M. Troen

    Baskı/Yayın Bilgisi 2017
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  14. 14
    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations Yazar: Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Līvija Medne, Jodie M. Vento, Kimberly A. Chapman, Brendan C. Lanpher, Phillip L. Pearl, Andrea Gropman, Charles Marques Lourenço, J. Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf A. Bodamer, Simona Orcesi, Saskia A.J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, C. Bönnemann, Amy Waldman, Marjo S. van der Knaap

    Baskı/Yayın Bilgisi 2013
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  15. 15
    Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial

    Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial Yazar: Anna Kopczak, Michael Stringer, Hilde van den Brink, Daniëlle Kerkhofs, Gordon W. Blair, Maud van Dinther, Carmen Arteaga, Daniela Jaime García, Laurien Onkenhout, Karolina Wartolowska, Michael J. Thrippleton, Agniete Kampaite, Marco Duering, Julie Staals, Saskia A.J. Lesnik Oberstein, Keith W. Muir, Martin Middeke, Bo Norrving, Marie‐Germaine Bousser, Ulrich Mansmann, Peter M. Rothwell, Fergus Doubal, Robert van Oostenbrugge, Geert Jan Biessels, Alastair J.S. Webb, Joanna M. Wardlaw, Martin Dichgans, Anna Kopczak, Michael Stringer, Hilde van den Brink, Daniëlle Kerkhofs, Gordon W. Blair, Maud van Dinther, Carmen Arteaga, Daniela Jaime García, Laurien Onkenhout, Karolina Wartolowska, Michael J. Thrippleton, Agniete Kampaite, Marco Duering, Julie Staals, Saskia A.J. Lesnik Oberstein, Keith W. Muir, Martin Middeke, Bo Norrving, Marie‐Germaine Bousser, Ulrich Mansmann, Peter M. Rothwell, Fergus Doubal, Robert van Oostenbrugge, Geert Jan Biessels, Alastair J.S. Webb, Joanna M. Wardlaw, Martin Dichgans, Elisabeth André, Stefan Kääb, Hans‐Joachim Anders, Remco J. Hack, Maria Kaffe, Anna Dewenter, Rainer Malik

    Baskı/Yayın Bilgisi 2023
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  16. 16
    Disease Severity Staging System for <i>NOTCH3</i>-Associated Small Vessel Disease, Including CADASIL

    Disease Severity Staging System for <i>NOTCH3</i>-Associated Small Vessel Disease, Including CADASIL Yazar: Gido Gravesteijn, Julie W. Rutten, Minne N. Cerfontaine, Remco J. Hack, Yi‐Chu Liao, Amy A. Jolly, Stéphanie Guey, Shao‐Lun Hsu, Jae Young Park, Yun Yuan, Anna Kopczak, Nicola Rifino, S. Neilson, Anna Poggesi, Md Manjurul Islam Shourav, Satoshi Saitô, Hiroyuki Ishiyama, Ana Domínguez Mayoral, Renata Nogueira, Elena Muiño, Pia Haubro Andersen, Nicola De Stefano, Gustavo Cordeiro, Nontapat Sukhonpanich, Francesco Mele, Ashley Park, Jung Seok Lee, Mar Rodríguez-Girondo, Sebastiaan J. J. Vonk, Amy Brodtmann, Anne Börjesson‐Hanson, Leonardo Pantoni, Israel Fernández‐Cadenas, Ana Rita Silva, Vinícius Viana Abreu Montanaro, Raj N. Kalaria, Diego Lopergolo, Masafumi Ihara, James F. Meschia, Keith W. Muir, Anna Bersano, Francesca Pescini, Marco Duering, Jay Chol Choi, Ling Chen, Hyunjin Kim, Hugh S Markus, Hugues Chabriat, Yi‐Chung Lee, Saskia A.J. Lesnik Oberstein

    Baskı/Yayın Bilgisi 2024
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