Zobrazeno 1 - 10
of 10
pro vyhledávání: '"S. A. J. Lesnik Oberstein"'
Autor:
R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing
Externí odkaz:
https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
Autor:
Simona Sacco, E. Tournier Lasserve, A. Burlina, L. Caputi, David Hunt, Anna Bersano, Hugh S. Markus, Marcel Arnold, S. A. J. Lesnik Oberstein, Josef Finsterer, Markus Kraemer, Antonio Federico, C. Salvarani, Michelangelo Mancuso, Stéphanie Debette, Martin Dichgans, Hugues Chabriat
Publikováno v:
Journal of Neurology
Journal of Neurology, Springer Verlag, 2021, 268 (8), pp.2780-2807. ⟨10.1007/s00415-020-09836-x⟩
Journal of Neurology. SPRINGER HEIDELBERG
Journal of Neurology, Springer Verlag, 2021, 268 (8), pp.2780-2807. ⟨10.1007/s00415-020-09836-x⟩
Journal of Neurology. SPRINGER HEIDELBERG
Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2108164fc49c8ad6dcc9346b5e85a077
https://hal.archives-ouvertes.fr/hal-03326650
https://hal.archives-ouvertes.fr/hal-03326650
Autor:
L. Caputi, David Hunt, Antonio Federico, Marcel Arnold, Elisabeth Tournier-Lasserve, Stéphanie Debette, Markus Kraemer, Martin Dichgans, Simona Sacco, C. Salvarani, Josef Finsterer, Anna Bersano, S. A. J. Lesnik Oberstein, A. Burlina, Hugh S. Markus, Michelangelo Mancuso, Hugues Chabriat
Publikováno v:
Journal of Neurology. 268:2808-2809
The original version of this article unfortunately contained a mistake. Figure 3 caption is incorrect and co-author name should be E.Tournier-Lasserve.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::194efbc2b474bac580698d6b1e069f1d
https://doi.org/10.1007/s00415-020-09948-4
https://doi.org/10.1007/s00415-020-09948-4
Publikováno v:
Translational Stroke Research, 10(5), 458-459. SPRINGER
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d0eeefb2fb380a23ad10b79008853c
https://hdl.handle.net/1887/122780
https://hdl.handle.net/1887/122780
Autor:
S. A. J. Lesnik Oberstein, M.A. van Buchem, Joost Haan, J. van der Grond, I. L. van der Neut, Huub A. M. Middelkoop, M. D. Ferrari, Michael K. Liem
Publikováno v:
Neurology. 72:143-148
Background: Cognitive decline is one of the clinical hallmarks of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a cerebrovascular disease caused by NOTCH3 mutations. In this 7-year follow-up stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::845c08f92578ea37ffc9c29912d358e5
https://doi.org/10.1212/01.wnl.0000339038.65508.96
https://doi.org/10.1212/01.wnl.0000339038.65508.96
Autor:
Egbert Bakker, H. C. van Houwelingen, Ellen Vollebregt, Martijn H. Breuning, R. van den Boom, S. A. J. Lesnik Oberstein, Joost Haan, M.A. van Buchem, M. D. Ferrari
Publikováno v:
Neurology. 57:1066-1070
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy leading to recurrent cerebral infarcts and dementia. Intracerebral hemorrhage (ICH) has been described spora
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6792034d4ed91425c984ee32091ac079
https://doi.org/10.1212/wnl.57.6.1066
https://doi.org/10.1212/wnl.57.6.1066
Autor:
M. J. Vollebregt, Huub A. M. Middelkoop, J. van der Grond, Michael K. Liem, A.T.J.M. Helderman-van den Enden, S. A. J. Lesnik Oberstein
Publikováno v:
Journal of Neurology. 255:1978-1980
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f70e34a05a950bd8ead782bfdab0660
https://doi.org/10.1007/s00415-009-0036-x
https://doi.org/10.1007/s00415-009-0036-x
Autor:
A.C.J. Gijsbers, Klemens Frei, Claudia A. L. Ruivenkamp, Trevor Lucas, Karoly Szuhai, H. J. Tanke, Jeroen Knijnenburg, S A J Lesnik Oberstein
Publikováno v:
Journal of medical genetics. 46(6)
Background: International databases with information on copy number variation of the human genome are an important reference for laboratories using high resolution whole genome screening. Genomic deletions or duplications which have been detected in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b526ed7c0be425c68596cf6322d348
https://pubmed.ncbi.nlm.nih.gov/19246478
https://pubmed.ncbi.nlm.nih.gov/19246478
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Autor:
S A J, Lesnik Oberstein, J, Haan
Publikováno v:
Panminerva medica. 46(4)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset hereditary syndrome characterized by recurrent TIAs and strokes, cognitive decline and dementia, migraine with aura (+/-40% of pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df8ae921f943ac0f60d79e0be2c09cdd
https://pubmed.ncbi.nlm.nih.gov/15876982
https://pubmed.ncbi.nlm.nih.gov/15876982
Autor:
Huub A. M. Middelkoop, Joost Haan, A.T.J.M. Helderman-van den Enden, H.B. Ginjaar, Michael K. Liem, J. van der Grond, S. A. J. Lesnik Oberstein
Publikováno v:
Journal of the Neurological Sciences. 283:294-295
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93ff41229d4dff585c26a830d31aea1b
https://doi.org/10.1016/j.jns.2009.02.208
https://doi.org/10.1016/j.jns.2009.02.208