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Published in: Neurological Sciences 3/2022

01-03-2022 | Autopsy | Letter to the Editor

Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance

Authors: Jiri Taborsky, Radoslav Matej, Hana Vlaskova, Jiri Keller, Silvie Johanidesova, Robert Rusina

Published in: Neurological Sciences | Issue 3/2022

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Excerpt

Dear Editor, …
Literature
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go back to reference Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, Gider P, Enzinger C, Fornage M, Debette S, Rotter JI, Ikram MA, Launer LJ, Schmidt R, CHARGE consortium Neurology working group (2011) Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain 134:3384–3397. https://doi.org/10.1093/brain/awr252CrossRefPubMedPubMedCentral Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, Gider P, Enzinger C, Fornage M, Debette S, Rotter JI, Ikram MA, Launer LJ, Schmidt R, CHARGE consortium Neurology working group (2011) Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain 134:3384–3397. https://​doi.​org/​10.​1093/​brain/​awr252CrossRefPubMedPubMedCentral
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Metadata
Title
Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance
Authors
Jiri Taborsky
Radoslav Matej
Hana Vlaskova
Jiri Keller
Silvie Johanidesova
Robert Rusina
Publication date
01-03-2022
Publisher
Springer International Publishing
Keywords
Autopsy
CADASIL
Published in
Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-022-05883-6

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