Literature DB >> 35024983

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

Jiri Taborsky1, Radoslav Matej2,3, Hana Vlaskova4, Jiri Keller5,6, Silvie Johanidesova1, Robert Rusina7.   

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Year:  2022        PMID： 35024983     DOI： 10.1007/s10072-022-05883-6

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

1.  Clinical, familial, and neuroimaging features of CADASIL-like patients.

Authors:  S Nannucci; F Pescini; B Bertaccini; S Bianchi; L Ciolli; R Valenti; M T Dotti; A Federico; D Inzitari; L Pantoni
Journal:  Acta Neurol Scand       Date:  2014-08-11       Impact factor: 3.209

2.  Cerebral hemorrhages in CADASIL: report of four cases and a brief review.

Authors:  Valentina Rinnoci; Serena Nannucci; Raffaella Valenti; Ida Donnini; Silvia Bianchi; Francesca Pescini; Maria Teresa Dotti; Antonio Federico; Domenico Inzitari; Leonardo Pantoni
Journal:  J Neurol Sci       Date:  2013-04-30       Impact factor: 3.181

Review 3.  Neuropathology of cerebrovascular diseases.

Authors:  Isidro Ferrer; Noemi Vidal
Journal:  Handb Clin Neurol       Date:  2017

4.  Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities.

Authors:  Joel Ramirez; Allison A Dilliott; Malcolm A Binns; David P Breen; Emily C Evans; Derek Beaton; Paula M McLaughlin; Donna Kwan; Melissa F Holmes; Miracle Ozzoude; Christopher J M Scott; Stephen C Strother; Sean Symons; Richard H Swartz; David Grimes; Mandar Jog; Mario Masellis; Sandra E Black; Anne Joutel; Connie Marras; Ekaterina Rogaeva; Robert A Hegele; Anthony E Lang
Journal:  Mov Disord       Date:  2020-06-23       Impact factor: 10.338

5.  Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease.

Authors:  Helena Schmidt; Marion Zeginigg; Marco Wiltgen; Paul Freudenberger; Katja Petrovic; Margherita Cavalieri; Pierre Gider; Christian Enzinger; Myriam Fornage; Stephanie Debette; Jerome I Rotter; Mohammad A Ikram; Lenore J Launer; Reinhold Schmidt
Journal:  Brain       Date:  2011-10-17       Impact factor: 13.501

6.  NOTCH3 and CADASIL syndrome: a genetic and structural overview.

Authors:  Eleni Papakonstantinou; Flora Bacopoulou; Dimitrios Brouzas; Vasileios Megalooikonomou; Domenica D'Elia; Erik Bongcam-Rudloff; Dimitrios Vlachakis
Journal:  EMBnet J       Date:  2019-05-22
  7 in total

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