Literature DB >> 34739617

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.

Michele Ragno1, Luigi Pianese2, Sara Tiberi3, Gabriella Cacchiò3, Cristina Paci3, Luigi Trojano4.   

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Year:  2021        PMID： 34739617     DOI： 10.1007/s10072-021-05706-0

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


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  8 in total

1.  CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Authors:  Silvia Bianchi; Enza Zicari; Alessandra Carluccio; Ilaria Di Donato; Francesca Pescini; Serena Nannucci; Raffaella Valenti; Michele Ragno; Domenico Inzitari; Leonardo Pantoni; Antonio Federico; Maria Teresa Dotti
Journal:  J Neurol       Date:  2014-10-26       Impact factor: 4.849

2.  Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.

Authors:  A Joutel; C Corpechot; A Ducros; K Vahedi; H Chabriat; P Mouton; S Alamowitch; V Domenga; M Cécillion; E Marechal; J Maciazek; C Vayssiere; C Cruaud; E A Cabanis; M M Ruchoux; J Weissenbach; J F Bach; M G Bousser; E Tournier-Lasserve
Journal:  Nature       Date:  1996-10-24       Impact factor: 49.962

3.  First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.

Authors:  Raffaella Valenti; Silvia Bianchi; Francesca Pescini; Camilla D'Eramo; Domenico Inzitari; Maria Teresa Dotti; Leonardo Pantoni
Journal:  J Neurol       Date:  2011-03-16       Impact factor: 4.849

4.  "CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.

Authors:  Michele Ragno; Luigi Pianese; Manrico Morroni; Gabriella Cacchiò; Antonio Manca; Fabio Di Marzio; Serena Silvestri; Cristina Miceli; Maria Scarcella; Marco Onofrj; Luigi Trojano
Journal:  Neurol Sci       Date:  2013-04-10       Impact factor: 3.307

5.  Homozygosity and severity of phenotypic presentation in a CADASIL family.

Authors:  Claudia Vinciguerra; Alessandra Rufa; Silvia Bianchi; Antonio Sperduto; Monica De Santis; Alessandro Malandrini; Maria Teresa Dotti; Antonio Federico
Journal:  Neurol Sci       Date:  2013-11-26       Impact factor: 3.307

6.  Recurrent transient global amnesia as presenting symptoms of CADASIL.

Authors:  Luca Pradotto; Laura Orsi; Monica Mencarelli; Marcella Caglio; Danilo Lauro; Alessandra Milesi; Anna Di Blasio; Alessandro Mauro
Journal:  Clin Case Rep       Date:  2016-09-28

7.  A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.

Authors:  Yuka Ebihara; Hitoshi Mochizuki; Nobuyuki Ishii; Ikuko Mizuta; Kazutaka Shiomi; Toshiki Mizuno; Masamitsu Nakazato
Journal:  Intern Med       Date:  2018-05-18       Impact factor: 1.271

8.  Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.

Authors:  M Mancuso; M Arnold; A Bersano; A Burlina; H Chabriat; S Debette; C Enzinger; A Federico; A Filla; J Finsterer; D Hunt; S Lesnik Oberstein; E Tournier-Lasserve; H S Markus
Journal:  Eur J Neurol       Date:  2020-03-20       Impact factor: 6.089
  8 in total
  1 in total

1.  Elderly CADASIL patients with intact neurological status.

Authors:  Ruiting Zhang; Elisa Ouin; Lina Grosset; Karine Ighilkrim; Jessica Lebenberg; Stéphanie Guey; Véronique François; Elisabeth Tournier-Lasserve; Eric Jouvent; Hugues Chabriat
Journal:  J Stroke       Date:  2022-09-30       Impact factor: 8.632
  1 in total

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