Literature DB >> 19153638

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.

Michael K Liem, Saskia A J Lesnik Oberstein, Magdalena J Vollebregt, Huub A M Middelkoop, Jeroen van der Grond, Apollonia T J M Helderman-van den Enden.   

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Year:  2009        PMID： 19153638     DOI： 10.1007/s00415-009-0036-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  8 in total

1.  Quantitative MRI in CADASIL: correlation with disability and cognitive performance.

Authors:  M Dichgans; M Filippi; R Brüning; G Iannucci; C Berchtenbreiter; L Minicucci; I Uttner; A Crispin; H Ludwig; T Gasser; T A Yousry
Journal:  Neurology       Date:  1999-04-22       Impact factor: 9.910

2.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

3.  Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.

Authors:  A Joutel; K Vahedi; C Corpechot; A Troesch; H Chabriat; C Vayssière; C Cruaud; J Maciazek; J Weissenbach; M G Bousser; J F Bach; E Tournier-Lasserve
Journal:  Lancet       Date:  1997-11-22       Impact factor: 79.321

Review 4.  Physiology and pathology of notch signalling system.

Authors:  Silvia Bianchi; Maria Teresa Dotti; Antonio Federico
Journal:  J Cell Physiol       Date:  2006-05       Impact factor: 6.384

5.  An animal model for the molecular genetics of CADASIL. (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).

Authors:  K J Fryxell; M Soderlund; T V Jordan
Journal:  Stroke       Date:  2001-01       Impact factor: 7.914

6.  Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.

Authors:  S Tuominen; V Juvonen; K Amberla; T Jolma; J O Rinne; S Tuisku; T Kurki; R Marttila; M Pöyhönen; M L Savontaus; M Viitanen; H Kalimo
Journal:  Stroke       Date:  2001-08       Impact factor: 7.914

7.  Fully automatic segmentation of white matter hyperintensities in MR images of the elderly.

Authors:  F Admiraal-Behloul; D M J van den Heuvel; H Olofsen; M J P van Osch; J van der Grond; M A van Buchem; J H C Reiber
Journal:  Neuroimage       Date:  2005-08-29       Impact factor: 6.556

8.  Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

Authors:  S A Oberstein; M D Ferrari; E Bakker; J van Gestel; A L Kneppers; R R Frants; M H Breuning; J Haan
Journal:  Neurology       Date:  1999-06-10       Impact factor: 9.910
  8 in total
  11 in total

Review 1.  Notch and disease: a growing field.

Authors:  Angeliki Louvi; Spyros Artavanis-Tsakonas
Journal:  Semin Cell Dev Biol       Date:  2012-02-20       Impact factor: 7.727

Review 2.  Cerebrovascular disorders associated with genetic lesions.

Authors:  Philipp Karschnia; Sayoko Nishimura; Angeliki Louvi
Journal:  Cell Mol Life Sci       Date:  2018-10-16       Impact factor: 9.261

3.  "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

4.  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

5.  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Authors:  Radi Shahien; Silvia Bianchi; Abdalla Bowirrat
Journal:  Neuropsychiatr Dis Treat       Date:  2011-06-20       Impact factor: 2.570

Review 6.  Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.

Authors:  Ilaria Di Donato; Silvia Bianchi; Nicola De Stefano; Martin Dichgans; Maria Teresa Dotti; Marco Duering; Eric 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
Journal:  BMC Med       Date:  2017-02-24       Impact factor: 8.775

Review 7.  Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.

Authors:  Vo Van Giau; Eva Bagyinszky; Young Chul Youn; Seong Soo A An; Sang Yun Kim
Journal:  Int J Mol Sci       Date:  2019-09-03       Impact factor: 5.923

8.  Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.

Authors:  Tatiana Orme; Dena Hernandez; Owen A Ross; Celia Kun-Rodrigues; Lee Darwent; Claire E Shepherd; Laura Parkkinen; Olaf Ansorge; Lorraine Clark; Lawrence S Honig; Karen Marder; Afina Lemstra; Ekaterina Rogaeva; Peter St George-Hyslop; Elisabet Londos; Henrik Zetterberg; Kevin Morgan; Claire Troakes; Safa Al-Sarraj; Tammaryn Lashley; Janice Holton; Yaroslau Compta; Vivianna Van Deerlin; John Q Trojanowski; Geidy E Serrano; Thomas G Beach; Suzanne Lesage; Douglas Galasko; Eliezer Masliah; Isabel Santana; Pau Pastor; Pentti J Tienari; Liisa Myllykangas; Minna Oinas; Tamas Revesz; Andrew Lees; Brad F Boeve; Ronald C Petersen; Tanis J Ferman; Valentina Escott-Price; Neill Graff-Radford; Nigel J Cairns; John C Morris; Stuart Pickering-Brown; David Mann; Glenda Halliday; David J Stone; Dennis W Dickson; John Hardy; Andrew Singleton; Rita Guerreiro; Jose Bras
Journal:  Acta Neuropathol Commun       Date:  2020-01-29       Impact factor: 7.801

Review 9.  Genetic architecture of common non-Alzheimer's disease dementias.

Authors:  Rita Guerreiro; Elizabeth Gibbons; Miguel Tábuas-Pereira; Celia Kun-Rodrigues; Gustavo C Santo; Jose Bras
Journal:  Neurobiol Dis       Date:  2020-05-19       Impact factor: 5.996

10.  Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Authors:  Yi-Chu Liao; Cheng-Tsung Hsiao; Jong-Ling Fuh; Chang-Ming Chern; Wei-Ju Lee; Yuh-Cherng Guo; Shuu-Jiun Wang; I-Hui Lee; Yo-Tsen Liu; Yen-Feng Wang; Feng-Chi Chang; Ming-Hung Chang; Bing-Wen Soong; Yi-Chung Lee
Journal:  PLoS One       Date:  2015-08-26       Impact factor: 3.240
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