Literature DB >> 18024701

Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.

M Anheim, D Hannequin, C Boulay, C Martin, D Campion, C Tranchant.   

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Year:  2007        PMID： 18024701      PMCID： PMC2095586          DOI： 10.1136/jnnp.2007.123026

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  13 in total

1.  Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease.

Authors:  D M Mann; S M Pickering-Brown; A Takeuchi; T Iwatsubo
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

2.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

Authors:  D Arango; M Cruts; O Torres; H Backhovens; M L Serrano; E Villareal; P Montañes; D Matallana; C Cano; C Van Broeckhoven; M Jacquier
Journal:  Am J Med Genet       Date:  2001-10-01

4.  Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

Authors:  Tobias Moehlmann; Edith Winkler; Xuefeng Xia; Dieter Edbauer; Jill Murrell; Anja Capell; Christoph Kaether; Hui Zheng; Bernardino Ghetti; Christian Haass; Harald Steiner
Journal:  Proc Natl Acad Sci U S A       Date:  2002-06-04       Impact factor: 11.205

5.  Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

Authors:  B Dermaut; S Kumar-Singh; C De Jonghe; M Cruts; A Löfgren; U Lübke; P Cras; R Dom; P P De Deyn; J J Martin; C Van Broeckhoven
Journal:  Brain       Date:  2001-12       Impact factor: 13.501

6.  Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.

Authors:  Judith Miklossy; Kevin Taddei; Domizio Suva; Giuseppe Verdile; Justin Fonte; Christopher Fisher; Anastazija Gnjec; Joseph Ghika; Françoise Suard; Pankaj D Mehta; Catriona A McLean; Colin L Masters; William S Brooks; Ralph N Martins
Journal:  Neurobiol Aging       Date:  2003-09       Impact factor: 4.673

7.  Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.

Authors:  E I Rogaev; R Sherrington; E A Rogaeva; G Levesque; M Ikeda; Y Liang; H Chi; C Lin; K Holman; T Tsuda
Journal:  Nature       Date:  1995-08-31       Impact factor: 49.962

8.  Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.

Authors:  Alessandra Piccini; Gianluigi Zanusso; Roberta Borghi; Cristiana Noviello; Salvatore Monaco; Roberta Russo; Gianluca Damonte; Andrea Armirotti; Matteo Gelati; Renzo Giordano; Pamela Zambenedetti; Claudio Russo; Bernardino Ghetti; Massimo Tabaton
Journal:  Arch Neurol       Date:  2007-05

9.  Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

Authors:  M Hutton; F Busfield; M Wragg; R Crook; J Perez-Tur; R F Clark; G Prihar; C Talbot; H Phillips; K Wright; M Baker; C Lendon; K Duff; A Martinez; H Houlden; A Nichols; E Karran; G Roberts; P Roques; M Rossor; J C Venter; M D Adams; R T Cline; C A Phillips; A Goate
Journal:  Neuroreport       Date:  1996-02-29       Impact factor: 1.837

10.  Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

Authors:  R Sherrington; E I Rogaev; Y Liang; E A Rogaeva; G Levesque; M Ikeda; H Chi; C Lin; G Li; K Holman; T Tsuda; L Mar; J F Foncin; A C Bruni; M P Montesi; S Sorbi; I Rainero; L Pinessi; L Nee; I Chumakov; D Pollen; A Brookes; P Sanseau; R J Polinsky; W Wasco; H A Da Silva; J L Haines; M A Perkicak-Vance; R E Tanzi; A D Roses; P E Fraser; J M Rommens; P H St George-Hyslop
Journal:  Nature       Date:  1995-06-29       Impact factor: 49.962
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  7 in total

1.  Difficult case of a rare form of familial Alzheimer's disease with PSEN1 P117L mutation.

Authors:  Ana Luísa Rocha; Andreia Costa; Maria Carolina Garrett; Joana Meireles
Journal:  BMJ Case Rep       Date:  2018-12-13

2.  Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.

Authors:  Pedro Braga-Neto; José Luiz Pedroso; Helena Alessi; Paulo Victor Sgobbi de Souza; Paulo Henrique Ferreira Bertolucci; Orlando Graziani Povoas Barsottini
Journal:  J Neurol       Date:  2013-03-13       Impact factor: 4.849

Review 3.  Correlating familial Alzheimer's disease gene mutations with clinical phenotype.

Authors:  Natalie S Ryan; Martin N Rossor
Journal:  Biomark Med       Date:  2010-02       Impact factor: 2.851

Review 4.  The diagnosis of young-onset dementia.

Authors:  Martin N Rossor; Nick C Fox; Catherine J Mummery; Jonathan M Schott; Jason D Warren
Journal:  Lancet Neurol       Date:  2010-08       Impact factor: 44.182

5.  Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Authors:  Chunlin You; Weike Zeng; Lingna Deng; Zhihao Lei; Xinyi Gao; Victor Wei Zhang; Yidong Wang
Journal:  Front Neurol       Date:  2020-05-05       Impact factor: 4.003

Review 6.  The genetics of Alzheimer's disease.

Authors:  Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2014-04-01       Impact factor: 4.458

7.  PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.

Authors:  Eva Bagyinszky; Hye-Mi Lee; Vo Van Giau; Seong-Beom Koh; Jee Hyang Jeong; Seong Soo A An; SangYun Kim
Journal:  Int J Mol Sci       Date:  2018-09-02       Impact factor: 5.923
  7 in total

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