Literature DB >> 8429314

Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.

A Brice, A L Boch, G Stevanin, C Khati, B Dubois, Y Agid, D Campion, F Clerget, J Mallet, M Bellis.   

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Year:  1993        PMID： 8429314      PMCID： PMC1014781          DOI： 10.1136/jnnp.56.1.112-a

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


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  7 in total

1.  Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.

Authors:  S Naruse; S Igarashi; H Kobayashi; K Aoki; T Inuzuka; K Kaneko; T Shimizu; K Iihara; T Kojima; T Miyatake
Journal:  Lancet       Date:  1991-04-20       Impact factor: 79.321

2.  Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

Authors:  M C Chartier-Harlin; F Crawford; H Houlden; A Warren; D Hughes; L Fidani; A Goate; M Rossor; P Roques; J Hardy
Journal:  Nature       Date:  1991-10-31       Impact factor: 49.962

3.  Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

Authors:  P H St George-Hyslop; J L Haines; L A Farrer; R Polinsky; C Van Broeckhoven; A Goate; D R McLachlan; H Orr; A C Bruni; S Sorbi; I Rainero; J F Foncin; D Pollen; J M Cantu; R Tupler; N Voskresenskaya; R Mayeux; J Growden; V A Fried; R H Myers; L Nee; H Backhovens; J J Martin; M Rossor; M J Owen; M Mullan; M E Percy; H Karlinsky; S Rich; L Heston; M Montesi; M Mortilla; N Nacmias; J F Gusella; J A Hardy
Journal:  Nature       Date:  1990-09-13       Impact factor: 49.962

4.  Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.

Authors:  A Goate; M C Chartier-Harlin; M Mullan; J Brown; F Crawford; L Fidani; L Giuffra; A Haynes; N Irving; L James
Journal:  Nature       Date:  1991-02-21       Impact factor: 49.962

5.  APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.

Authors:  G D Schellenberg; L Anderson; S O'dahl; E M Wisjman; A D Sadovnick; M J Ball; E B Larson; W A Kukull; G M Martin; A D Roses
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

6.  A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.

Authors:  J Murrell; M Farlow; B Ghetti; M D Benson
Journal:  Science       Date:  1991-10-04       Impact factor: 47.728

7.  Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.

Authors:  G McKhann; D Drachman; M Folstein; R Katzman; D Price; E M Stadlan
Journal:  Neurology       Date:  1984-07       Impact factor: 9.910
  7 in total
  1 in total

1.  No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

Authors:  D Campion; A Brice; D Hannequin; F Charbonnier; B Dubois; C Martin; A Michon; C Penet; M Bellis; A Calenda; M Martinez; Y Agid; F Clerget-Darpoux; T Frebourg
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318
  1 in total

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