Literature DB >> 7825596

Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation.

L Lannfelt, K Axelman, L Lilius, H Basun.   

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Year:  1995        PMID： 7825596      PMCID： PMC1801312     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 in total

1.  Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

Authors:  J Collinge; M Poulter; M B Davis; M Baraitser; F Owen; T J Crow; A E Harding
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

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.  A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.

Authors:  M Mullan; F Crawford; K Axelman; H Houlden; L Lilius; B Winblad; L Lannfelt
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330

4.  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

5.  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

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

8.  Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.

Authors:  W J Strittmatter; A M Saunders; D Schmechel; M Pericak-Vance; J Enghild; G S Salvesen; A D Roses
Journal:  Proc Natl Acad Sci U S A       Date:  1993-03-01       Impact factor: 11.205

9.  Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.

Authors:  G D Schellenberg; T D Bird; E M Wijsman; H T Orr; L Anderson; E Nemens; J A White; L Bonnycastle; J L Weber; M E Alonso
Journal:  Science       Date:  1992-10-23       Impact factor: 47.728

10.  Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden.

Authors:  L Lannfelt; M Viitanen; K Johansson; K Axelman; L Lilius; E Almqvist; B Winblad
Journal:  Neurosci Lett       Date:  1993-04-16       Impact factor: 3.046
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  8 in total

1.  Clinical rationale of genetic testing in dementia.

Authors:  G B Frisoni; M Trabucchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-03       Impact factor: 10.154

2.  Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.

Authors:  A Tibben; M Stevens; G M de Wert; M F Niermeijer; C M van Duijn; J C van Swieten
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

3.  Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics.

Authors:  K A Quaid; J R Murrell; A M Hake; M R Farlow; B Ghetti
Journal:  J Genet Couns       Date:  2000-08       Impact factor: 2.537

4.  Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.

Authors:  Jennifer Williamson; Susan LaRusse
Journal:  Curr Neurol Neurosci Rep       Date:  2004-09       Impact factor: 5.081

Review 5.  A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

Authors:  Jane S Paulsen; Martha Nance; Ji-In Kim; Noelle E Carlozzi; Peter K Panegyres; Cheryl Erwin; Anita Goh; Elizabeth McCusker; Janet K Williams
Journal:  Prog Neurobiol       Date:  2013-09-11       Impact factor: 11.685

6.  Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Authors:  Jill S Goldman; Susan E Hahn; Jennifer Williamson Catania; Susan LaRusse-Eckert; Melissa Barber Butson; Malia Rumbaugh; Michelle N Strecker; J Scott Roberts; Wylie Burke; Richard Mayeux; Thomas Bird
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822

Review 7.  Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.

Authors:  Jill S Goldman
Journal:  Cold Spring Harb Perspect Med       Date:  2020-07-01       Impact factor: 5.159

8.  Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.

Authors:  Anna Mega; Samantha Galluzzi; Cristian Bonvicini; Silvia Fostinelli; Massimo Gennarelli; Cristina Geroldi; Orazio Zanetti; Luisa Benussi; Emilio Di Maria; Giovanni B Frisoni
Journal:  Alzheimers Res Ther       Date:  2020-11-17       Impact factor: 6.982
  8 in total

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