Publication Detail
The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.
Molecular genetics of neurodegenerative diseases.
A D Roses (Profiled Author: Roses, Allen D)
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Current opinion in neurology and neurosurgery 1993;6(1):34-9.
Recent progress in human neurogenetics has led to the discovery of new modes of inheritance and disease expression, including 1) stably inherited duplications in Charcot-Marie-Tooth disease type 1a, 2) dynamic mutations in fragile X syndrome and myotonic dystrophy, and 3) identical mutations with different phenotypes in fatal familial insomnia and Creutzfeldt-Jakob disease. The mechanisms by which known mutations of the amyloid precursor protein lead to early-onset Alzheimer's disease remain unexplained, despite hundreds of recent studies of beta-amyloid.
2 Originating Grant
-
1.
ROSES, ALLEN D
GENETICS OF LATE AND EARLY ONSET ALZHEIMERS DISEASE
1 August 1988 - 31 July 1996
NATIONAL INSTITUTE ON AGING
Total Funding: $ 5,327,551
-
2.
ROSES, ALLEN D
HETEROZYGOTE DIAGNOSIS IN MYOTONIC MUSCULAR DYSTROPHY
1 July 1983 - 31 March 1992
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 1,923,787
Scientific Context
This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.
Related Grants
-
1.
Rogers, Jack T
RNA Targeted Screens of the Prion 5'UTR
30 September 2008 - 31 August 2010
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 269,917
-
2.
MILLER, BRUCE L
New Approaches to Dementia Heterogeneity
15 May 2004 - 31 March 2014
NATIONAL INSTITUTE ON AGING
Total Funding: $ 14,656,380
-
3.
PERICAK-VANCE, MARGARET A
LINKAGE IN HUNTINGTON DISEASE AND NEUROFIBROMATOSIS
1 June 1986 - 31 December 1988
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 598,363
Related Publications
-
1.
1996K Silander; P Meretoja; E Nelis; V Timmerman; C Van Broeckhoven; P Aula; M L Savontaus
Human mutation 1996;8(4):304-10. -
2.
1998P Young; F Stögbauer; H Wiebusch; A Löfgren; V Timmerman; C Van Broeckhoven; E B Ringelstein; G Assmann; H Funke
Neurology 1998;50(3):760-3. -
3.
1992J E Hoogendijk; G W Hensels; A A Gabreëls-Festen; F J Gabreëls; E A Janssen; P de Jonghe; J J Martin; C van Broeckhoven; L J Valentijn; F Baas
De-novo mutation in hereditary motor and sensory neuropathy type I.
Lancet 1992;339(8801):1081-2.
Related Topics
Appears in this Publication
Related Experts
Author of this Publication
-
Internal ExpertsPublications
-
571









-
418









-
320









-
498









-
572









-
439










