Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
EH Corder, AM Saunders, WJ Strittmatter… - Science, 1993 - science.org
The apolipoprotein E type 4 allele (APOE-ε4) is genetically associated with the common late
onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from …
onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from …
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage
MA Pericak-Vance, JL Bebout, PC Gaskell… - American journal of …, 1991 - ncbi.nlm.nih.gov
A genetic component in the etiology of Alzheimer disease (AD) has been supported by
indirect evidence for several years, with autosomal dominant inheritance with age …
indirect evidence for several years, with autosomal dominant inheritance with age …
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
EH Corder, AM Saunders, NJ Risch, WJ Strittmatter… - Nature …, 1994 - nature.com
Gene dosage of the apolipoprotein E (APOE) ε4 allele is a major risk factor for familial
Alzheimer disease (AD) of late onset (after age 60). Here we studied a large series of 115 …
Alzheimer disease (AD) of late onset (after age 60). Here we studied a large series of 115 …
[PDF][PDF] A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
E Reid, M Kloos, A Ashley-Koch, L Hughes… - The American Journal of …, 2002 - cell.com
We have identified a missense mutation in the motor domain of the neuronal kinesin heavy
chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the …
chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the …
Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs
JCS Breitner, KA Welsh, MJ Helms, PC Gaskell… - Neurobiology of …, 1995 - Elsevier
Factors that modify onset of Alzheimer's disease (AD) may be revealed by comparing
environmental exposures in affected and unaffected members of discordant twin pairs or …
environmental exposures in affected and unaffected members of discordant twin pairs or …
[PDF][PDF] Age at onset in two common neurodegenerative diseases is genetically controlled
To identify genes influencing age at onset (AAO) in two common neurodegenerative
diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; …
diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; …
Myotilin is mutated in limb girdle muscular dystrophy 1A
MA Hauser, SK Horrigan, P Salmikangas… - Human molecular …, 2000 - academic.oup.com
We have identified a mutation in the myotilin gene in a large North American family of
German descent expressing an autosomal dominant form of limb girdle muscular dystrophy …
German descent expressing an autosomal dominant form of limb girdle muscular dystrophy …
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene
BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane… - Cell, 1987 - cell.com
Introduction von Recklinghausen neurofibromatosis (VRNF) is one of the most frequent and
clinically important Mendelian disorders in man, with an incidence of 1 in 3000 (Crowe et al …
clinically important Mendelian disorders in man, with an incidence of 1 in 3000 (Crowe et al …
Complete genomic screen in late-onset familial Alzheimer disease: evidence for a new locus on chromosome 12
MA Pericak-Vance, MP Bass, LH Yamaoka, PC Gaskell… - Jama, 1997 - jamanetwork.com
Context.—Four genetic loci have been identified as contributing to Alzheimer disease (AD),
including the amyloid precursor protein gene, the presenilin 1 gene, the presenilin 2 gene …
including the amyloid precursor protein gene, the presenilin 1 gene, the presenilin 2 gene …
[PDF][PDF] Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically
heterogeneous diseases that affect the upper motor neurons and their axonal projections …
heterogeneous diseases that affect the upper motor neurons and their axonal projections …