Search Results - "Bird, T.D."
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Secreted amyloid β-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease
Published in Nature medicine (01-08-1996)“…To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid beta-protein precursor (APP) mutations linked to familial Alzheimer's disease (FAD)…”
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2
Late-onset SCA2 : 33 CAG repeats are sufficient to cause disease
Published in Neurology (22-08-2000)Get full text
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3
Late-Onset Huntington’s Disease: A Review of 41 Cases
Published in Neurotherapeutics (01-04-2008)Get full text
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4
β-Synuclein gene alterations in dementia with Lewy bodies
Published in Neurology (14-09-2004)“…To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely…”
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5
A Novel X-linked 4-Repeat Tauopathy with Parkinsonism and Spasticity
Published in Movement disorders (30-07-2010)“…The parkinsonian syndromes comprise a highly heterogeneous group of disorders. Although 15 loci are linked to predominantly familial Parkinson’s disease (PD),…”
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6
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions
Published in Neurology (22-02-2000)“…To describe the clinical features, neuropathology, and genetic studies in a family with autosomal dominant frontotemporal dementia (FTD). Clinical Pick's…”
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Apolipoprotein E genotype and Alzheimer's disease
Published in The Lancet (British edition) (18-09-1993)Get more information
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Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease
Published in Archives of neurology (Chicago) (01-04-2008)“…A majority of mutations within the beta-amyloid region of the amyloid precursor protein (APP) gene cause inherited forms of intracerebral hemorrhage. Most of…”
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9
Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes
Published in Neuromuscular disorders : NMD (01-10-2002)“…Charcot–Marie–Tooth Hereditary Neuropathy is a heterogeneous syndrome associated with mutations in several different genes including peripheral myelin protein…”
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10
Linkage and mutational analysis of familial alzheimer disease kindreds for the APP gene region
Published in American journal of human genetics (01-11-1992)“…A large number of familial Alzheimer disease (FAD) kindreds were examined to determine whether mutations in the amyloid precursor protein (APP) gene could be…”
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11
Parkinson's disease, CYP2D6 polymorphism, and age
Published in Neurology (22-05-2001)“…PD may be caused by genetic susceptibility to neurotoxins. CYP2D6 is a candidate gene for PD because it regulates drug and toxin metabolism, but association…”
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12
Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44-50, 2004)
Published in American journal of medical genetics. Part A (15-11-2005)Get full text
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13
"Pure" hereditary spastic paraplegias: the story becomes complicated
Published in Neurology (13-07-1999)Get full text
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Chromosome 14 and late-onset familial Alzheimer disease (FAD)
Published in American journal of human genetics (01-09-1993)“…Familial Alzheimer disease (FAD) is genetically heterogeneous. Two loci responsible for early-onset FAD have been identified: the amyloid precursor protein…”
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15
Impotence associated with the Charcot-Marie-Tooth syndrome
Published in European neurology (1994)“…We report 7 men (ages 45-61 years) with impotence associated with the Charcot-Marie-Tooth syndrome (CMT). The range of onset of erectile dysfunction varied…”
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16
Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers
Published in American journal of human genetics (1992)“…This study demonstrates a clear and current role for multicolor in situ hybridization in expediting positional cloning studies of unknown disease genes. Nine…”
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17
Nineteen year EMG/nerve conduction study follow-up of a family with X-linked neuropathy
Published in Electroencephalography and clinical neurophysiology (01-03-1996)Get full text
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18
Hazardous lead release from glazed dinnerware: a cautionary note
Published in The Science of the total environment (01-09-1985)“…Numerous pieces of contemporary glazed pottery dinnerware made in Italy and Mexico have been shown to release excessive amounts of lead, greater than 1000 ppm…”
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19
The genetics of Alzheimer's disease
Published in Biomedicine & pharmacotherapy (1989)“…Genetic factors play a major role in some if not all cases of Alzheimer's disease (AD). In certain rare families, the disease is most likely inherited as an…”
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20
Triassic gas potential seen high in western Canada plains region
Published in The Oil & gas journal (05-12-1994)“…Geological analysis and statistical assessment of Triassic gas resources in the plains portion of the Western Canada sedimentary basin suggest that 51% of the…”
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