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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
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Foster, Norman L. | Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. | A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed t... | Older people, 80 and over; Membrane Proteins; Neuropsychological Tests | 2004-05-25 |
| 2 |
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Digre, Kathleen B.; Couldwell, William T.; Amini, Amin | Photophobia in a blind patient: An alternate visual pathway. Case report. | Photophobia is a common neurological and ophthalmological symptom that has been associated with a growing number of neurosurgical conditions, especially compressive lesions. The exact signaling pathways and neurophysiological features of the disorder are not well understood; however, data from multi... | Photophobia, Blindness, Signaling Pathway, Pretectal Nuclei, Trigeminal Pathway | 2006-12-14 |
| 3 |
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Digre, Kathleen B.; Skuster, Denise Z. | Neurologic conditions presenting as psychiatric disorders. | Understanding underlying neuroanatomic function helps physicians to localize defects and search for treatable neurologic conditions. Neurologic conditions such as Huntington's chorea, Wilson's disease, Gille de la Tourette syndrome, brain tumors, encephalitis and meningitis, neurodegenerative condit... | Psychiatric Diagnosis; Neurologic Disease | 1992-06-15 |
| 4 |
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Levy, James A. | Context-specific memory and apolipoprotein E (ApoE) epsilon 4: cognitive evidence from the NIMH prospective study of risk for Alzheimer's disease. | The aim of the study was to determine whether the epsilon 4 allele of the apolipoprotein E (ApoE) gene was associated primarily with context-specific memory among individuals at genetic risk for developing Alzheimer's disease. The effect of ApoE status on comprehensive neuropsychological results was... | Alleles; Apolipoprotein E4; Mental Status Schedule | 2004-05-10 |
| 5 |
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Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J. | Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. | The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W... | Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis | 1994-08 |
| 6 |
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Agarwal, Nivedita | Microstructural thalamic changes in schizophrenia: a combined anatomic and diffusion weighted magnetic resonance imaging study | Objective: Several magnetic resonance imaging (MRI) and postmortem studies have supported the role of the thalamus in the pathophysiology of schizophrenia. Interestingly, a recent small diffusion weighted imaging (DWI) study showed abnormal thalamic microstructure in patients with schizophrenia. The... | 2008-01-01 | |
| 7 |
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Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J. | Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission. | The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co... | Genetics; Biosynthesis; SCA7 Gene | 1998-03-07 |
| 8 |
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Jaeckle, Kurt A.; Digre, Kathleen B.; Jones, Christopher R.; Bailey, Peter L. | Central neurogenic hyperventilation: pharmacologic intervention with morphine sulfate and correlative analysis of respiratory, sleep, and ocular motor dysfunction. | Central neurogenic hyperventilation (CNH), for which there is no effective therapy, can eventually result in respiratory fatigue and death. This report describes a patient with CNH due to a brainstem anaplastic astrocytoma who also exhibited disturbances of sleep and ocular motor function. The CNH r... | Central Neurogenic H yperventilation; Ocular Motor Dysfunction | 1990-11 |
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