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Stefanie H Freeman

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Articles 11
Citations 714
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Recent Articles
1.
Skoglund L, Matsui T, Freeman S, Wallin A, Blom E, Frosch M, et al.
Alzheimer Dis Assoc Disord . 2010 Oct; 25(2):173-8. PMID: 20975516
Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions, and linkage to chromosome 17 was recently found to be caused by mutations in the progranulin (PGRN) gene. In this study, we...
2.
Van Deerlin V, Sleiman P, Martinez-Lage M, Chen-Plotkin A, Wang L, Graff-Radford N, et al.
Nat Genet . 2010 Feb; 42(3):234-9. PMID: 20154673
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting...
3.
Brass S, Dinkin M, Williams Z, Krishnamoorthy K, Copen W, Freeman S
N Engl J Med . 2009 Dec; 361(24):2367-78. PMID: 20007563
No abstract available.
4.
Skoglund L, Ingvast S, Matsui T, Freeman S, Frosch M, Brundin R, et al.
Dement Geriatr Cogn Disord . 2009 Nov; 28(5):471-5. PMID: 19940479
Background/aims: Alterations in gene dosage have recently been associated with neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, and deletions of the progranulin (PGRN) locus were recently described in...
5.
Freeman S, Kandel R, Cruz L, Rozkalne A, Newell K, Frosch M, et al.
J Neuropathol Exp Neurol . 2008 Nov; 67(12):1205-12. PMID: 19018241
Cerebral volume loss has long been associated with normal aging, but whether this is due to aging itself or to age-related diseases, including incipient Alzheimer disease, is uncertain. To understand...
6.
Freeman S, Hyman B, Sims K, Hedley-Whyte E, Vossough A, Frosch M, et al.
Brain Pathol . 2008 Apr; 19(1):39-47. PMID: 18422757
Pigmented orthochromatic leukodystrophy and hereditary diffuse leukoencephalopathy with spheroids are two adult onset leukodystrophies with neuroaxonal spheroids presenting with prominent neurobehavioral, cognitive and motor symptoms. These are familial or sporadic...
7.
Freeman S, Spires-Jones T, Hyman B, Growdon J, Frosch M
J Neuropathol Exp Neurol . 2007 Dec; 67(1):62-7. PMID: 18091558
Pick disease (PiD) is a frontotemporal dementia characterized by frontal and temporal atrophy, neuronal loss, gliosis, ballooned neurons that are positive for alpha-B crystallin and neurofilament, and the presence of...
8.
Wendell L, Freeman S, Plotkin S, Sims J
Neurology . 2007 Dec; 69(23):E30-4. PMID: 18056573
No abstract available.
9.
Ingelsson M, Ramasamy K, Russ C, Freeman S, Orne J, Raju S, et al.
Acta Neuropathol . 2007 Aug; 114(5):471-9. PMID: 17721707
Some cases of familial frontotemporal dementia (FTD) leading to frontotemporal lobar degeneration (FTLD) are caused by mutations in tau on chromosome 17 (FTDP-17). Certain mutations alter the ratio between four...
10.
Freeman S, Raju S, Hyman B, Frosch M, Irizarry M
J Neuropathol Exp Neurol . 2007 Apr; 66(4):264-71. PMID: 17413317
Cerebral accumulation of amyloid beta protein (Abeta) is characteristic of Alzheimer disease (AD). Abeta can be detected in cerebrospinal fluid and in plasma. Although plasma Abeta has been proposed as...