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John VanSwieten
Publications 371
Published on Apr 15, 2019in Scientific Reports 4.12
Ruben Smith18
Estimated H-index: 18
(Lund University),
Alexander Frizell Santillo9
Estimated H-index: 9
(Lund University)
+ 7 AuthorsOskar Hansson61
Estimated H-index: 61
(Lund University)
Retention of 18F-Flortaucipir is reportedly increased in the semantic variant of primary progressive aphasia (svPPA), which is dominated by TDP-43 pathology. However, it is unclear if 18F-Flortaucipir is also increased in other TDP-43 diseases, such as bvFTD caused by a C9orf72 gene mutation. We therefore recruited six C9orf72 expansion carriers, six svPPA patients, and 54 healthy controls. All underwent 18F-Flortaucipir PET and MRI scanning. Data from 39 Alzheimer’s Disease patients were used f...
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Published on Jun 1, 2019in Acta Neuropathologica 15.88
Cyril Pottier15
Estimated H-index: 15
(Mayo Clinic),
Yingxue Ren2
Estimated H-index: 2
(Mayo Clinic)
+ 102 AuthorsElizabeth Christopher3
Estimated H-index: 3
(Mayo Clinic)
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) represents the most common pathological subtype of FTLD. We established the international FTLD-TDP whole-genome sequencing consortium to thoroughly characterize the known genetic causes of FTLD-TDP and identify novel genetic risk factors. Through the study of 1131 unrelated Caucasian patients, we estimated that C9orf72 repeat expansions and GRN loss-of-function mutations account for 25.5% and ...
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Published on Jun 1, 2019in Acta Neuropathologica 15.88
Rita Cacace4
Estimated H-index: 4
(University of Antwerp),
Bavo Heeman5
Estimated H-index: 5
(University of Antwerp)
+ 26 AuthorsMojca Strazisar7
Estimated H-index: 7
(University of Antwerp)
Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of neurodegeneration. In this study, we used paired-end short-read and direct long-read whole genome sequencing to investigate an unresolved autosomal dominant dementia family significantly linked to 7q36. We identified and validated a chromosomal inversion of ca. 4 Mb, segregating on the disea...
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Published on May 23, 2019in Journal of Neurology, Neurosurgery, and Psychiatry 7.14
Lieke H.H. Meeter7
Estimated H-index: 7
(EUR: Erasmus University Rotterdam),
Rebecca M. E. Steketee6
Estimated H-index: 6
(EUR: Erasmus University Rotterdam)
+ 44 AuthorsNicholas Olney2
Estimated H-index: 2
(UCSF: University of California, San Francisco)
Background Semantic dementia (SD) is a neurodegenerative disorder characterised by progressive language problems falling within the clinicopathological spectrum of frontotemporal lobar degeneration (FTLD). The development of disease-modifying agents may be facilitated by the relative clinical and pathological homogeneity of SD, but we need robust monitoring biomarkers to measure their efficacy. In different FTLD subtypes, neurofilament light chain (NfL) is a promising marker, therefore we invest...
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