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Author/Creator Smith, Kevin S.

1. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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6. P75 neurotrophin receptor interacts with and promotes BACE1 localization in endosomes aggravating amyloidogenesis. Issue 3 (27th September 2017)

Authors:
Saadipour, Khalil; Mañucat‐Tan, Noralyn B.; Lim, Yoon; Keating, Damien J.; Smith, Kevin S.; Zhong, Jin‐hua; Liao, Hong; Bobrovskaya, Larisa; Wang, Yan‐Jiang; Chao, Moses V.; Zhou, Xin‐Fu
Journal:
Journal of neurochemistry
Issue:
Volume 144:Issue 3(2018)
Page Start:
302
Record Type:
Journal Article
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8. Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Issue 6 (28th March 2017)

Authors:
Kernohan, Kristin D.; Frésard, Laure; Zappala, Zachary; Hartley, Taila; Smith, Kevin S.; Wagner, Justin; Xu, Hongbin; McBride, Arran; Bourque, Pierre R.; Consortium, Care4Rare Canada; Bennett, Steffany A. L.; Dyment, David A.; Boycott, Kym M.; Montgomery, Stephen B.; Warman Chardon, Jodi
Journal:
Human mutation
Issue:
Volume 38:Issue 6(2017)
Page Start:
611
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗