J
J. Nicholas Cochran
Researcher at University of Alabama at Birmingham
Publications - 35
Citations - 963
J. Nicholas Cochran is an academic researcher from University of Alabama at Birmingham. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 12, co-authored 26 publications receiving 622 citations. Previous affiliations of J. Nicholas Cochran include University of California, San Francisco & Auburn University.
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Journal ArticleDOI
Genomic diagnosis for children with intellectual disability and/or developmental delay
Kevin M. Bowling,Michelle L. Thompson,Michelle D. Amaral,Candice R. Finnila,Susan M. Hiatt,Krysta L. Engel,J. Nicholas Cochran,Kelly M. East,David E. Gray,Whitley V. Kelley,Neil E. Lamb,Edward J. Lose,Carla A. Rich,Shirley Simmons,Jana Whittle,Benjamin T. Weaver,Amy S. Nesmith,Richard M. Myers,Gregory S. Barsh,E. Martina Bebin,Gregory M. Cooper +20 more
TL;DR: The data strongly support the value of large-scale sequencing, especially WGS within proband-parent trios, as both an effective first-choice diagnostic tool and means to advance clinical and research progress related to pediatric neurological disease.
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Amyloid-β signals through tau to drive ectopic neuronal cell cycle re-entry in Alzheimer's disease
Matthew E. Seward,Eric Swanson,Andrés Norambuena,Anja Reimann,J. Nicholas Cochran,Rong Li,Erik D. Roberson,George S. Bloom +7 more
TL;DR: It is reported that this ectopic cell cycle re-entry (CCR) requires soluble amyloid-&b gr; (A&bgr;) and tau, the respective building blocks of the insoluble plaques and tangles that accumulate in AD brain.
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The Dendritic Hypothesis for Alzheimer’s Disease Pathophysiology
TL;DR: Dendritic neuropathology in the disease is detailed and how Aβ, tau, and AD genetic risk factors affect dendritic structure and function is examined to support the concept of a "dendritic hypothesis" of AD.
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Therapeutic Response in Feline Sandhoff Disease Despite Immunity to Intracranial Gene Therapy
Allison M. Bradbury,J. Nicholas Cochran,Victoria J. McCurdy,Aime K. Johnson,Brandon L. Brunson,Heather L. Gray-Edwards,Stanley G. LeRoy,Misako Hwang,Ashley N. Randle,Laura S Jackson,Nancy E. Morrison,Rena C. Baek,Thomas N. Seyfried,Seng H. Cheng,Nancy R. Cox,Henry J. Baker,M. Begoña Cachón-González,Timothy M. Cox,Miguel Sena-Esteves,Douglas R. Martin +19 more
TL;DR: These studies support the therapeutic potential of AAV vectors for SD and underscore the importance of species-specific cDNAs for translational research.
Journal ArticleDOI
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Gemma L. Carvill,Krysta L. Engel,Aishwarya Ramamurthy,J. Nicholas Cochran,Jolien Roovers,Hannah Stamberger,Nicholas Lim,Amy L Schneider,Georgie Hollingsworth,Dylan H Holder,Brigid M. Regan,James M.J. Lawlor,Lieven Lagae,Berten Ceulemans,E. Martina Bebin,John Nguyen,Gregory S. Barsh,Sarah Weckhuysen,Miriam H. Meisler,Samuel F. Berkovic,Peter De Jonghe,Ingrid E. Scheffer,Richard M. Myers,Gregory M. Cooper,Heather C Mefford +24 more
TL;DR: Evidence is provided that five of these variants promote inclusion of a "poison" exon that leads to reduced amounts of full-length SCN1A protein, likely to be broadly relevant to human disease.