Publications by authors named "Alex J Fay"

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A novel splice site variant in leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Holly C Beale, Victor Tse, Joanna Y Lee, Jon Akutagawa, Yusuph Mavura, Alex J Fay

medRxiv· April 2025

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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Sarah H Berth, Linh Vo, Do Hoon Kwon, Tiffany Grider, Yasmine S Damayanti, Alex J Fay

Brain· February 2025

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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Toni S Pearson, Nalin Gupta, Waldy San Sebastian, Jill Imamura-Ching, Amy Viehoever, Alex J Fay

Nat Commun· July 2021

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Targeted Treatments for Inherited Neuromuscular Diseases of Childhood.
Alex J Fay, Renatta Knox, Erin E Neil, Jonathan Strober

Semin Neurol· June 2020

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Neuromuscular Diseases of the Newborn.
Alex J Fay

Semin Pediatr Neurol· December 2019

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Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab.
Alex J Fay, Allison A King, Joshua S Shimony, Yanick J Crow, Jan E Brunstrom-Hernandez

Pediatr Neurol· June 2017

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Pediatric Hemorrhagic Brainstem Encephalitis Associated With HHV-7 Infection.
Alex J Fay, Michael J Noetzel, Soe S Mar

Pediatr Neurol· December 2015

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Relapse severity and recovery in early pediatric multiple sclerosis.
Alex J Fay, Ellen M Mowry, Jonathan Strober, Emmanuelle Waubant

Mult Scler· July 2012

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Microtubule plus-end-tracking proteins target gap junctions directly from the cell interior to adherens junctions.
Robin M Shaw, Alex J Fay, Manojkumar A Puthenveedu, Mark von Zastrow, Yuh-Nung Jan

Cell· February 2007

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SK channels mediate NADPH oxidase-independent reactive oxygen species production and apoptosis in granulocytes.
Alex J Fay, Xiang Qian, Yuh Nung Jan, Lily Yeh Jan

Proc Natl Acad Sci U S A· November 2006

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