Publications by authors named "Kelly A Rich"

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MuSK Regulates Neuromuscular Junction Nav1.4 Localization and Excitability.
Lauren A Fish, Madison D Ewing, Kelly A Rich, Chengjie Xi, Isabella Chen, Mark M Rich

J Neurosci· April 2025

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Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study.
Alayne P Meyer, Cara L Barnett, Katherine Myers, Carly E Siskind, Tia Moscarello, Kelly A Rich

J Med Genet· March 2024

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Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
Megan G Pino, Kelly A Rich, Nicholas J Hall, Meredith L Jones, Ashley Fox

Hum Mol Genet· November 2023

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Impaired motor unit recovery and maintenance in a knock-in mouse model of ALS-associated Kif5a variant.
Kelly A Rich, Megan G Pino, Mehmet E Yalvac, Ashley Fox, Hallie Harris

Neurobiol Dis· June 2023

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Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets.
Kelly A Rich, Christopher G Wier, Jessica Russo, Lingling Kong, Patrick L Heilman

Gene Ther· September 2022

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Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with Nusinersen.
Kelly A Rich, Ashley Fox, Mehmet Yalvac, Sarah Heintzman, Marco Tellez

J Neuromuscul Dis· February 2022

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Continual cerebrospinal fluid sampling in the neonatal domestic piglet for biomarker and discovery studies.
Megan G Pino, Ranjit Ganguly, Kelly A Rich, Ashley Fox, Lori Mattox

J Neurosci Methods· January 2022

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Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.
Jennifer Roggenbuck, Kelly A Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder

Neurol Genet· October 2021

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Update on Biomarkers in Spinal Muscular Atrophy.
Megan G Pino, Kelly A Rich, Stephen J Kolb

Biomark Insights· August 2021

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Getting comfortable with disability: The short- and long-term effects of a clinical encounter.
Jill M Crane, Jesse G Strickler, A Todd Lash, Allison Macerollo, Jessica A Prokup, Kelly A Rich

Disabil Health J· April 2021

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Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis.
Kelly A Rich, Jennifer Roggenbuck, Stephen J Kolb

Front Neurosci· January 2021

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Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy.
Kelly A Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A Tan

Mol Genet Genomic Med· October 2020

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