Publications by authors named "Carrie Stephan"

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UDP-glucose dehydrogenase variants cause dystroglycanopathy.
Anna M Reelfs, Carrie M Stephan, Theresa M Czech, Mary O Cox, Soumya Joseph

Ann Clin Transl Neurol· June 2025

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Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Anna M Reelfs, Carrie M Stephan, Shelley R H Mockler, Katie M Laubscher, M Bridget Zimmerman

Neuromuscul Disord· June 2023

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Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).
Joshua L Hagedorn, Taylor M Dunn, Sajag Bhattarai, Carrie Stephan, Katherine D Mathews

Doc Ophthalmol· February 2023

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Diagnostic delay in patients with FKRP-related muscular dystrophy.
Lauren N Coffey, Carrie M Stephan, M B Zimmerman, Chyan K Decker, Katherine D Mathews

Neuromuscul Disord· December 2021

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The outcomes and experience of pregnancy in limb girdle muscular dystrophy type R9.
Eric M Libell, Noelle C Bowdler, Carrie M Stephan, Miriam Bridget Zimmerman, Amber M Gedlinske

Muscle Nerve· June 2021

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Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Eric M Libell, Julia A Richardson, Katie L Lutz, Benton Y Ng, Shelley R H Mockler, Carrie M Stephan

Muscle Nerve· November 2020

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Motor outcome measures in patients with mutations: A longitudinal follow-up.
Amber M Gedlinske, Carrie M Stephan, Shelley R H Mockler, Katie M Laubscher, Karla S Laubenthal

Neurology· October 2020

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Illness-associated muscle weakness in dystroglycanopathies.
Courtney R Carlson, Steven D McGaughey, Jamie M Eskuri, Carrie M Stephan, M Bridget Zimmerman

Neurology· December 2017

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Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Julia A Collison

J Child Neurol· February 2017

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Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Brianna N Brun, Shelley R H Mockler, Katie M Laubscher, Carrie M Stephan, Anne M Wallace

Neurology· February 2017

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Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.
Katie L Lutz, Lenore Holte, Stephanie A Kliethermes, Carrie Stephan, Katherine D Mathews

Neurology· October 2013

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Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.
Robert M Weiss, Richard E Kerber, Jane K Jones, Carrie M Stephan, Christina J Trout

J Am Soc Echocardiogr· August 2010

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Kevin M Flanigan, Diane M Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Carrie M Stephan

Hum Mutat· December 2009

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