Publications by authors named "Shawna Feely"

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Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Ilaria Quartesan, Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Shawna Me Feely

medRxiv· October 2025

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Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.
Rosemary Shy, Amanda Dragon, Shawna M E Feely, Gabrielle Donlevy, Kayla Cornett

J Peripher Nerv Syst· June 2025

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A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.
Danique Beijer, Maike F Dohrn, Adriana Rebelo, Matt C Danzi, Bianca Rose Grosz, Shawna Feely

Brain· January 2025

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Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Carolynne M Doherty, Paige Howard, Luke F O'Donnell, Riccardo Zuccarino, Stephen Wastling, Shawna M E Feely

Ann Neurol· July 2024

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A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A.
Isaac R L Xu, Matt C Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia De Jesus, Shawna Feely

J Peripher Nerv Syst· June 2024

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Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Carolynne M Doherty, Jasper M Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Shawna M E Feely

Ann Clin Transl Neurol· March 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Shawna M E Feely

Brain· December 2023

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Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs.
Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Shawna M E Feely

Brain· October 2023

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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Christopher J Record, Mariola Skorupinska, Matilde Laura, Alexander M Rossor, Davide Pareyson, Shawna M E Feely

Brain· October 2023

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Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely, Joshua Burns

J Peripher Nerv Syst· September 2023

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Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure.
Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely, Joshua Burns

J Peripher Nerv Syst· June 2023

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A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Rebecca Meyer-Schuman, Sheila Marte, Tyler J Smith, Shawna M E Feely, Marina Kennerson

Hum Mol Genet· June 2023

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Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.
Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, Christina Trout, Stephan Zuchner

Case Rep Neurol· June 2023

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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Vera Fridman, Stefan Sillau, Jacob Bockhorst, Kaitlin Smith, Isabella Moroni, Shawna Feely

Ann Neurol· March 2023

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MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A.
Hongge Wang, Matthew Davison, Kathryn Wang, Tai-He Xia, Katherine M Call, Shawna M E Feely

Neurology· August 2021

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Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Adriana P Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Shawna M E Feely

Brain· August 2021

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Loss of function MPZ mutation causes milder CMT1B neuropathy.
Paige Howard, Shawna M E Feely, Tiffany Grider, Alexa Bacha, Marina Scarlato

J Peripher Nerv Syst· June 2021

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A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Adriana P Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Shawna M E Feely

Brain· May 2021

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Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure.
Sindhu Ramchandren, Tong Tong Wu, Richard S Finkel, Carly E Siskind, Shawna M E Feely

Ann Neurol· February 2021

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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Menelaos Pipis, Shawna M E Feely, James M Polke, Mariola Skorupinska, Laura Perez

Brain· December 2020

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Neutral lipid-storage disease with myopathy and Jordan anomaly.
Riccardo Zuccarino, Daniel M Anderson, Carol Holman, Shawna Feely, Laurie Gutmann

Neurology· September 2020

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Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Shawna M E Feely

Nat Genet· June 2020

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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese, Yi Zhu, Adriana P Rebelo, Sara Negri, Steve Courel, Shawna M E Feely

Nat Genet· May 2020

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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Vera Fridman, Stefan Sillau, Gyula Acsadi, Chelsea Bacon, Kimberly Dooley, Shawna Feely

Neurology· March 2020

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Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
Hongge Wang, Matthew Davison, Kathryn Wang, Tai-He Xia, Martin Kramer, Shawna M E Feely

Ann Clin Transl Neurol· January 2020

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