C
Chelsea Bacon
Researcher at Roy J. and Lucille A. Carver College of Medicine
Publications - 17
Citations - 747
Chelsea Bacon is an academic researcher from Roy J. and Lucille A. Carver College of Medicine. The author has contributed to research in topics: Myelin protein zero & Rasch model. The author has an hindex of 11, co-authored 16 publications receiving 507 citations. Previous affiliations of Chelsea Bacon include University of South Florida & University of Iowa Hospitals and Clinics.
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Journal ArticleDOI
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
Vera Fridman,Brian N. Bundy,Mary M. Reilly,Davide Pareyson,Chelsea Bacon,Joshua Burns,John W. Day,Shawna M. E. Feely,Richard S. Finkel,Tiffany Grider,Callyn A. Kirk,David N. Herrmann,Matilde Laura,Jun Li,Thomas E. Lloyd,Charlotte J. Sumner,Francesco Muntoni,Giuseppe Piscosquito,Sindhu Ramchandren,Sindhu Ramchandren,R Shy,Carly E. Siskind,Sabrina W. Yum,Isabella Moroni,Emanuela Pagliano,Stephan Züchner,Steven S. Scherer,Michael E. Shy,Michael E. Shy +28 more
TL;DR: This study confirms that it is possible to assess patients in a uniform way between international centres, which is critical for the planned natural history study and future clinical trials, and confirms that large numbers of patients with a representative variety of CMT subtypes have been enrolled.
Journal ArticleDOI
A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease
Michael A. Gonzalez,Shawna M. E. Feely,Fiorella Speziani,Alleene V. Strickland,Matt C. Danzi,Chelsea Bacon,YouJin Lee,Tsui-Fen Chou,Susan H. Blanton,Conrad C. Weihl,Stephan Züchner,Michael E. Shy +11 more
TL;DR: Functional studies showed that the Glu185Lys variant impaired autophagic function leading to the accumulation of immature autophagosomes, and should be considered for genetically undefined Charcot-Marie-Tooth disease type 2.
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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese,Andrea Cortese,Andrea Cortese,Yi Zhu,Adriana P. Rebelo,Sara Negri,Steve Courel,Lisa Abreu,Chelsea Bacon,Yunhong Bai,Dana M. Bis-Brewer,Enrico Bugiardini,Elena Buglo,Matt C. Danzi,Shawna M. E. Feely,Alkyoni Athanasiou-Fragkouli,Nourelhoda A Haridy,Nourelhoda A Haridy,Rosario Isasi,Alaa Khan,Matilde Laura,Stefania Magri,Menelaos Pipis,Chiara Pisciotta,Eric Powell,Alexander M. Rossor,Paola Saveri,Janet E. Sowden,Stefano Tozza,Jana Vandrovcova,Julia E. Dallman,Elena Grignani,Enrico Marchioni,Steven S. Scherer,Beisha Tang,Zhiqiang Lin,Abdullah Al-Ajmi,Rebecca Schüle,Matthis Synofzik,Thierry Maisonobe,Tanya Stojkovic,Michaela Auer-Grumbach,Mohamed A. Abdelhamed,Sherifa A. Hamed,Ruxu Zhang,Fiore Manganelli,Lucio Santoro,Franco Taroni,Davide Pareyson,Henry Houlden,David N. Herrmann,Mary M. Reilly,Michael E. Shy,R. Grace Zhai,Stephan Züchner +54 more
TL;DR: Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors and may contribute to a better understanding of the pathophysiology of diabetes.
Journal ArticleDOI
Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene
Oranee Sanmaneechai,Oranee Sanmaneechai,Shawna M. E. Feely,Steven S. Scherer,David N. Herrmann,Joshua Burns,Francesco Muntoni,Jun Li,Carly E. Siskind,John W. Day,Matilde Laura,Charlotte J. Sumner,Thomas E. Lloyd,Sindhu Ramchandren,R Shy,Tiffany Grider,Chelsea Bacon,Richard S. Finkel,Sabrina W. Yum,Sabrina W. Yum,Isabella Moroni,Giuseppe Piscosquito,Davide Pareyson,Mary M. Reilly,Michael E. Shy +24 more
TL;DR: It is demonstrated that virtually all MPZ mutations are associated with specific phenotypes and will provide the baseline data necessary for clinical trials of patients with Charcot-Marie-Tooth disease caused by MPZ gene mutations.
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Psychometrics evaluation of Charcot-Marie-Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis.
Reza Sadjadi,Mary M. Reilly,Michael E. Shy,Davide Pareyson,Matilde Laura,Sinéad M. Murphy,Shawna M. E. Feely,Tiffany Grider,Chelsea Bacon,Giuseppe Piscosquito,Daniela Calabrese,Ted M. Burns +11 more
TL;DR: Weighted category responses represent a more accurate estimate of actual values measuring disease severity and therefore could potentially be used in improving the current version ofarcot‐Marie‐Tooth Neuropathy Score second version.