A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome
Lu, Simin, Kanekura, Kohsuke, Hara, Takashi, Mahadevan, Jana, Spears, Larry D., Oslowski, Christine M., Martinez, Rita, Yamazaki-Inoue, Mayu, Toyoda, Masashi, Neilson, Amber, Blanner, Patrick, Brown, Cris M., Semenkovich, Clay F., Marshall, Bess A., Hershey, Tamara, Umezawa, Akihiro, Greer, Peter A., Urano, Fumihiko
Published in Proceedings of the National Academy of Sciences - PNAS (09.12.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (09.12.2014)
Get full text
Journal Article
Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism
Brar, Preneet Cheema, Heksch, Ryan, Cossen, Kristina, De Leon, Diva D, Kamboj, Manmohan K, Marks, Seth D, Marshall, Bess A, Miller, Ryan, Page, Laura, Stanley, Takara, Mitchell, Deborah, Thornton, Paul
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
Published in The journal of clinical endocrinology and metabolism (01.12.2020)
Get full text
Journal Article
2278-PUB: Longitudinal Progression of Diabetes Mellitus in Wolfram Syndrome
RAY, MARY KATHERINE, HERSHEY, TAMARA, CHEN, LING, WHITE, NEIL H., MARSHALL, BESS A.
Published in Diabetes (New York, N.Y.) (01.06.2020)
Published in Diabetes (New York, N.Y.) (01.06.2020)
Get full text
Journal Article
Phenotypic characteristics of early Wolfram syndrome
Marshall, Bess A, Permutt, M Alan, Paciorkowski, Alexander R, Hoekel, James, Karzon, Roanne, Wasson, Jon, Viehover, Amy, White, Neil H, Shimony, Joshua S, Manwaring, Linda, Austin, Paul, Hullar, Timothy E, Hershey, Tamara
Published in Orphanet journal of rare diseases (27.04.2013)
Published in Orphanet journal of rare diseases (27.04.2013)
Get full text
Journal Article
Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses
Samara, Amjad, Rahn, Rachel, Neyman, Olga, Park, Ki Yun, Samara, Ahmad, Marshall, Bess, Dougherty, Joseph, Hershey, Tamara
Published in Orphanet journal of rare diseases (03.12.2019)
Published in Orphanet journal of rare diseases (03.12.2019)
Get full text
Journal Article
Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome
Rove, Kyle O., Vricella, Gino J., Hershey, Tamara, Thu, Muang H., Lugar, Heather M., Vetter, Joel, Marshall, Bess A., Austin, Paul F.
Published in The Journal of urology (01.11.2018)
Published in The Journal of urology (01.11.2018)
Get full text
Journal Article
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency
Sandler-Wilson, Carla, Wambach, Jennifer A., Marshall, Bess A., Wegner, Daniel J., McAlister, William, Cole, F. Sessions, Shinawi, Marwan
Published in Bone (New York, N.Y.) (01.07.2019)
Published in Bone (New York, N.Y.) (01.07.2019)
Get full text
Journal Article
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells
Stone, Stephen, Abreu, Damien, Mahadevan, Jana, Asada, Rie, Kries, Kelly, Graf, Rolf, Marshall, Bess A., Hershey, Tamara, Urano, Fumihiko
Published in Scientific reports (26.03.2019)
Published in Scientific reports (26.03.2019)
Get full text
Journal Article
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome
Eisenstein, Sarah A, Boodram, Raveena S, Sutphen, Courtney L, Lugar, Heather M, Gordon, Brian A, Marshall, Bess A, Urano, Fumihiko, Fagan, Anne M, Hershey, Tamara
Published in Frontiers in neuroscience (12.04.2022)
Published in Frontiers in neuroscience (12.04.2022)
Get full text
Journal Article
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome
Abreu, Damien, Stone, Stephen I, Pearson, Toni S, Bucelli, Robert C, Simpson, Ashley N, Hurst, Stacy, Brown, Cris M, Kries, Kelly, Onwumere, Chinyere, Gu, Hongjie, Hoekel, James, Tychsen, Lawrence, Van Stavern, Gregory P, White, Neil H, Marshall, Bess A, Hershey, Tamara, Urano, Fumihiko
Published in JCI insight (09.08.2021)
Published in JCI insight (09.08.2021)
Get full text
Journal Article
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Lee, Evan M, Verma, Megha, Palaniappan, Nila, Pope, Emiko M, Lee, Sammie, Blacher, Lindsey, Neerumalla, Pooja, An, William, Campbell, Toko, Brown, Cris, Hurst, Stacy, Marshall, Bess, Hershey, Tamara, Nunes, Virginia, López de Heredia, Miguel, Urano, Fumihiko
Published in Frontiers in genetics (21.06.2023)
Published in Frontiers in genetics (21.06.2023)
Get full text
Journal Article
85-LB: A Phase 1b/2 Clinical Trial of Dantrolene Sodium in Patients with Wolfram Syndrome
ABREU, DAMIEN, PEARSON, TONI S., BUCELLI, ROBERT C., SIMPSON, ASHLEY, BROWN, CRIS M., KRIES, KELLY, GU, HONGJIE, STONE, STEPHEN I., TYCHSEN, LAWRENCE, STAVERN, GREGORY VAN, WHITE, NEIL H., MARSHALL, BESS A., HERSHEY, TAMARA, URANO, FUMIHIKO
Published in Diabetes (New York, N.Y.) (01.06.2019)
Published in Diabetes (New York, N.Y.) (01.06.2019)
Get full text
Journal Article
Sulfonylurea challenge test in subjects diagnosed with type 1 diabetes mellitus
Remedi, Maria S., Thomas, Mareen, Nichols, Colin G., Marshall, Bess A.
Published in Pediatric diabetes (01.12.2017)
Published in Pediatric diabetes (01.12.2017)
Get full text
Journal Article
Remission of severe neonatal diabetes with very early sulfonylurea treatment
Marshall, Bess A, Green, Rebecca P, Wambach, Jennifer, White, Neil H, Remedi, Maria S, Nichols, Colin G
Published in Diabetes care (01.03.2015)
Published in Diabetes care (01.03.2015)
Get full text
Journal Article
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome
Lugar, Heather M., Koller, Jonathan M., Rutlin, Jerrel, Marshall, Bess A., Kanekura, Kohsuke, Urano, Fumihiko, Bischoff, Allison N., Shimony, Joshua S., Hershey, Tamara
Published in Scientific reports (18.02.2016)
Published in Scientific reports (18.02.2016)
Get full text
Journal Article
Reliability and validity of the Wolfram Unified Rating Scale (WURS)
Nguyen, Chau, Foster, Erin R, Paciorkowski, Alexander R, Viehoever, Amy, Considine, Colleen, Bondurant, Aidena, Marshall, Bess A, Hershey, Tamara
Published in Orphanet journal of rare diseases (14.11.2012)
Published in Orphanet journal of rare diseases (14.11.2012)
Get full text
Journal Article
Selective cognitive and psychiatric manifestations in Wolfram Syndrome
Bischoff, Allison N, Reiersen, Angela M, Buttlaire, Anna, Al-Lozi, Amal, Doty, Tasha, Marshall, Bess A, Hershey, Tamara
Published in Orphanet journal of rare diseases (30.05.2015)
Published in Orphanet journal of rare diseases (30.05.2015)
Get full text
Journal Article
Insights from an Intervention to Support Early Career Faculty with Extraprofessional Caregiving Responsibilities
Szczygiel, Lauren A, Jones, Rochelle D, Drake, Amelia F, Drake, Wonder P, Ford, Daniel E, Hartmann, Katherine E, Libby, Anne M, Marshall, Bess A, Regensteiner, Judith G, Yaffe, Kristine, Jagsi, Reshma
Published in Women's health reports (New Rochelle, N.Y.) (01.08.2021)
Published in Women's health reports (New Rochelle, N.Y.) (01.08.2021)
Get full text
Journal Article
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
Astuti, Dewi, Sabir, Ataf, Fulton, Piers, Zatyka, Malgorzata, Williams, Denise, Hardy, Carol, Milan, Gabriella, Favaretto, Francesca, Yu-Wai-Man, Patrick, Rohayem, Julia, López de Heredia, Miguel, Hershey, Tamara, Tranebjaerg, Lisbeth, Chen, Jian-Hua, Chaussenot, Annabel, Nunes, Virginia, Marshall, Bess, McAfferty, Susan, Tillmann, Vallo, Maffei, Pietro, Paquis-Flucklinger, Veronique, Geberhiwot, Tarekign, Mlynarski, Wojciech, Parkinson, Kay, Picard, Virginie, Bueno, Gema Esteban, Dias, Renuka, Arnold, Amy, Richens, Caitlin, Paisey, Richard, Urano, Fumihiko, Semple, Robert, Sinnott, Richard, Barrett, Timothy G
Published in Human mutation (01.07.2017)
Published in Human mutation (01.07.2017)
Get full text
Journal Article