Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Dean Suhr"'
Autor:
Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)
Abstract Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants re
Externí odkaz:
https://doaj.org/article/4606464433f9464689ed0c85be47519b
Autor:
Dean Suhr
Publikováno v:
Molecular Genetics and Metabolism. 138:107330
Autor:
Dean Suhr
Publikováno v:
Molecular Genetics and Metabolism. 135:S117
Publikováno v:
Molecular Genetics and Metabolism. 132:S104-S105
Publikováno v:
Molecular Genetics and Metabolism. 129:S149-S150
Autor:
Dean Suhr
Publikováno v:
Molecular Genetics and Metabolism. 129:S149
Autor:
Joshua L. Bonkowsky, Dean Suhr, Adeline Vanderver, Keith Van Haren, Guy Helman, Marc C. Patterson, Geneviève Bernard, Jacque Waggoner, Don Hobson, Amy Pizzino, Jennifer L. Murphy
Publikováno v:
Molecular Genetics and Metabolism. 114:516-526
Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide sp
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
Autor:
Joshua L. Bonkowsky, Ryan Maddock, Miriam Bloom, Florian Eichler, Mary Karpinski, Anil Darbari, Sarah H. Evans, Donna DiVito, Maria L. Escolar, Adeline Vanderver, Jamie L. Fraser, Nicole I. Wolf, Geneviève Bernard, William B. Rizzo, Edna E. Mancilla, Deborah L. Renaud, Kiley Morgart, Christopher Joseph, Amy Pizzino, Ayelet Zerem, Leslie Hollowell, Keith Van Haren, Stephanie Keller, Ali Fatemi, Hernan Amartino, Jana Mertz, Nicole Jaffe, Dean Suhr, Laura Ball, Jay R. Shapiro, Omar Sherbini, Laura Adang, Erin Prange, Thomas J. Langan, Jacque Waggoner, Davide Tonduti, Teryn Suhr, Bruce McClary, Richard J. Leventer, Amy Waldman, Sumit Parikh
Publikováno v:
Mol Genet Metab
Adang, L A, Sherbini, O, Ball, L, Bloom, M, Darbari, A, Amartino, H, DiVito, D, Eichler, F, Escolar, M, Evans, S H, Fatemi, A, Fraser, J, Hollowell, L, Jaffe, N, Joseph, C, Karpinski, M, Keller, S, Maddock, R, Mancilla, E, McClary, B, Mertz, J, Morgart, K, Langan, T, Leventer, R, Parikh, S, Pizzino, A, Prange, E, Renaud, D L, Rizzo, W, Shapiro, J, Suhr, D, Suhr, T, Tonduti, D, Waggoner, J, Waldman, A, Wolf, N I, Zerem, A, Bonkowsky, J L, Bernard, G, van Haren, K & Vanderver, A 2017, ' Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies ', Molecular Genetics and Metabolism, vol. 122, no. 1-2 . https://doi.org/10.1016/j.ymgme.2017.08.006
Molecular Genetics and Metabolism, 122(1-2). Academic Press Inc.
Adang, L A, Sherbini, O, Ball, L, Bloom, M, Darbari, A, Amartino, H, DiVito, D, Eichler, F, Escolar, M, Evans, S H, Fatemi, A, Fraser, J, Hollowell, L, Jaffe, N, Joseph, C, Karpinski, M, Keller, S, Maddock, R, Mancilla, E, McClary, B, Mertz, J, Morgart, K, Langan, T, Leventer, R, Parikh, S, Pizzino, A, Prange, E, Renaud, D L, Rizzo, W, Shapiro, J, Suhr, D, Suhr, T, Tonduti, D, Waggoner, J, Waldman, A, Wolf, N I, Zerem, A, Bonkowsky, J L, Bernard, G, van Haren, K & Vanderver, A 2017, ' Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies ', Molecular Genetics and Metabolism, vol. 122, no. 1-2 . https://doi.org/10.1016/j.ymgme.2017.08.006
Molecular Genetics and Metabolism, 122(1-2). Academic Press Inc.
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespe
Autor:
Joshua L. Bonkowsky, S. Ali Fatemi, Geneviève Bernard, Maria L. Escolar, Marjo S. van der Knaap, Marc C. Patterson, Magdalena A. Petryniak, Albee Messing, Stephen A. Damiani, Dean Suhr, Guy Helman, Adeline Vanderver, Raphael Schiffmann, Nancy Braverman, David H. Rowitch, Asako Takanohashi, Jeff Leonard, Amy Pizzino, Lawrence Wrabetz, Steven A. Goldman, Keith Van Haren, Florian Eichler, Stephen A. Back
Publikováno v:
Molecular Genetics and Metabolism, 114(4), 527-536. Academic Press Inc.
Helman, G, van Haren, K, Bonkowsky, J L, Bernard, G, Pizzino, A, Braverman, N, Suhr, D, Patterson, M C, Fatemi, S A, Leonard, J, van der Knaap, M S, Back, S A, Damiani, S, Goldman, S A, Takanohashi, A, Petryniak, M, Rowitch, D, Messing, A, Wrabetz, L, Schiffmann, R, Eichler, F, Escolar, M L & Vanderver, A 2015, ' Disease specific therapies in leukodystrophies and leukoencephalopathies ', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 527-536 . https://doi.org/10.1016/j.ymgme.2015.01.014
Helman, G, van Haren, K, Bonkowsky, J L, Bernard, G, Pizzino, A, Braverman, N, Suhr, D, Patterson, M C, Fatemi, S A, Leonard, J, van der Knaap, M S, Back, S A, Damiani, S, Goldman, S A, Takanohashi, A, Petryniak, M, Rowitch, D, Messing, A, Wrabetz, L, Schiffmann, R, Eichler, F, Escolar, M L & Vanderver, A 2015, ' Disease specific therapies in leukodystrophies and leukoencephalopathies ', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 527-536 . https://doi.org/10.1016/j.ymgme.2015.01.014
The leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches. Recently, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f733b3bedc27e3d8b986e18a979044
https://research.vumc.nl/en/publications/24cd9494-76eb-43f4-8b72-95bd62ca3a8f
https://research.vumc.nl/en/publications/24cd9494-76eb-43f4-8b72-95bd62ca3a8f
Autor:
Dean Suhr
Publikováno v:
Molecular Genetics and Metabolism. 120:S128