Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Laura, Adang"'
Autor:
Daphne H. Schoenmakers, Shanice Beerepoot, Sibren van den Berg, Laura Adang, Annette Bley, Jaap-Jan Boelens, Francesca Fumagalli, Wim G. Goettsch, Sabine Grønborg, Samuel Groeschel, Peter M. van Hasselt, Carla E. M. Hollak, Caroline Lindemans, Fanny Mochel, Peter G. M. Mol, Caroline Sevin, Ayelet Zerem, Ludger Schöls, Nicole I. Wolf
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare lysosomal disorder. Patients suffer from relentless neurological deterioration leading to premature death. Recently, new treatment modalities, including gene therapy and enzyme replacem
Externí odkaz:
https://doaj.org/article/8c393f5208e146328f0af2066de15352
Autor:
Ronan Lordan, Samantha Prior, Elizabeth Hennessy, Amruta Naik, Soumita Ghosh, Georgios K. Paschos, Carsten Skarke, Kayla Barekat, Taylor Hollingsworth, Sydney Juska, Liudmila L. Mazaleuskaya, Sarah Teegarden, Abigail L. Glascock, Sean Anderson, Hu Meng, Soon-Yew Tang, Aalim Weljie, Lisa Bottalico, Emanuela Ricciotti, Perla Cherfane, Antonijo Mrcela, Gregory Grant, Kristen Poole, Natalie Mayer, Michael Waring, Laura Adang, Julie Becker, Susanne Fries, Garret A. FitzGerald, Tilo Grosser
Publikováno v:
Frontiers in Public Health, Vol 9 (2021)
During the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, providing safe in-person schooling has been a dynamic process balancing evolving community disease burden, scientific information, and local regulatory requirements wit
Externí odkaz:
https://doaj.org/article/298977766e054b9b829eacc8bb551a03
Publikováno v:
Neurobiology of Disease, Vol 146, Iss , Pp 105087- (2020)
Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neuro
Externí odkaz:
https://doaj.org/article/7ae4d0d8f2044d848d8bcfb8b87d4c88
Autor:
Asako, Takanohashi, Mohamad-Gabriel, Alameh, Sarah, Woidill, Julia, Hacker, Benjamin, Davis, Guy, Helman, Francesco, Gavazzi, Laura, Adang, Russell, D'Aiello, Patrick, Winters, Devon, Cordova, Taibeen, Khandaker, Houping, Ni, Ying, Tam, Paulo, Lin, Drew, Weissman, Justine, Shults, Adeline, Vanderver
Publikováno v:
Molecular Genetics and Metabolism. 137:320-327
Aicardi Goutières Syndrome (AGS) is an autoinflammatory disorder resulting in sustained interferon activation through defects in nucleic acid modification and sensing pathways. Thus, mRNA-based vaccination used against SARS-CoV-2, raise disease-spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80f17fcf896f31f934ec03b5eaa65f0e
https://doi.org/10.1016/j.ymgme.2022.10.001
https://doi.org/10.1016/j.ymgme.2022.10.001
Autor:
Laura Adang
Publikováno v:
CONTINUUM: Lifelong Learning in Neurology. 28:1194-1216
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c27678a2805515003fe459847ef7208
https://doi.org/10.1212/con.0000000000001130
https://doi.org/10.1212/con.0000000000001130
Autor:
Adeline Vanderver, Russell D’Aiello, Asako Takanohashi, Francesco Gavazzi, Justine Shults, Sarah Woidill, Laura Adang
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::635def890e9a1c6e4c7b9565303da5c4
https://doi.org/10.1212/wnl.0000000000204240
https://doi.org/10.1212/wnl.0000000000204240
Autor:
Ingo Helbig, Laura Adang
Publikováno v:
Neurology. 100:S38-S39
Neuroimaging in a 6-year-old girl with an unknown neurodegenerative disorder showed atrophy and bilateral thalamic T2/fluid-attenuated inversion recovery hyperintense signal intensity (figure). A mitochondrial or metabolic condition was suspected. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a202f8e7697c8bedb83bb4a88a6ade6b
https://doi.org/10.1212/wnl.0000000000206922
https://doi.org/10.1212/wnl.0000000000206922
Autor:
Laura Adang, Francesco Gavazzi, Valentina De Giorgis, Micaela De Simone, Elisa Fazzi, Jessica Galli, Jamie Koh, Julia Kramer-Golinkoff, Simona Orcesi, Kyle Peer, Nicole Ulrick
Publikováno v:
Journal of Clinical and Translational Science, Vol 3, Pp 45-45 (2019)
OBJECTIVES/SPECIFIC AIMS: A mimic of congenital infections and a rare genetic cause of interferon overproduction, Aicardi Goutières Syndrome (AGS) results in significant neurologic disability. AGS is caused by pathogenic changes in the intracellular
Externí odkaz:
https://doaj.org/article/37f04d83e8a44add93c8d4df0bce6e5b
Autor:
Laura Adang, Akshilkumar Patel, Omar Sherbini, Julia Kramer-Golinkoff, Justine Shults, Adeline Vanderver
Publikováno v:
Journal of Clinical and Translational Science, Vol 3, Pp 45-45 (2019)
OBJECTIVES/SPECIFIC AIMS: Metachromatic leukodystrophy (MLD) is a rare, lysosomal storage disorder caused by decreased enzymatic activity of arylsulfatase A. This can be the result of mutations in the ASA gene, or in rare cases PSAP. Historically, ML
Externí odkaz:
https://doaj.org/article/305be6199378459dbc9804bceeaad904
Autor:
Adeline Vanderver, Asako Takanohashi, Nicole Ulrick, Elizabeth B. Rand, Sarah Woidill, Francesco Gavazzi, Joseph M. McMann, Laura Adang, Zachary Cross, Justine Shults
Publikováno v:
Neuropediatrics
Aicardi-Goutières syndrome (AGS) is a monogenic type-I interferonopathy that results in neurologic injury. The systemic impact of sustained interferon activation is less well characterized. Liver inflammation is known to be associated with the neona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d115181c8ad922cd687656bd0fbcfa
https://doi.org/10.1055/s-0040-1722673
https://doi.org/10.1055/s-0040-1722673