Zobrazeno 1 - 10
of 161
pro vyhledávání: '"Joshua L Bonkowsky"'
Autor:
Matthew D Keefe, Haille E Soderholm, Hung-Yu Shih, Tamara J Stevenson, Kathryn A Glaittli, D Miranda Bowles, Erika Scholl, Samuel Colby, Samer Merchant, Edward W Hsu, Joshua L Bonkowsky
Publikováno v:
eLife, Vol 9 (2020)
Vanishing white matter disease (VWM) is a severe leukodystrophy of the central nervous system caused by mutations in subunits of the eukaryotic initiation factor 2B complex (eIF2B). Current models only partially recapitulate key disease features, and
Externí odkaz:
https://doaj.org/article/0ee75c412d8f4dd58a470302d1887a1f
Autor:
Christopher J Lambert, Briana C Freshner, Arlen Chung, Tamara J Stevenson, D Miranda Bowles, Raheel Samuel, Bruce K Gale, Joshua L Bonkowsky
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193180 (2018)
Zebrafish are a valuable model organism in biomedical research. Their rapid development, ability to model human diseases, utility for testing genetic variants identified from next-generation sequencing, amenity to CRISPR mutagenesis, and potential fo
Externí odkaz:
https://doaj.org/article/9bc7aaa17b8f4af788704363c8d73674
Autor:
Joshua L. Bonkowsky, Bridget Healey, Naomi C. Sacks, Ronaé McLin, Philip L. Cyr, Eileen K. Sawyer, Christopher D. Stephen, Florian Eichler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We cond
Externí odkaz:
https://doaj.org/article/73291e113afa4a17b2063bcb446e2516
Autor:
Shanna M. Swartwood, Ana Morales, Kathryn E. Hatchell, Chad Moretz, Dianalee McKnight, Laurie Demmer, Sarah Chagnon, Swaroop Aradhya, Edward D. Esplin, Joshua L. Bonkowsky
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 439-444 (2024)
Abstract The identification of numerous genetically based epilepsies has resulted in the widespread use of genetic testing to inform epilepsy etiology. Our study aims to investigate whether a difference exists in the diagnostic evaluation and healthc
Externí odkaz:
https://doaj.org/article/0eccc6c943f44a18b21ac316ae253fba
Autor:
Jay G Berry, Annapurna Poduri, Joshua L Bonkowsky, Jing Zhou, Dionne A Graham, Chelsea Welch, Heather Putney, Rajendu Srivastava
Publikováno v:
PLoS Medicine, Vol 9, Iss 1, p e1001158 (2012)
Care advances in the United States (US) have led to improved survival of children with neurological impairment (NI). Children with NI may account for an increasing proportion of hospital resources. However, this assumption has not been tested at a na
Externí odkaz:
https://doaj.org/article/466d46e9ed874340ae44aa30155e75e4
Autor:
Tamara J Stevenson, Tony Trinh, Cory Kogelschatz, Esther Fujimoto, Mark E Lush, Tatjana Piotrowski, Cameron J Brimley, Joshua L Bonkowsky
Publikováno v:
PLoS Genetics, Vol 8, Iss 4, p e1002638 (2012)
The mechanisms of hypoxic injury to the developing human brain are poorly understood, despite being a major cause of chronic neurodevelopmental impairments. Recent work in the invertebrate Caenorhabditis elegans has shown that hypoxia causes discrete
Externí odkaz:
https://doaj.org/article/70ba011ee82440a293ebf63290830a01
Autor:
Lingyan Xing, Kazuyuki Hoshijima, David J Grunwald, Esther Fujimoto, Tyler S Quist, Jacob Sneddon, Chi-Bin Chien, Tamara J Stevenson, Joshua L Bonkowsky
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e43968 (2012)
foxP2, a forkhead-domain transcription factor, is critical for speech and language development in humans, but its role in the establishment of CNS connectivity is unclear. While in vitro studies have identified axon guidance molecules as targets of f
Externí odkaz:
https://doaj.org/article/964cfcf30ec847a9a096a24311793c0b
Autor:
Monika J. Baker, Joshua L. Bonkowsky
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 3, Pp 180-185 (2023)
Abstract Objective Querying large data sets in the United States is challenging due to limitations of International Classification of Diseases 10th edition Clinical Modification (ICD‐10‐CM) codes. ICD codes were developed for tracking mortality a
Externí odkaz:
https://doaj.org/article/8cb8cda895dd48f1a9a57bbb7060b319
Autor:
Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. van der Knaap
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background The leukodystrophy “Vanishing White Matter” (VWM) is an orphan disease with neurological decline and high mortality. Currently, VWM has no approved treatments, but advances in understanding pathophysiology have led to identifi
Externí odkaz:
https://doaj.org/article/8f4af726592c4d9fb60b72f567204c44
Autor:
Keith P. vanHaren, Jacob Wilkes, Ann B. Moser, Gerald V. Raymond, Troy Richardson, Patrick Aubourg, Timothy W. Collins, Ellen M. Mowry, Joshua L. Bonkowsky
Publikováno v:
Annals of the Child Neurology Society, Vol 1, Iss 2, Pp 155-161 (2023)
Abstract Objectives Approximately 40% of boys with X‐linked adrenoleukodystrophy (ALD) develop inflammatory demyelinating brain lesions (cerebral ALD, cALD) and are at risk for death or severe disability. Risk factors for cALD are poorly understood
Externí odkaz:
https://doaj.org/article/7044782bab8a4d958fd97cdd5bf29889