Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Diane Armao"'
Autor:
Diane Armao, MD, Thomas W. Bouldin, MD, Terry S. Hartman, MPH, MS, Brian D. Thorp, MD, Valerie Jewells, DO
Publikováno v:
Radiology Case Reports, Vol 18, Iss 6, Pp 2078-2080 (2023)
Xanthogranuloma (XG) of the sellar region is a non-neoplastic inflammatory lesion characterized histologically by recent and remote hemorrhage, necrotic debris, fibrosis, chronic inflammation, and cholesterol clefts with associated foreign-body giant
Externí odkaz:
https://doaj.org/article/0e658512cfd043bf83b0efaefcc631b1
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused by loss-of-function mutations in the E3 ubiquitin ligase adaptor gigaxonin, which is encoded by the KLHL16 gene. Gigaxonin regulates the degradation of multiple intermediat
Externí odkaz:
https://doaj.org/article/f90ec5240d5b458e880dd9a2f7253ed3
Autor:
Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha, Steven J. Gray
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dys
Externí odkaz:
https://doaj.org/article/845fea1c9d2f488dba37dcde525c0bd7
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 9, Iss , Pp 160-171 (2018)
An NIH-sponsored phase I clinical trial is underway to test a potential treatment for giant axonal neuropathy (GAN) using viral-mediated GAN gene replacement (https://clinicaltrials.gov/ct2/show/NCT02362438). This trial marks the first instance of in
Externí odkaz:
https://doaj.org/article/dca15162736945cda152a854ea3b7a7e
Autor:
Diane Armao, Terry S Hartman, Christopher M Shea, Laurence Katz, Tracey Thurnes, J Keith Smith
Publikováno v:
Journal of Medical Education and Curricular Development, Vol 5 (2018)
“I am not young enough to know everything.” Oscar Wilde Background: There is insufficient knowledge among providers and patients/caregivers of ionizing radiation exposure from medical imaging examinations. This study used a brief, interactive edu
Externí odkaz:
https://doaj.org/article/e3592e4ebf9646ecbfdcf0037a49f0fa
Autor:
Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, Jasmine Robinson, Karina Kinghorn, J. Ashley Ezzell, Diana Bharucha-Goebel, Carsten Bonnemann, Jody E. Hooper, Puneet Opal, Thomas W. Bouldin, Diane Armao, Natasha Snider
Publikováno v:
bioRxiv
Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused byKLHL16mutations.KLHL16encodes gigaxonin, a regulator of intermediate filament (IF) protein turnover. Previous neuropathological studies and our own examination of postmor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf52fd77b50093f7b7bafc61fc187d1
https://europepmc.org/articles/PMC10054982/
https://europepmc.org/articles/PMC10054982/
Autor:
Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky
Publikováno v:
Brain
Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the peripheral nervous sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1db4ed000f65c170b9dd66f4963050
https://doi.org/10.1093/brain/awab179
https://doi.org/10.1093/brain/awab179
Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused by loss-of-function mutations in the E3 ubiquitin ligase adaptor gigaxonin, which is encoded by the GAN (KLHL16) gene. Gigaxonin regulates the degradation of multiple inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf0dfb249ce47e3dd770ae835412240d
https://doi.org/10.1101/2022.07.31.501244
https://doi.org/10.1101/2022.07.31.501244
Autor:
Terry Hartman, Laurence M. Katz, Jenna Koschnitzky, Carolyn Quinsey, Richard K. Yang, J. Keith Smith, Christopher M. Shea, Diane Armao
Publikováno v:
Child's Nervous System. 37:491-497
Surgically treated hydrocephalus patients are frequently imaged with head computed tomography (CT), and risk/benefit communication with families is inconsistent and unknown. We aimed to educate patients and caregivers about radiation safety in CT and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d815f4429580c5fa38ffa77e347fdf0
https://doi.org/10.1007/s00381-020-04822-0
https://doi.org/10.1007/s00381-020-04822-0
Background: Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). Validation of therapeutic efficacy and viral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d7b02ab96857b280a365f173983e04a