Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Rachel M Bailey"'
Publikováno v:
PLoS Biology, Vol 16, Iss 12, p e2006265 (2018)
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson disease. Genetics and neuropathology link Parkinson disease with the microtubule-binding protein tau, but the mechanism of action of LRRK2 mutations and
Externí odkaz:
https://doaj.org/article/335eb359752c4c3682dc9a812a997ae6
Autor:
Brina Snyder, Rachel M. Bailey
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 4, Pp 101345- (2024)
Externí odkaz:
https://doaj.org/article/0d84e8271fa64498bd569c878416ed02
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Externí odkaz:
https://doaj.org/article/99e23d6deecf4d4a969b4fc12d2ded22
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
Publikováno v:
Journal of Technology in Human Services. 40:47-57
This article presents results from an evaluation of learning outcomes in a social work skills class between online and in-person students. Students were compared on background and academic factors,...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86923cdefc0d6135f9b3c497c77166c8
https://doi.org/10.1080/15228835.2021.1997693
https://doi.org/10.1080/15228835.2021.1997693
Autor:
Kimberly Goodspeed, Rachel M. Bailey, Suyash Prasad, Chanchal Sadhu, Jessica A. Cardenas, Mary Holmay, Deborah A. Bilder, Berge A. Minassian
Publikováno v:
Frontiers in neurology. 13
Genetic epilepsies are a spectrum of disorders characterized by spontaneous and recurrent seizures that can arise from an array of inherited or de novo genetic variants and disrupt normal brain development or neuronal connectivity and function. Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ba172be25a3a5da15f8025ad3077a58
https://pubmed.ncbi.nlm.nih.gov/35847198
https://pubmed.ncbi.nlm.nih.gov/35847198
Autor:
Kimberly Goodspeed, Judy S. Liu, Kimberly L. Nye, Suyash Prasad, Chanchal Sadhu, Fatemeh Tavakkoli, Deborah A. Bilder, Berge A. Minassian, Rachel M. Bailey
Publikováno v:
Genes. 13:1655
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c902e3a794f7cfa5e39979a72bc884
https://doi.org/10.3390/genes13091655
https://doi.org/10.3390/genes13091655
Autor:
Robert W. Burgess, Maximiliano Presa, Hannah Wilpan, Cathleen M. Lutz, Crystal Davis, Laurent P. Bogdanik, Guy M. Lenk, Steven J. Gray, Randy Walls, Rachel M. Bailey, Jenn Cook, Tara Murphy
Publikováno v:
J Clin Invest
Charcot-Marie-Tooth disease type 4J (CMT4J) is caused by recessive, loss-of-function mutations in FIG4, encoding a phosphoinositol(3,5)P2-phosphatase. CMT4J patients have both neuron loss and demyelination in the peripheral nervous system, with vacuo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ad55ebe75eeae207c5f584536ff9d1
https://doi.org/10.1172/jci137159
https://doi.org/10.1172/jci137159
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
