Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Laura Poskitt"'
Autor:
D. Holmes Morton, Jennifer Hailey, Christine Hendrickson, Erik G. Puffenberger, Katie B. Williams, Millie Young, Donna L. Robinson, Kevin A. Strauss, Freeman Miller, Karlla W. Brigatti, Laura Poskitt, Stephanie Chopko, Vincent J Carson, Keturah Beiler, Lauren E. Bowser, Cora M. Taylor, Barbara Haas-Givler
Publikováno v:
Molecular genetics and metabolism. 131(3)
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in80% of affected children before two years of age. We analyzed clinical,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f94860df6ebe7d939bb5bc4e9058ff1
https://pubmed.ncbi.nlm.nih.gov/33069577
https://pubmed.ncbi.nlm.nih.gov/33069577
Autor:
Vincenzo Salpietro, Marcello Scala, Marta Biderman Waberski, Henry Houlden, Valentina Stanley, Queen Square Genomics, Atiye Eslahi, Richard E. Person, Joseph G. Gleeson, Saima Riazuddin, Katie B Williams, Erik G. Puffenberger, Heba Hosny, Dana Marafi, Zineb Ammous, Reza Maroofian, Julie S. Cohen, Jill A. Rosenfeld, Maha S. Zaki, Sheikh Riazuddin, Anne M. Comi, Mohsin Shahzad, Majid Mojarrad, Fan Xia, Hasnaa M. Elbendary, Laura Poskitt, Muhammad A. Usmani, Karlla W. Brigatti
Publikováno v:
Brain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6934daef382d7126461c73f3e3833861
http://hdl.handle.net/11567/1027121
http://hdl.handle.net/11567/1027121
Autor:
Karlla W. Brigatti, John D. Overton, Mark Yoder, Anthony Antonellis, Vincent J Carson, Erick D Martinez, Lili Miles, Kadakkal Radhakrishnan, Vinay Kandula, Aris Baras, Claudia Gonzaga-Jauregui, Laurie B. Griffin, Jeffrey G. Reid, Robert N. Jinks, Erik G. Puffenberger, Katie B. Williams, Katryn N. Furuya, Olivia Wenger, Kevin A. Strauss, Matthew M Demczko, Laura Poskitt, Michael D Fox
Publikováno v:
Human Molecular Genetics. 28:525-538
Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::767dc4e7363c70a5dac3fb19cb3fbc67
https://doi.org/10.1093/hmg/ddy344
https://doi.org/10.1093/hmg/ddy344