Resultados de procura - Austin Larson

Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature por Kagan Ege Karakus, Varun Suryadevara, Austin Larson, Prathosh Gangadhar, Viral N Shah

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P024: Clinical utility in hospital-wide use of GDF15 as a biomarker for mitochondrial DNA encoded primary mitochondrial disorders por Andrea Cortes Fernandez, Jane Estrella, Devin Oglesbee, Austin Larson, Johan Van Hove

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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting por Lauren Thompson, Austin Larson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina

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P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq por Jian Zhao, Nicola Longo, Robert Lewis, Thomas Nicholas, Steven Boyden, Ashley Andrews, Austin Larson, Pinar Bayrak-Toydemir, Lorenzo Botto, Rong Mao

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Signs, symptoms, and health-related quality of life in MELAS: measuring what’s important from the patient and clinician perspectives por Paolo Medrano, Benjamin Banderas, Marisa Brimmer, Lily Settel, Sari Berger, Alan Shields, Amy Goldstein, Amel Karaa, Austin Larson, Sumit Parikh, Fernando Scaglia, Karra Danyelle Harrington, Chris James Edgar, Pamela Ventola, Matthew Webster, Jennifer Chickering, Chad Gwaltney, Phebe Wilson, Chad Glasser

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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges por Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

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P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study* por Andrea DeBarber, Yaz Kisanuki, Paulo Nobrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Saute

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A complement C4–derived glycopeptide is a biomarker for PMM2-CDG por Kishore Garapati, Rohit Budhraja, Mayank Saraswat, Jinyong Kim, Neha Joshi, Gunveen S. Sachdeva, Anu Jain, Anna N. Ligezka, Silvia Radenkovic, Madan Gopal Ramarajan, Savita Udainiya, Kimiyo Raymond, Miao He, Christina Lam, Austin Larson, Andrew C. Edmondson, Kyriakie Sarafoglou, Nicholas B. Larson, Hudson H. Freeze, Matthew J. Schultz, Tamas Kozicz, Eva Morava, Akhilesh Pandey

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. por Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

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Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy por Francesca Bertino, Diletta Isabella Zanin Venturini, Eleonora Grasso, Joanna Kopecka, Chiara Salio, Barbara Gnutti, Ram Manohar Basnet, Stefania Bellini, Luca Mignani, Boxun Zhao, Felix Kleefeld, Andreas Hentschel, Francesca Magnani, Veronica Fiorito, Raluca Elena Abalai, Livia Metani, Anna Lucia Allocco, Sara Petrillo, Francesco De Giorgio, Giorgia Ammirata, Ettore Salsano, Davide Pareyson, Maja di Rocco, Angela Abicht, Emily McCourt, Rita Horvath, Heike Kölbel, Austin Larson, Andreas Roos, Timothy W. Yu, Dario Finazzi, Chiara Riganti, Emanuela Tolosano, Deborah Chiabrando

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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder por Bobby G. Ng, Erik A. Eklund, Jill A. Rosenfeld, Abdallah F. Elias, Aya Abu-El-Haija, Celine Bris, Magalie Barth, Jong-Hee Chae, Murim Choi, Holly A. Dubbs, Carl Fratter, Nicola Foulds, Candace Gamble, Ralitza H. Gavrilova, Jaclyn Haven, Trevor L. Hoffman, Jill V. Hunter, Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C. Magness, Debra M. Bootin, Eric D. Marsh, Victoria Nesbitt, Matthew T. Pastore, Joanna Poulton, Shamima Rahman, Fernando Scaglia, Chaya Murali, Jennifer Posey, Joshua Rotenberg, Betsy Schmalz, Deepali N. Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V. Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee, Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani, David Chitayat, Wendy K. Chung, Hudson H. Freeze, Volkan Okur

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