Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Nicholas, Balanda"'
1
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Autor: Sarthak Gupta, Amanda K. Ombrello, Emily Rominger, Megan Trick, Karyl S. Barron, Ryan S. Laird, Sinisa Savic, Shuichiro Nakabo, Daniela Ospina Cardona, Ivona Aksentijevich, Carmelo Carmona-Rivera, Gustaf Wigerblad, Mariana J. Kaplan, Emma M. Groarke, Laura W. Dillon, Chyi-Chia Richard Lee, Kalpana Manthiram, Kristina V. Wells, Nicholas Balanda, Zhijie Wu, Helen J. Lachmann, Daniel L. Kastner, Fernanda Gutierrez-Rodrigues, Achim Werner, Michele Nehrebecky, Lisha Xu, Alina Dulau-Florea, Wanxia L. Tsai, Bhavisha A Patel, Stefania Dell'Orso, Weixin Wang, Anthony J. Asmar, Danica Novacic, Katherine R. Calvo, David B. Beck, Robert A. Colbert, Massimo Gadina, William A. Gahl, Wendy Goodspeed, Natalie Deuitch, Dorota Rowczenio, Peter C. Grayson, Daron L. Ross, Sofia Rosenzweig, Anne Jones, Christopher S. Hourigan, James C. Mullikin, Stephen R. Brooks, Jason C. Collins, Wuhong Pei, May Christine V. Malicdan, Neal S. Young, Shawn M. Burgess, Keith A. Sikora, Mones Abu-Asab, Kyle Retterer, Patrycja Hoffmann, Hirotsugu Oda, Marcela A. Ferrada, Zuoming Deng, Benjamin D. Solomon, Jae Jin Chae
Publikováno v: New England Journal of Medicine. 383:2628-2638
Background Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may...
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99ad8cf39fc35fb40359e43ad0eff90c
https://doi.org/10.1056/nejmoa2026834
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3
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
Autor: Camilo Toro, Yan Huang, Brandon R. Barton, Thomas Johnstone, Jennifer Wang, May Christine V. Malicdan, William A. Gahl, Rena A. Godfrey, Daron L. Ross, Catherine Groden, Nicholas Balanda
Publikováno v: Mol Genet Metab
Leigh syndrome is a genetically heterogeneous disorder resulting from deficient oxidative energy biogenesis. The syndrome is characterized by subacute episodic decompensations, transiently elevated lactate, and necrotizing brain lesions most often in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9989657585e686bcc2733258bdf73b80
https://doi.org/10.1016/j.ymgme.2020.09.008
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4
VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis
Autor: Elena Galli, Luigi Boiardi, Peter C. Grayson, Nicholas Balanda, Chiara Marvisi, Nicolò Pipitone, David B. Beck, Orsola Bonanno, Carlo Salvarani, Enrico Farnetti, Francesco Muratore, Davide Nicoli, Piera Zaldini, Paola Castrignanò, Rosina Longo
Publikováno v: Arthritisrheumatology (Hoboken, N.J.). 74(4)
To identify patients with VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) from a single-center cohort of Italian patients with vasculitis, using a clinically oriented phenotype-first approach.We retrospectively revi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52deb47e2fc28c8e5e572e22af4e8994
https://pubmed.ncbi.nlm.nih.gov/34611997
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6
Somatic Mutations in
Autor: David B, Beck, Marcela A, Ferrada, Keith A, Sikora, Amanda K, Ombrello, Jason C, Collins, Wuhong, Pei, Nicholas, Balanda, Daron L, Ross, Daniela, Ospina Cardona, Zhijie, Wu, Bhavisha, Patel, Kalpana, Manthiram, Emma M, Groarke, Fernanda, Gutierrez-Rodrigues, Patrycja, Hoffmann, Sofia, Rosenzweig, Shuichiro, Nakabo, Laura W, Dillon, Christopher S, Hourigan, Wanxia L, Tsai, Sarthak, Gupta, Carmelo, Carmona-Rivera, Anthony J, Asmar, Lisha, Xu, Hirotsugu, Oda, Wendy, Goodspeed, Karyl S, Barron, Michele, Nehrebecky, Anne, Jones, Ryan S, Laird, Natalie, Deuitch, Dorota, Rowczenio, Emily, Rominger, Kristina V, Wells, Chyi-Chia R, Lee, Weixin, Wang, Megan, Trick, James, Mullikin, Gustaf, Wigerblad, Stephen, Brooks, Stefania, Dell'Orso, Zuoming, Deng, Jae J, Chae, Alina, Dulau-Florea, May C V, Malicdan, Danica, Novacic, Robert A, Colbert, Mariana J, Kaplan, Massimo, Gadina, Sinisa, Savic, Helen J, Lachmann, Mones, Abu-Asab, Benjamin D, Solomon, Kyle, Retterer, William A, Gahl, Shawn M, Burgess, Ivona, Aksentijevich, Neal S, Young, Katherine R, Calvo, Achim, Werner, Daniel L, Kastner, Peter C, Grayson
Publikováno v: Arthritis Rheumatol
Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8619cd7f680f820c748afb4ee52d1640
https://pubmed.ncbi.nlm.nih.gov/34463053
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7
A Comprehensive, Multidisciplinary, Precision Medicine Approach to Discover Effective Therapy for an Undiagnosed, Progressive, Fibro-inflammatory Disease
Autor: Nicholas Balanda, Carter Van Waes, William A. Gahl, Nicholas S. Ten, Bernadette R. Gochuico, Paul Zumbo, Shira G. Ziegler, May Christine V. Malicdan, Christopher E. Mason, Colleen A. Evans
Publikováno v: Transl Res
Precision medicine has generated diagnoses for many patients with challenging undiagnosed disorders. Some individuals remain without a diagnosis despite comprehensive testing, and this impedes their treatment. This report addresses the role of person
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f56051e9be8f7247ebe12fe860f4576
https://europepmc.org/articles/PMC6939610/
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