Search Results - Richard O. Jones
- Showing 1 - 12 results of 12
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The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders by Kelsey B. Law, Dana M. Bronte-Tinkew, Erminia Di Pietro, Ann Snowden, Richard O. Jones, Ann B. Moser, John H. Brumell, Nancy Braverman, Peter K. Kim
Published 2017Artigo -
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ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism by Sacha Ferdinandusse, Kim D. Falkenberg, Janet Koster, P. A. W. Mooyer, Richard O. Jones, Carlo W.T. van Roermund, Amy Pizzino, Michael Schrader, Ronald J. A. Wanders, Adeline Vanderver, Hans R. Waterham
Published 2016Artigo -
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A botulinum toxin–derived targeted secretion inhibitor downregulates the GH/IGF1 axis by Emmanuel Somm, Nicolas Bonnet, Alberto Martínez, Philip M.H. Marks, Verity Cadd, Mark Elliott, Audrey Toulotte, Serge Ferrari, René Rizzoli, Petra S. Hüppi, Elaine A. Harper, Шломо Мелмед, Richard O. Jones, Michel L. Aubert
Published 2012Artigo -
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Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible by Christiane Theda, Katy Gibbons, Todd E. DeFor, Pamela Donohue, W. Christopher Golden, Antonie D. Kline, Fizza Gulamali-Majid, Susan R. Panny, Walter C. Hubbard, Richard O. Jones, Anita K. Liu, Ann B. Moser, Gerald V. Raymond
Published 2013Artigo -
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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers by Michael F. Wangler, Leroy Hubert, Taraka Donti, Meredith J. Ventura, Marcus J. Miller, Nancy Braverman, Kelly M. Gawron, Mousumi Bose, Ann B. Moser, Richard O. Jones, William B. Rizzo, V. Reid Sutton, Qin Sun, Adam D. Kennedy, Sarah H. Elsea
Published 2018Artigo -
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Combined dysfunctions of immune cells predict nosocomial infection in critically ill patients by Andrew Conway Morris, Niall Anderson, Mairi Brittan, Thomas S. Wilkinson, Daniel F. McAuley, Jean Antonelli, Corrienne McCulloch, Laura Barr, Kevin Dhaliwal, Richard O. Jones, Christopher Haslett, Alastair Hay, David Swann, Ian F. Laurenson, Donald J. Davidson, Adriano G. Rossi, Timothy Walsh, A. John Simpson
Published 2013Artigo -
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Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots by Thaís Armangué, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish‐Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith Van Haren, Camilo Toro, Alejandro Iglesias, Marjo S. van der Knaap, Raphaela Goldbach Mansky, Anne B. Moser, Richard O. Jones, Adeline Vanderver
Published 2017Artigo -
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms by Hyunglok Chung, Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo, Lita Duraine, Sina Sadeghzadeh, David Li‐Kroeger, Robert E. Schmidt, Alan Pestronk, Jill A. Rosenfeld, Lindsay C. Burrage, Mitchell J. Herndon, Shan Chen, Amelle Shillington, Marissa Vawter‐Lee, Robert J. Hopkin, Jackeline Rodriguez‐Smith, Michael Henrickson, Brendan Lee, Ann B. Moser, Richard O. Jones, Paul A. Watkins, Taekyeong Yoo, Soe Mar, Murim Choi, Robert C. Bucelli, Shinya Yamamoto, Hyun Kyoung Lee, Carlos E. Prada, Jong‐Hee Chae, Tiphanie P. Vogel, Hugo J. Bellen
Published 2020Artigo
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Medicine
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Biochemistry
Peroxisome
Internal medicine
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Peroxisomal disorder
Receptor
Adrenoleukodystrophy
Chemistry
Newborn screening
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Zellweger syndrome
Biogenesis
Cell biology
Enzyme
Genetics
Lysophosphatidylcholine
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Pathology
Phosphatidylcholine
Phospholipid
AAA proteins
ATPase
Alternative medicine
Amino acid
Anterior pituitary
Asymptomatic
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