Search Results - "Kornberg, J"

Duchenne muscular dystrophy by Yiu, Eppie M, Kornberg, Andrew J

“…Duchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness…”
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia by Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C

“…Disturbed mitochondrial fusion and fission have been linked to various neurodegenerative disorders. In siblings from two unrelated families who died soon after…”
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Acute flaccid myelitis in childhood: a retrospective cohort study by Andersen, E. W., Kornberg, A. J., Freeman, J. L., Leventer, R. J., Ryan, M. M.

“…Background and purpose Clusters of acute limb weakness in paediatric patients have been linked to outbreaks of non‐polio enteroviruses, termed acute flaccid…”
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Treating ischaemia‐reperfusion injury with prostaglandin E1 reduces the risk of early hepatocellular carcinoma recurrence following liver transplantation by Kornberg, A., Witt, U., Kornberg, J., Friess, H., Thrum, K.

“…Summary Background Surgical stress by hepatic ischaemia‐reperfusion (I/R) is supposed to promote intra‐ and extrahepatic tumour recurrence. Treatment with…”
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Correction: Targeted gene correction in the mdx mouse using short DNA fragments: towards application with bone marrow-derived cells for autologous remodeling of dystrophic muscle by Kapsa, R. M., Quigley, A. F., Vadolas, J., Steeper, K., Ioannou, P. A., Byrne, E., Kornberg, A. J.

“…A Correction to this paper has been published: https://doi.org/10.1038/s41434-020-00217-7…”
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Observations of body mass index in Duchenne muscular dystrophy: a longitudinal study by Davidson, Z E, Ryan, M M, Kornberg, A J, Sinclair, K, Cairns, A, Walker, K Z, Truby, H

“…Background/Objectives: Nutritional issues that are associated with Duchenne muscular dystrophy (DMD) remain poorly understood. The aim of this analysis was to…”
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Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial by Burns, Joshua, PhD, Ouvrier, Robert A, MD, Yiu, Eppie M, MBBS, Joseph, Pathma D, MPharm, Kornberg, Andrew J, MBBS, Fahey, Michael C, PhD, Ryan, Monique M, MMed

“…Summary Background Charcot–Marie–Tooth disease type 1A (CMT1A) is the most common inherited nerve disorder. CMT1A is characterised by peripheral nerve…”
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Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy by ESCOLAR, D. M, HACHE, L. P, PESTRONK, A, RYAN, M. M, MONASTERIO, E, DAY, J. W, ZIMMERMAN, A, ARRIETA, A, HENRICSON, E, MAYHEW, J, FLORENCE, J, HU, F, CLEMENS, P. R, CONNOLLY, A. M, CNAAN, A, MCDONALD, C. M, VISWANATHAN, V, KORNBERG, A. J, BERTORINI, T. E, NEVO, Y, LOTZE, T

“…To perform a double-blind, randomized study comparing efficacy and safety of daily and weekend prednisone in boys with Duchenne muscular dystrophy (DMD). A…”
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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion by Clarke, Nigel F, Waddell, Leigh B, Cooper, Sandra T, Perry, Margaret, Smith, Robert L.L, Kornberg, Andrew J, Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate, Guglieri, Michela, King, Mary D, Farrell, Michael A, Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N

“…The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch)…”
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Preoperative Prognostic Nutritional Index May Be a Strong Predictor of Hepatocellular Carcinoma Recurrence Following Liver Transplantation by Kornberg, Arno, Kaschny, Linda, Kornberg, Jennifer, Friess, Helmut

“…Purpose: Malnutrition is a major risk factor of immune dysfunction and poor outcome in cancer patients. The prognostic nutritional index (PNI), which is…”
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Patients with 18F-FDG Non-Avid HCC beyond Up-To-Seven Criteria Have an Excellent Prognosis after Liver Transplantation by Kornberg, A, Witt, U, Kornberg, J, Friess, H, Thrum, K, Müller, K

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Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania by Takeuchi, Fumi, Nakamura, Harumasa, Yonemoto, Naohiro, Komaki, Hirofumi, Rosales, Raymond L., Kornberg, Andrew J., Bretag, Allan H., Dejthevaporn, Charungthai, Goh, Khean Jin, Jong, Yuh-Jyh, Kim, Dae-Seong, Khadilkar, Satish V., Shen, Dingguo, Wong, Kum Thong, Chai, Josiah, Chan, Sophelia Hoi-Shan, Khan, Sara, Ohnmar, Ohnmar, Nishino, Ichizo, Takeda, Shin'ichi, Nonaka, Ikuya

“…Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have been only a few…”
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Acute disseminated encephalomyelitis: Updates on an inflammatory CNS syndrome by Pohl, Daniela, Alper, Gulay, Van Haren, Keith, Kornberg, Andrew J, Lucchinetti, Claudia F, Tenembaum, Silvia, Belman, Anita L

“…Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating CNS disorder with predilection to early childhood. ADEM is generally considered…”
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Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children by Howell, Katherine B., Tiedemann, Karin, Haeusler, Gabrielle, Mackay, Mark T., Kornberg, Andrew J., Freeman, Jeremy L., Harvey, A. Simon

“…Summary Human herpesvirus 6 (HHV6) is the major cause of posttransplant acute limbic encephalitis (PALE) in immunosuppressed patients following hematopoietic…”
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone by Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.

“…Objective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA…”
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Focal adhesion kinase and its potential involvement in tumor invasion and metastasis by Kornberg, Lori J.

“…Background Integrins are cell surface receptors which, in part, mediate the adhesion of cells to the extracelluar matrix. In addition to providing a molecular…”
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Treatment with PGE1-analog alprostadil reduces the risk of tumor recurrence in liver transplant patients with advanced HCC by Kornberg, A, Witt, U, Küpper, B, Friess, H, Kornberg, J, Thrum, K

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SEPN1: Associated with congenital fiber-type disproportion and insulin resistance by Clarke, Nigel F., Kidson, Warren, Quijano-Roy, Susana, Estournet, Brigitte, Ferreiro, Ana, Guicheney, Pascale, Manson, James I., Kornberg, Andrew J., Shield, Lloyd K., North, Kathryn N.

“…Objective Our first objective was to determine whether SEPN1 gene mutations are a cause of congenital fiber‐type disproportion (CFTD), a rare form of…”
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Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children by Hynson, J L, Kornberg, A J, Coleman, L T, Shield, L, Harvey, A S, Kean, M J

“…To identify the clinical and neuroradiologic features of acute disseminated encephalomyelitis (ADEM) in childhood. A retrospective review was conducted of the…”
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Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome by Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Benko, Willam S., Bergmann, Carsten, Bertini, Enrico, Blair, Edward M., Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jürgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D’Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Déry, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G.M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutières, Françoise, Green, Andrew J., Guët, Agnès, Hamel, Ben C.J., Hayward, Bruce E., Heiberg, Arvid, Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Leitch, Andrea, Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McWilliam, Robert, Melancon, Serge B., Moutard, Marie-Laure, Nischal, Ken K., Østergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rostasy, Kevin, Roubertie, Agathe, Schiffmann, Raphael, Scholl-Bürgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Spiegel, Ronen, Stephenson, John B.P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N.A., Van der Aa, Nathalie, Vanderver, Adeline, Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michel A.A., Zankl, Andreas, Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre, Crow, Yanick J.

“…Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus…”
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