Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1 -Related Myopathy.

Autor: Janßen S; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany., Erbe LS; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Kneifel M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Lubieniecki KP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Lubieniecka JM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Gerding WM; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Casadei N; Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany.; NGS Competence Center Tübingen, 72076 Tübingen, Germany., Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Heyer C; Institute for Pediatric Radiology, Katholisches Klinikum Bochum, Ruhr-University Bochum, 44791 Bochum, Germany., Lücke T; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany., Nguyen HHP; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany., Köhler C; Department of Neuropediatrics, University Children's Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.; Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 09; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 09.

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Impaired Renal Allograft Function is Associated with Increased Arterial Stiffness in Renal Transplant Recipients

Autor: Kneifel, M., Scholze, A., Burkert, A., Offermann, G., Rothermund, L., Zidek, W., Tepel, M. ^{*, †}

Publikováno v: In American Journal of Transplantation July 2006 6(7):1624-1630

Verminderte Gefäßelastizität bei Patienten mit chronischer Transplantatnephropathie

Autor: Kneifel, M, Scholze, A, Burkert, A, Offermann, G, Rothermund, L, Zidek, W

Publikováno v: Hypertonie 2005; 29. Wissenschaftlicher Kongress der Deutschen Hochdruckliga; 20051123-20051125; Berlin; DOC05hochP7 /20060808/

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1175::8666d4ab75ed4ede27fd0c9f6d97eda1
http://www.egms.de/en/meetings/hoch2005/05hoch007.shtml

Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.

Autor: Hutson MR; Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA., Keyte AL; Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA.; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA., Hernández-Morales M; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, CA 94720, USA.; Helen Wills Neuroscience Institute, University of California, Berkeley, CA 94720, USA., Gibbs E; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA., Kupchinsky ZA; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA., Argyridis I; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA., Erwin KN; Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA., Pegram K; Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA., Kneifel M; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA., Rosenberg PB; Department of Medicine, Duke University School of Medicine, Durham, NC 27710, USA., Matak P; Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC 27710, USA., Xie L; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA., Grandl J; Department of Neurobiology, Duke University Medical Center, Durham, NC 27710, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27710, USA., Liu C; Brain Imaging and Analysis Center, Duke University School of Medicine, Durham, NC 27710, USA. eric.benner@duke.edu chunlei.liu@berkeley.edu.; Department of Radiology, Duke University School of Medicine, Durham, NC 27710, USA.; Department of Electrical Engineering and Computer Sciences, University of California, Berkeley, CA 94720, USA.; Helen Wills Neuroscience Institute, University of California, Berkeley, CA 94720, USA., Benner EJ; Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Jean and George Brumley, Jr. Neonatal-Perinatal Institute, Durham, NC 27710, USA. eric.benner@duke.edu chunlei.liu@berkeley.edu.

Publikováno v: Science signaling [Sci Signal] 2017 Oct 10; Vol. 10 (500). Date of Electronic Publication: 2017 Oct 10.