Zobrazeno 1 - 10
of 1 525
pro vyhledávání: '"Myotonin-Protein Kinase"'
Autor:
Raaijmakers RHL; Donders lnstitute for Brain Cognition and Behaviour, Department of Human Genetics, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands.; Donders lnstitute for Brain Cognition and Behaviour, Department of Neurology, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands.; Department of Medical BioSciences, Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, 6500 HB, The Netherlands., Ausems CRM; Donders lnstitute for Brain Cognition and Behaviour, Department of Human Genetics, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands.; Donders lnstitute for Brain Cognition and Behaviour, Department of Neurology, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands.; Department of Medical BioSciences, Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, 6500 HB, The Netherlands., Willemse M; Department of Medical BioSciences, Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, 6500 HB, The Netherlands., Cumming SA; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., van Engelen BGM; Donders lnstitute for Brain Cognition and Behaviour, Department of Neurology, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK., van Bokhoven H; Donders lnstitute for Brain Cognition and Behaviour, Department of Human Genetics, Radboud university medical center, Nijmegen, 6500 HB, The Netherlands. hans.vanbokhoven@radboudumc.nl., Wansink DG; Department of Medical BioSciences, Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, 6500 HB, The Netherlands. rick.wansink@radboudumc.nl.
Publikováno v:
Stem cell research & therapy [Stem Cell Res Ther] 2024 Sep 15; Vol. 15 (1), pp. 302. Date of Electronic Publication: 2024 Sep 15.
Autor:
Cerro-Herreros E; Human Translational Genomics Group. University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Burjassot, Valencia, Spain.; INCLIVA Biomedical Research Institute, Avenue Menéndez Pelayo 4 acc, 46010 Valencia, Spain.; ARTHEx Biotech, Parque Científico de la Universidad de Valencia. Calle del Catedrático Agustín Escardino Benlloch, 9, 46980 Paterna, Valencia, Spain., Núñez-Manchón J; Group of REsearch Neuromuscular of BAdalona (GRENBA), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain., Naldaiz-Gastesi N; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, 20014 Donostia/San Sebastián, Spain.; CIBERNED, Carlos III Institute, Spanish Ministry of Science and Innovation, Madrid, Spain., Carrascosa-Sàez M; ARTHEx Biotech, Parque Científico de la Universidad de Valencia. Calle del Catedrático Agustín Escardino Benlloch, 9, 46980 Paterna, Valencia, Spain., García-Rey A; Human Translational Genomics Group. University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Burjassot, Valencia, Spain.; INCLIVA Biomedical Research Institute, Avenue Menéndez Pelayo 4 acc, 46010 Valencia, Spain., Losilla DP; ARTHEx Biotech, Parque Científico de la Universidad de Valencia. Calle del Catedrático Agustín Escardino Benlloch, 9, 46980 Paterna, Valencia, Spain., González-Martínez I; Human Translational Genomics Group. University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Burjassot, Valencia, Spain.; INCLIVA Biomedical Research Institute, Avenue Menéndez Pelayo 4 acc, 46010 Valencia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), CB23/07/00005, Carlos III Health Institute, 28029 Madrid, Spain., Espinosa-Espinosa J; Human Translational Genomics Group. University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Burjassot, Valencia, Spain.; INCLIVA Biomedical Research Institute, Avenue Menéndez Pelayo 4 acc, 46010 Valencia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), CB23/07/00005, Carlos III Health Institute, 28029 Madrid, Spain.; Experimental and Applied Biomedicine Research Group, Health Sciences Faculty, Universidad Particular Internacional SEK (UISEK), Quito 170302, Ecuador., Moreno K; ARTHEx Biotech, Parque Científico de la Universidad de Valencia. Calle del Catedrático Agustín Escardino Benlloch, 9, 46980 Paterna, Valencia, Spain., Poyatos-García J; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, Madrid, Spain., Vilchez JJ; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, Madrid, Spain.; Neuromuscular Referral Center, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Universitary and Polytechnic La Fe Hospital, Valencia, Spain., de Munain AL; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, 20014 Donostia/San Sebastián, Spain.; CIBERNED, Carlos III Institute, Spanish Ministry of Science and Innovation, Madrid, Spain.; Department of Neurology, Donostialdea Integrated Health Organization, Osakidetza Basque Health Service, 20014 Donostia/San Sebastián, Spain.; Department of Neurosciences, Faculty of Medicine and Nursery, University of the Basque Country UPV-EHU, 20014 Donostia/San Sebastián, Spain., Suelves M; Group of REsearch Neuromuscular of BAdalona (GRENBA), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain., Nogales-Gadea G; Group of REsearch Neuromuscular of BAdalona (GRENBA), Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol (IGTP), Campus Can Ruti, Universitat Autònoma de Barcelona, 08916 Badalona, Spain., Llamusí B; ARTHEx Biotech, Parque Científico de la Universidad de Valencia. Calle del Catedrático Agustín Escardino Benlloch, 9, 46980 Paterna, Valencia, Spain., Artero R; Human Translational Genomics Group. University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Burjassot, Valencia, Spain.; INCLIVA Biomedical Research Institute, Avenue Menéndez Pelayo 4 acc, 46010 Valencia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), CB23/07/00005, Carlos III Health Institute, 28029 Madrid, Spain.
Publikováno v:
Science advances [Sci Adv] 2024 Oct 11; Vol. 10 (41), pp. eadn6525. Date of Electronic Publication: 2024 Oct 09.
Autor:
Chen C; Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. kongxd@263.net., Zhao X, Meng J, Kong X
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Oct 10; Vol. 41 (10), pp. 1182-1186.
Autor:
Damon J; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA., Chase C; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA., Higashimoto T; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Pediatrics, Division of Genetics, Genomics, and Metabolism, University of Michigan, Ann Arbor, Michigan, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63650. Date of Electronic Publication: 2024 May 06.
Autor:
Seifert BA; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Reddi HV; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Kang BE; Department of Pathology and Pediatrics, University of Michigan Medical School, Ann Arbor, MI; Vanderbilt University Medical Center, Nashville, TN., Bean LJH; Revvity Omics, Pittsburgh, PA., Shealy A; Cleveland Clinic Center for Personalized Genetic Healthcare, Cleveland, OH., Rose NC; Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Aug; Vol. 26 (8), pp. 101145. Date of Electronic Publication: 2024 Jun 05.
Autor:
Louis JM; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Frias JA; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Schroader JH; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Jones LA; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Davey EE; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Lennon CD; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Chacko J; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Cleary JD; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Berglund JA; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States., Reddy K; The RNA Institute, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.; Department of Biological Sciences, University at Albany, State University of New York, 1400 Washington Avenue, Albany, NY 12222, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Nov 05; Vol. 33 (21), pp. 1873-1886.
Autor:
Dewald Z; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Adesanya O; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Bae H; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Gupta A; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Derham JM; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Chembazhi UV; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA., Kalsotra A; Department of Biochemistry, University of Illinois, Urbana-Champaign, Urbana, IL, USA. kalsotra@illinois.edu.; Cancer Center@Illinois, University of Illinois, Urbana-Champaign, Urbana, IL, USA. kalsotra@illinois.edu.; Carl R. Woese Institute for Genomic Biology, University of Illinois, Urbana-Champaign, Urbana, IL, USA. kalsotra@illinois.edu.; Division of Nutritional Sciences, University of Illinois, Urbana-Champaign, Urbana, IL, USA. kalsotra@illinois.edu.; Chan Zuckerburg Biohub, Chicago, IL, USA. kalsotra@illinois.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Oct 21; Vol. 15 (1), pp. 9062. Date of Electronic Publication: 2024 Oct 21.
Autor:
Nitschke L; Department of Pathology & Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States., Hu RC; Department of Pathology & Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.; Department of Molecular Physiology & Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States., Miller AN; Department of Pathology & Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States., Cooper TA; Department of Pathology & Immunology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.; Department of Molecular Physiology & Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.; Department of Molecular & Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Oct 07; Vol. 33 (20), pp. 1789-1799.
Autor:
El-Wahsh S; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; South Western Sydney Clinical School, University of New South Wales, Sydney, New South Wales, Australia., Morris K; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Limaye S; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Immunology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Riminton S; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Immunology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Corbett A; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Triplett JD; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
Publikováno v:
Muscle & nerve [Muscle Nerve] 2024 Nov; Vol. 70 (5), pp. 1034-1039. Date of Electronic Publication: 2024 Sep 12.
Autor:
Hallgrímsdóttir EG; School of Medicine, European University Cyprus, Nicosia, Cyprus.; Department of Medicine, Aarhus University, Aarhus, Denmark.; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland., Svansson H; School of Medicine, European University Cyprus, Nicosia, Cyprus.; Department of Medicine, Aarhus University, Aarhus, Denmark.; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland., Stefánsdóttir VF; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland., Sveinsson ÓÁ; Department of Neurology, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland., Ólafsdóttir H; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland., Briem E; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland., Sveinbjörnsdóttir S; MSE Trust, Basildon University Hospital, Queen Mary University of Medicine and Dentistry, University of London, London, UK., Jónsson JJ; Department of Genetics and Molecular Medicine, Landspítali-National University Hospital of Iceland, Reykjavík, Iceland.; Faculty of Medicine, University of Iceland, Reykjavík, Iceland.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Oct; Vol. 12 (10), pp. e70013.