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Wyszukujesz frazę ""Jennings, MJ"" wg kryterium: Autor

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    Wyświetlanie 1-13 z 13
    Tytuł:
    Rapid extraction-free detection of the R132H isocitrate dehydrogenase mutation in glioma using colorimetric peptide nucleic acid-loop mediated isothermal amplification (CPNA-LAMP).
    Autorzy:
    Choate KA; Department of Biology, Northern Michigan University, Marquette, Michigan, United States of America.; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.
    Raack EJ; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.; School of Clinical Sciences, Northern Michigan University, Marquette, Michigan, United States of America.
    Line VF; Department of Biology, Northern Michigan University, Marquette, Michigan, United States of America.; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.
    Jennings MJ; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.; School of Clinical Sciences, Northern Michigan University, Marquette, Michigan, United States of America.
    Belton RJ Jr; Department of Biology, Northern Michigan University, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.
    Winn RJ; Department of Biology, Northern Michigan University, Marquette, Michigan, United States of America.; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.
    Mann PB; Upper Michigan Brain Tumor Center, Marquette, Michigan, United States of America.; Northern Michigan University, Marquette, Michigan, United States of America.; School of Clinical Sciences, Northern Michigan University, Marquette, Michigan, United States of America.
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    Źródło:
    PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0291666. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Peptide Nucleic Acids*
    Glioma*/diagnosis
    Glioma*/genetics
    Humans ; Isocitrate Dehydrogenase/genetics ; Colorimetry ; Mutation
    SCR Protocol:
    LAMP assay
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
    Autorzy:
    Spaulding EL; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469, USA.
    Hines TJ; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Bais P; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Tadenev ALD; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Schneider R; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Jewett D; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Pattavina B; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Pratt SL; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.
    Morelli KH; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469, USA.
    Stum MG; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Hill DP; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Gobet C; School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland.
    Pipis M; MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
    Reilly MM; MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
    Jennings MJ; Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
    Horvath R; Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
    Bai Y; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
    Shy ME; Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
    Alvarez-Castelao B; Max Planck Institute for Brain Research, Frankfurt, Germany.
    Schuman EM; Max Planck Institute for Brain Research, Frankfurt, Germany.
    Bogdanik LP; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
    Storkebaum E; Department of Molecular Neurobiology, Donders Institute for Brain, Cognition and Behaviour and Faculty of Science, Radboud University, Nijmegen, Netherlands.
    Burgess RW; The Jackson Laboratory, Bar Harbor, ME 04609, USA.; Graduate School of Biomedical Science and Engineering, University of Maine, Orono, ME 04469, USA.; Neuroscience Program, Graduate School of Biomedical Sciences, Tufts University, Boston, MA 02111, USA.
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    Źródło:
    Science (New York, N.Y.) [Science] 2021 Sep 03; Vol. 373 (6559), pp. 1156-1161. Date of Electronic Publication: 2021 Sep 01.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Stress, Physiological*/drug effects
    Stress, Physiological*/genetics
    Stress, Physiological*/physiology
    Charcot-Marie-Tooth Disease/*metabolism
    Glycine-tRNA Ligase/*metabolism
    Protein Serine-Threonine Kinases/*metabolism
    Tyrosine-tRNA Ligase/*metabolism
    Activating Transcription Factor 4/genetics ; Activating Transcription Factor 4/metabolism ; Animals ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/physiopathology ; Disease Models, Animal ; Female ; Gene Deletion ; Genes, Dominant ; Glycine-tRNA Ligase/genetics ; Male ; Mice ; Mice, Mutant Strains ; Motor Neurons/physiology ; Protein Biosynthesis ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Protein Serine-Threonine Kinases/antagonists & inhibitors ; Protein Serine-Threonine Kinases/genetics ; Spinal Cord/physiopathology ; Transcriptome ; Tyrosine-tRNA Ligase/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
    Autorzy:
    Atalaia A; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France. .
    Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
    Corvo A; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Carmody L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
    Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Macaya A; Paediatric Neurology, Vall D'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
    Lochmuller A; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Fontaine B; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France.
    Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Reinhard C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Gómez-Andrés D; Paediatric Neurology, Vall D'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
    Desaphy JF; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
    Schon K; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.
    Jennings MJ; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
    Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Yaou RB; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France.
    Evangelista T; Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.; Sorbonne Université, AP-HP, INSERM, Centre de Référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France.
    Ratnaike T; Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
    Bros-Facer V; EURORDIS - Rare Diseases Europe, Paris, France.
    Gumus G; EURORDIS - Rare Diseases Europe, Paris, France.
    Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Chinnery P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
    Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Robinson P; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
    Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
    Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Bonne G; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, 75 651, Paris Cedex 13, France.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 22; Vol. 16 (1), pp. 145. Date of Electronic Publication: 2021 Mar 22.
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
    Autorzy:
    Atalaia A; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France. .
    Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
    Corvo A; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Carmody L; The Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA.
    Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Macaya A; Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
    Lochmuller A; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Fontaine B; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
    Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Reinhard C; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Gómez-Andrés D; Paediatric Neurology, Vall d'Hebron University Hospital and VHIR (Euro-NMD, ERN-RND), 08035, Barcelona, Spain.
    Desaphy JF; Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, Bari, Italy.
    Schon K; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Lohmann K; Institute of Neurogenetics, University of Lübeck, 23538, Lübeck, Germany.
    Jennings MJ; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
    Riess O; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Yaou RB; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
    Evangelista T; Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU Pitié-Salpêtrière, Paris, France.; Sorbonne Université, AP-HP, INSERM, Centre de référence Des Maladies Neuromusculaires Nord/Est, Ile de France, Paris, France.
    Ratnaike T; Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, England.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
    Bros-Facer V; EURORDIS - Rare Diseases Europe, Paris, France.
    Gumus G; EURORDIS - Rare Diseases Europe, Paris, France.
    Horvath R; Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.
    Chinnery P; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge and MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK.
    Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany.
    Robinson P; The Jackson Laboratory For Genomic Medicine, Farmington, CT, 06032, USA.
    Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
    Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
    Bonne G; Sorbonne Universite - Inserm UMRS 974, Center of Research in Myology, Institut de Myologie, G.H. Pitié-Salpêtrière Paris, 47, boulevard de l'Hopital, F-75 651, Paris Cedex 13, France.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 12; Vol. 15 (1), pp. 206. Date of Electronic Publication: 2020 Aug 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Data Management*
    Rare Diseases*/genetics
    Rare Diseases*/therapy
    Humans ; Research Design ; Systematic Reviews as Topic ; Writing
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-13 z 13

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