المؤلفون: Meurs, Kathryn M, Friedenberg, Steven G, Olby, Natasha J, Condit, Julia, Weidman, Jess, Rosenthal, Steve, Shelton, G Diane

المصدر: Genes. 10(2)

مصطلحات موضوعية: Biological Sciences, Genetics, Cardiovascular, Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Animals, Death, Sudden, Cardiac, Dog Diseases, Dogs, Female, Male, Mitochondria, Muscle, Mitochondrial Proteins, Mutation, Tachycardia, Ventricular, QIL1, Rhodesian ridgeback, arrhythmia, mitochondrial cristae

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6qd5h7kvTest

المؤلفون: Kathryn M. Meurs, Steven G. Friedenberg, Natasha J. Olby, Julia Condit, Jess Weidman, Steve Rosenthal, G. Diane Shelton

المصدر: Genes; Volume 10; Issue 2; Pages: 168

مصطلحات موضوعية: QIL1, Rhodesian ridgeback, arrhythmia, mitochondrial cristae

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Animal Genetics and Genomics; https://dx.doi.org/10.3390/genes10020168Test

الإتاحة: https://doi.org/10.3390/genes10020168Test

المؤلفون: Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff

المصدر: eLife, Vol 5 (2016)

مصطلحات موضوعية: QIL1, MICOS, mitochondrial disease, early-onset fatal mitochondrial encephalopathy, 3-methylglutaconic aciduria, liver disease, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/17163Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/c2eb5d8eb5b14293a741ed6e1db3525aTest

المؤلفون: Julia Condit, Kathryn M. Meurs, Steven G. Friedenberg, G. Diane Shelton, Natasha J. Olby, Steve Rosenthal, Jess A. Weidman

المصدر: Genes, vol 10, iss 2
Genes
Volume 10
Issue 2
Genes, Vol 10, Iss 2, p 168 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, lcsh:QH426-470, 040301 veterinary sciences, Biology, Mitochondrion, arrhythmia, Cardiovascular, Article, Sudden cardiac death, 0403 veterinary science, Serine, Mitochondrial Proteins, 03 medical and health sciences, Dogs, Tachycardia, Genotype, medicine, Genetics, Missense mutation, Animals, 2.1 Biological and endogenous factors, Dog Diseases, Aetiology, Gene, Genetics (clinical), mitochondrial cristae, Ventricular, Cardiac arrhythmia, 04 agricultural and veterinary sciences, medicine.disease, Phenotype, Sudden, Mitochondria, Muscle, Mitochondria, Death, lcsh:Genetics, QIL1, Death, Sudden, Cardiac, 030104 developmental biology, Heart Disease, Mutation, Rhodesian ridgeback, Tachycardia, Ventricular, Muscle, Female, Cardiac

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a87d926c4d3d32baca67d0a6b5cadfb9Test
https://escholarship.org/uc/item/6qd5h7kvTest

المؤلفون: Emmanuelle Lacène, Mylène Gilleron, Manuel Schiff, Joao A. Paulo, Eric S. Goetzman, Virginia Guarani, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Anne Lombès, Clémence Labasse, J. Wade Harper, P. Rustin, Norma B. Romero, Apolline Imbard, Abdelhamid Slama, Pauline Gaignard, Dominique Chrétien, Agnès Bourillon, Paule Bénit, Jean-François Benoist, Imen Dorboz, Claude Jardel

المساهمون: Department of Cell Biology [Boston, MA, USA], Harvard Medical School [Boston] (HMS), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie-hormonologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Department of Pediatrics [Pittsburgh, USA], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE)-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Service de Biochimie [Bicêtre], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Service de Radiologie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Reference Center for Inborn Errors of Metabolism [AP-HP Hôpital Robert Debré], Bos, Mireille, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Harvard Medical School - HMS [Boston, USA], Institut Cochin ( UM3 (UMR 8104 / U1016) ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Promoting Research Oriented Towards Early Cns Therapies ( PROTECT ), Université Paris Diderot - Paris 7 ( UPD7 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Association française contre les myopathies ( AFM-Téléthon ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), University of Pittsburgh School of Medicine [USA]-Children's Hospital of Pittsburgh of UPMC [Etats-Unis], Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre

المصدر: eLife, Vol 5 (2016)
eLife
eLife, 2016, ⟨10.7554/eLife.17163⟩
eLife, eLife Sciences Publication, 2016, ⟨10.7554/eLife.17163⟩
eLife, eLife Sciences Publication, 2016, 〈10.7554/eLife.17163〉

مصطلحات موضوعية: 0301 basic medicine, Male, Respiratory chain, Biology (General), Genetics, MICOS complex, biology, General Neuroscience, Liver Diseases, General Medicine, Null allele, Cell biology, MICOS, mitochondrial disease, Medicine, Female, 3-methylglutaconic aciduria, liver disease, Human, QH301-705.5, Mitochondrial disease, Protein subunit, Science, Microbial Sensitivity Tests, General Biochemistry, Genetics and Molecular Biology, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial Encephalomyopathies, medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Cytochrome c oxidase, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Human Biology and Medicine, [ SDV.BBM ] Life Sciences [q-bio]/Biochemistry, Molecular Biology, General Immunology and Microbiology, Siblings, Infant, Newborn, Membrane Proteins, Cell Biology, medicine.disease, QIL1, 030104 developmental biology, Mutation, biology.protein, early-onset fatal mitochondrial encephalopathy, Cristae formation, Research Advance

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17396ad1a15d3186381f7250deb58b00Test
https://elifesciences.org/articles/17163Test

المؤلفون: Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel

مصطلحات موضوعية: QIL1, MICOS, mitochondrial disease, early-onset fatal mitochondrial encephalopathy, 3-methylglutaconic aciduria, liver disease, Human

وصف الملف: application/pdf

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021520/pdfTest/; eLife; Guarani, V., C. Jardel, D. Chrétien, A. Lombès, P. Bénit, C. Labasse, E. Lacène, et al. 2016. “QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.” eLife 5 (1): e17163. doi:10.7554/eLife.17163. http://dx.doi.org/10.7554/eLife.17163Test.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:29407652Test

الإتاحة: https://doi.org/10.7554/eLife.17163Test
http://nrs.harvard.edu/urn-3:HUL.InstRepos:29407652Test