نتائج البحث - "B. Mousson de Camaret"

1

دورية أكاديمية

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

المساهمون: R. Kopajtich, T.J. Nicholl, J. Rorbach, M.D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, D. Ghezzi, R. Carrozzo, R.W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J.A. Mayr, S.F. Pearce, C.A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E.W. Sommerville, A. Pyle, P.F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T.M. Strom, T. Meitinger, E.S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T.B. Haack, M. Minczuk, H. Prokisch

مصطلحات موضوعية: acidosis, lactic, amino acid sequence, brain, brain disease, cardiomyopathy, hypertrophic, cell line, child, preschool, consanguinity, female, fibroblast, GTP-Binding protein, human, infant, newborn, male, molecular sequence data, mutation, pedigree, protein biosynthesi, RNA Interference, RNA, transfer, sequence alignment, protein processing, post-translational, genetic, genetics (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523766Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076

الإتاحة: https://doi.org/10.1016/j.ajhg.2014.10.017Test
http://hdl.handle.net/2434/523766Test

View record in BASE

2

Syndrome MELAS atypique

المؤلفون: B. Mousson de Camaret, A. Echaniz Laguna, Christine Tranchant, Béatrice Lannes, Marie-Céline Fleury

المصدر: Pratique Neurologique - FMC. 3:330-334

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3834c15acd1a3024ce411f1c7a1ec61eTest
https://doi.org/10.1016/j.praneu.2012.09.002Test

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The wide POLG-related spectrum: An integrated view

المساهمون: Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: J Neurol Sci
J Neurol Sci, 2016, 368, pp.70-6. ⟨10.1016/j.jns.2016.06.062⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Mitochondrial DNA, Encephalopathy, Mutation, Missense, Mitochondrial diseases, DNA-Directed DNA Polymerase, Biology, Ophthalmoparesis, Tertiary Care Centers, 03 medical and health sciences, Dysarthria, Young Adult, 0302 clinical medicine, Genotype, medicine, 80 and over, Missense mutation, Humans, Age of Onset, Genetic Association Studies, Aged, Retrospective Studies, Genetics, Aged, 80 and over, Cerebellar ataxia, Muscles, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, 3. Good health, DNA Polymerase gamma, Europe, 030104 developmental biology, Mitochondrial respiratory chain, Phenotype, Neurology, Mutation, Female, Neurology (clinical), medicine.symptom, Missense, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology