المؤلفون: Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/47fc7e25d01448cf87274ea536ba865fTest

المؤلفون: Lu Wang, Zhen Li, David Sievert, Desirée E. C. Smith, Marisa I. Mendes, Dillon Y. Chen, Valentina Stanley, Shereen Ghosh, Yulu Wang, Majdi Kara, Ayca Dilruba Aslanger, Rasim O. Rosti, Henry Houlden, Gajja S. Salomons, Joseph G. Gleeson

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/cc10dd5665ed408989d1b2eddc9acfe5Test

المؤلفون: Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/0451d47dda844ada9b1700050648a958Test

المؤلفون: Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/2b11aa05a4174343ac7596764303089fTest

المؤلفون: Dominik Fröhlich, Marisa I. Mendes, Andrew J. Kueh, Andre Bongers, Marco J. Herold, Gajja S. Salomons, Gary D. Housley, Matthias Klugmann

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: HBSL, DARS1, AspRS, aminoacyl-tRNA synthetase, aspartyl-tRNA synthetase, leukodystrophy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2020.625879/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/2a471b43f5584d4da9624c90395f5e86Test

المؤلفون: Elena Botta, Arjan F Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Maria Accadia, Anita Lombardi, Desiree E C Smith, Marisa I Mendes, Sigrid M A Swagemakers, Peter J Van Der Spek, Gajja S Salomons, Jan H J Hoeijmakers, Dhanya Yesodharan, Sheela Nampoothiri, Tomoo Ogi, Alan Lehmann, Donata Orioli, Wim Vermeulen

مصطلحات موضوعية: Uncategorised value

العلاقة: 10779/uos.23486783.v1; https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

الإتاحة: https://figshare.com/articles/journal_contribution/Protein_instability_associated_with_AARS1_and_MARS1_mutations_causes_trichothiodystrophy/23486783Test

المؤلفون: Jean-Marie Ravel, Jean-Louis Guéant, Natacha Dreumont, Marc Polivka, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Julien Thevenon, David Coelho, Gajja S. Salomons, Desirée E.C. Smith, Pauline Mosca, Emmanuelle Schmitt, Laurence Faivre, Gautam Kok, Marisa I. Mendes, Christel Thauvin-Robinet, Sabine A. Fuchs, Paul Kuentz, Arnaud Wiedemann, François Feillet

المساهمون: Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience

المصدر: Human Mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Human mutation, 42(12), 1576-1583. Wiley-Liss Inc.
Ravel, J-M, Dreumont, N, Mosca, P, Smith, D E C, Mendes, M I, Wiedemann, A, Coelho, D, Schmitt, E, Rivière, J-B, Tran Mau-Them, F, Thevenon, J, Kuentz, P, Polivka, M, Fuchs, S A, Kok, G, Thauvin-Robinet, C, Guéant, J-L, Salomons, G S, Faivre, L & Feillet, F 2021, ' A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever ', Human Mutation, vol. 42, no. 12, pp. 1576-1583 . https://doi.org/10.1002/humu.24285Test

مصطلحات موضوعية: Ataxia, brain, Cardiomyopathy, SARS1, Loss of Heterozygosity, Biology, Amino Acyl-tRNA Synthetases, chemistry.chemical_compound, deafness, death, Genetics, medicine, Protein biosynthesis, Missense mutation, Humans, Decompensation, aminoacyl-tRNA synthetase, Child, tRNA, Genetics (clinical), aminoacylation, Aminoacyl tRNA synthetase, medicine.disease, Elongation factor, chemistry, intellectual disability, Transfer RNA, medicine.symptom, Cardiomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c2348fc9d2866c9be5ca55eaa73a8aTest
https://doi.org/10.1002/humu.24285Test

المؤلفون: Donata Orioli, Maria Accadia, Anja Raams, Sarah Giachetti, Sigrid M.A. Swagemakers, Wim Vermeulen, Dhanya Yesodharan, Arjan F. Theil, Giuseppina Caligiuri, Elena Botta, Alan R. Lehmann, Desirée E.C. Smith, Tomoo Ogi, Marisa I. Mendes, Sheela Nampoothiri, Silvia Bione, Gajja S. Salomons, Anita Lombardi, Peter J. van der Spek, Jan H.J. Hoeijmakers

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Molecular Genetics, Pathology, Laboratory Genetic Metabolic Diseases, ANS - Amsterdam Neuroscience

المصدر: Human Molecular Genetics, 30(18), 1711-1720. Oxford University Press
Botta, E, Theil, A F, Raams, A, Caligiuri, G, Giachetti, S, Bione, S, Accadia, M, Lombardi, A, Smith, D E C, Mendes, M I, Swagemakers, S M A, van der Spek, P J, Salomons, G S, Hoeijmakers, J H J, Yesodharan, D, Nampoothiri, S, Ogi, T, Lehmann, A R, Orioli, D & Vermeulen, W 2021, ' Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy ', Human Molecular Genetics, vol. 30, no. 18, pp. 1711-1720 . https://doi.org/10.1093/hmg/ddab123Test
Human molecular genetics, 30(18), 1711-1720. Oxford University Press
Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Premature aging, Trichothiodystrophy, Methionine-tRNA Ligase, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Transcription (biology), Enzyme Stability, Gene expression, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Whole Genome Sequencing, Alanine-tRNA Ligase, Translation (biology), General Medicine, medicine.disease, Female, General Article, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80ac1532350b23f224d8cc845fca680Test
http://www.scopus.com/inward/record.url?scp=85115957950&partnerID=8YFLogxKTest

المؤلفون: Monique E. Dijsselhof, Tom J. de Koning, Laura A. Tseng, Edward E. S. Nieuwenhuis, Elise A. Ferreira, Rachel Kassel, Margreet van den Born, Holger Rehmann, Sabine A. Fuchs, Gautam Kok, Imre F. Schene, Marie Canton, Suzanne W J Terheggen-Lagro, Arnaud Wiedemann, Joy Dean, Desiree E.C. Smith, Megan Boothe, Clara D.M. van Karnebeek, Gajja Salomons, François Feillet, Marisa I. Mendes

المساهمون: Graduate School, Paediatrics, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, ANS - Amsterdam Neuroscience, Paediatric Pulmonology, Laboratory Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatrics, Movement Disorder (MD)

المصدر: Genetics in Medicine
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-zTest
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group

مصطلحات موضوعية: chemistry.chemical_classification, business.industry, Common disease, Aminoacylation, Pharmacology, Brief Communication, Pathophysiology, Amino acid, Cytosol, medicine.anatomical_structure, chemistry, medicine, Protein translation, Patient group, Fibroblast, business, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2012eaffda71bfe00609b875bbfe5f2bTest
http://europepmc.org/articles/PMC8244667Test

المؤلفون: Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943Test

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genes, Recessive, Aminoacylation, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Protein biosynthesis, Humans, Missense mutation, ddc:610, Allele, Child, Lung, Gene, Alleles, Genetics (clinical), G alpha subunit, Aminoacyl tRNA synthetase, Infant, Newborn, Infant, Translation (biology), Pedigree, ddc, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Mutation, Female, Phenylalanine-tRNA Ligase, Lung Diseases, Interstitial

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5fab26fa1d0a162b6e323085ef2387Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inwardTest