المؤلفون: Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-10 (2018)

مصطلحات موضوعية: TRAPPC11, GOSR2, Golgi, Dystroglycanopathy, Dystroglycan, Muscular dystrophy, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13395-018-0163-0; https://doaj.org/toc/2044-5040

URL الوصول: https://doaj.org/article/34eec2f6491f4e40885be0912b53e061

المؤلفون: Alessandro Cinti, Valerie Le Sage, Miroslav P. Milev, Fernando Valiente-Echeverría, Christina Crossie, Marie-Joelle Miron, Nelly Panté, Martin Olivier, Andrew J. Mouland

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-14 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/12b9328987c2422886cdbc8d51c8c04b

المؤلفون: Stephanie eBrunet, Djenann eSaint-Dic, Miroslav P. Milev, Tommy eNilsson, MICHAEL eSACHER

المصدر: Frontiers in Cell and Developmental Biology, Vol 4 (2016)

مصطلحات موضوعية: GEF, gap, TRAPP, Ypt31, Gyp6, Ypt6, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fcell.2016.00048/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/ab7828b5327a4d1bb737c5f64f3280ac

المؤلفون: Miroslav P. Milev, Mukunthan eRavichandran, Morgan F. Khan, David C. Schriemer, Andrew J. Mouland

المصدر: Frontiers in Microbiology, Vol 3 (2012)

مصطلحات موضوعية: HIV-1, Mass Spectrometry, Gag, virus-host interactions, genomic RNA, gradient centrifugation, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fmicb.2012.00367/full; https://doaj.org/toc/1664-302X

URL الوصول: https://doaj.org/article/5c2c253c6cbe43b4a954e70d9604fc87

المؤلفون: Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: myopathy, ubiquitylation, skeletal muscle, genetic disease, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/81966; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/e9f154452fff4bc5b183818788e75991

المؤلفون: Paria Asadi, Miroslav P. Milev, Djenann Saint‐Dic, Chiara Gamberi, Michael Sacher

المصدر: Journal of inherited metabolic disease.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b76752cecf0b8ddcd56887765d760e
https://pubmed.ncbi.nlm.nih.gov/36502486

المؤلفون: Paria Asadi, Miroslav P. Milev, Djenann Saint-Dic, Chiara Gamberi, Michael Sacher

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4b0a803939332ab49f7b5029846a7bfc
https://doi.org/10.1101/2022.11.04.514597

المؤلفون: Lettie E. Rawlins, Hashem Almousa, Shazia Khan, Stephan C. Collins, Miroslav P. Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O. Day, Lucy McGavin, Christine Rowley, Gaurav V. Harlalka, Valerie E. Vancollie, Wasim Ahmad, Christopher J. Lelliott, Asma Gul, Binnaz Yalcin, Andrew H. Crosby, Michael Sacher, Emma L. Baple

المساهمون: Rawlins, Lettie E [0000-0002-6764-253X], Almousa, Hashem [0000-0003-2679-5350], Collins, Stephan C [0000-0002-1533-3380], Leslie, Joseph [0000-0003-0972-8818], Saint-Dic, Djenann [0000-0001-9328-7108], Khan, Valeed [0000-0002-3840-5439], Day, Jacob O [0000-0002-6020-510X], Harlalka, Gaurav V [0000-0001-8968-2447], Vancollie, Valerie E [0000-0003-1547-1975], Lelliott, Christopher J [0000-0001-8087-4530], Yalcin, Binnaz [0000-0002-1924-6807], Crosby, Andrew H [0000-0003-3667-9054], Sacher, Michael [0000-0003-2926-5064], Baple, Emma L [0000-0002-6637-3411], Apollo - University of Cambridge Repository, University of Exeter Medical School, University of Exeter, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Concordia University [Montreal], International Islamic University [Islamabad, Pakistan] (2IU), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Rehman Medical Institute [Peshawar, Pakistan] (RMI), Plymouth University, University Hospitals Plymouth NHS Trust [Plymouth, UK] (UHP), The Wellcome Trust Sanger Institute [Cambridge], Rajarshi Shahu College of Pharmacy [Malvihir, Buldana, India] (RSCP), Quaid-i-Azam University (QAU), McGill University = Université McGill [Montréal, Canada], Dupuis, Christine

المصدر: PLoS Genetics
PLoS Genetics, 2022, 18 (3), pp.e1010114. ⟨10.1371/journal.pgen.1010114⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Cancer Research, Mice, Phenotype, Neurodevelopmental Disorders, [SDV]Life Sciences [q-bio], Genetics, Microcephaly, Animals, Humans, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c3a77db595ef26be0cf917c263652a
https://www.repository.cam.ac.uk/handle/1810/336807

المؤلفون: Khashayar Zardoui, Christopher Law, Thomas Klopstock, Miroslav P. Milev, Felix Distelmaier, Djenann Saint-Dic, Michael Sacher

المصدر: Journal of Inherited Metabolic Disease 44(2), 426-437 (2021). doi:10.1002/jimd.12312

مصطلحات موضوعية: Cell, Golgi Apparatus, Mitochondrion, Endoplasmic Reticulum, Rhabdomyolysis, metabolism [Endoplasmic Reticulum], Golgi, Exome, Genetics (clinical), 0303 health sciences, 030305 genetics & heredity, genetics [Rhabdomyolysis], Phenotype, Mitochondria, Pedigree, Cell biology, mitochondria, Protein Transport, medicine.anatomical_structure, Lactic acidosis, symbols, TANGO2, metabolism [Fibroblasts], membrane traffic, Biology, metabolism [Golgi Apparatus], cardiac arrhythmia, 03 medical and health sciences, symbols.namesake, Genetics, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Endoplasmic reticulum, Aryl Hydrocarbon Receptor Nuclear Translocator, Arrhythmias, Cardiac, Fibroblasts, Golgi apparatus, metabolism [Mitochondria], medicine.disease, genetics [Arrhythmias, Cardiac], Mutation, rhabdomyolysis, genetics [Mitochondria], genetics [Aryl Hydrocarbon Receptor Nuclear Translocator], Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac828f95d1e6c1d0571189e0b1a8b7f
https://doi.org/10.1002/jimd.12312

المؤلفون: Priyanka Ahimaz, Yufeng Sheng, Jacob J. Hagen, Wendy K. Chung, Michael Sacher, Zaheer Valivullah, Volkan Okur, Mythily Ganapathi, Miroslav P. Milev, Noraldin Al-Deri

المصدر: J Med Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Protein subunit, DNA Mutational Analysis, Vesicular Transport Proteins, Article, Structure-Activity Relationship, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Amino Acid Sequence, Global developmental delay, Age of Onset, Alleles, Genetic Association Studies, Genetics (clinical), Whole genome sequencing, biology, Homozygote, Membrane Transport Proteins, Golgi apparatus, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, TRAPP complex, Amino Acid Substitution, Haplotypes, Neurodevelopmental Disorders, Mutation, symbols, biology.protein, Female, Protein Multimerization, 030217 neurology & neurosurgery, Protein Binding, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c96e598f2a71699777a83f839b93fe1
https://doi.org/10.1136/jmedgenet-2020-107016