المؤلفون: Magdalena Zimoń, Yunfeng Huang, Anthi Trasta, Aliaksandr Halavatyi, Jimmy Z. Liu, Chia-Yen Chen, Peter Blattmann, Bernd Klaus, Christopher D. Whelan, David Sexton, Sally John, Wolfgang Huber, Ellen A. Tsai, Rainer Pepperkok, Heiko Runz

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/2bb3a6e883434f35aa8c3f3734f6d85f

المؤلفون: A.C. Alves, Magdalena Zimoń, A.M. Medeiros, R. Pepperkok, R. Graça, V. Benes, T. Raush, M. Bourbon, N. Rossi

مصطلحات موضوعية: lipids (amino acids, peptides, and proteins), Familial Hypercholesterolemia, Cardiology and Cardiovascular Medicine, Doenças Cardio e Cérebro-vasculares

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390aab5a19dc11195df7f3b05cba13a1
https://hdl.handle.net/10400.18/6352

المؤلفون: Magdalena Zimoń, M. Bourbon, R. Pepperkok, A.C. Alves, R. Graça

المصدر: Atherosclerosis. 315:e97

مصطلحات موضوعية: Chemistry, Microscopy, LDL receptor, Profiling (information science), Computational biology, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5771da402e5fe3c21bddc821d3451203
https://doi.org/10.1016/j.atherosclerosis.2020.10.297

المؤلفون: Magdalena Zimoń, Aliaksandr Halavatyi, Bernd Klaus, J. Liu, Heiko Runz, Rainer Pepperkok, Anthi Trasta, Y. Huang

المصدر: Atherosclerosis. 315:e191

مصطلحات موضوعية: Genetics, chemistry.chemical_compound, chemistry, Low-density lipoprotein, Genome-wide association study, Plasma levels, Biology, Cardiology and Cardiovascular Medicine, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::282edc8e53b027b8a7ce4eb938789b88
https://doi.org/10.1016/j.atherosclerosis.2020.10.593

المؤلفون: Ivailo Tournev, Peter De Rijk, Vanyo Mitev, Teodora Chamova, Magdalena Zimoń, Albena Jordanova, Gian Maria Fabrizi, Ahmet Yaramis, Daliya Kancheva, Alejandro Estrada-Cuzcano, Derek Atkinson, Haluk Topaloglu, Esra Battaloglu, Yesim Parma

المساهمون: Çocuk Sağlığı ve Hastalıkları

المصدر: Genetics in medicine

مصطلحات موضوعية: Male, 0301 basic medicine, Hereditary spastic paraplegia, Consanguinity, medicine.disease_cause, Polymorphism, Single Nucleotide, Identity by descent, 03 medical and health sciences, Charcot-Marie-Tooth Disease, Exome Sequencing, medicine, PLINK, Humans, SNP, whole-exome sequencing, hereditary spastic paraplegia, Genetics (clinical), Exome sequencing, Genetics & Heredity, Genetics, Mutation, Spastic Paraplegia, Hereditary, business.industry, beta-Glucosidase, Homozygote, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Disease gene identification, medicine.disease, Pedigree, Cytoskeletal Proteins, genomic DNA, Charcot-Marie-Tooth neuropathy, homozygosity mapping, 030104 developmental biology, Glucosylceramidase, Female, Human medicine, Carrier Proteins, business

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a23f20e111106b47cd9e2030b248961
https://doi.org/10.1038/gim.2015.139

المؤلفون: M. Bourbon, Magdalena Zimoń, N. Rossi, Vladimir Benes, L.B. Abrantes, R. Graça, A.C. Alves, R. Pepperkok, A.M. Medeiros, Tobias Rausch

المصدر: Atherosclerosis. 287:e93

مصطلحات موضوعية: Genetics, business.industry, Cohort, Mutation (genetic algorithm), Medicine, Cardiology and Cardiovascular Medicine, business, Functional genomics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7c8c22aac7989fe60a06623547d2a67b
https://doi.org/10.1016/j.atherosclerosis.2019.06.269

المؤلفون: L.B. Abrantes, M. Bourbon, Tobias Rausch, A.M. Medeiros, Vladimir Benes, N. Rossi, Rainer Pepperkok, R. Graça, A.C. Alves, Magdalena Zimoń

المصدر: Atherosclerosis. 275:e80

مصطلحات موضوعية: Genetics, business.industry, medicine, Familial hypercholesterolemia, Clinical case, Cardiology and Cardiovascular Medicine, medicine.disease, business, Gene, Sitosterolemia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::199bab78960bf5184e5a4d4d1f44e533
https://doi.org/10.1016/j.atherosclerosis.2018.06.220

المؤلفون: Magdalena Zimoń, Vincent Timmerman, Bob Asselbergh, Teodora Chamova, Ivailo Tournev, Thomas Geuens, Tinne Ooms, Albena Jordanova, Els De Vriendt, Elke Ydens, Vicky De Winter, Leonardo Almeida-Souza, Ivan Litvinenko, K. Peeters, Joy Irobi

المصدر: The American journal of human genetics

مصطلحات موضوعية: Adult, Male, Dynein, Mutation, Missense, SMN1, Biology, Muscular Atrophy, Spinal, Young Adult, RAB6A, Report, Genetics, medicine, Humans, Genetics(clinical), Child, Genetic Association Studies, Genetics (clinical), Proximal spinal muscular atrophy, Genes, Dominant, Base Sequence, Colocalization, Sequence Analysis, DNA, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, BICD2, Molecular biology, Pedigree, Protein Transport, rab GTP-Binding Proteins, Child, Preschool, Female, Human medicine, Carrier Proteins, Microtubule-Associated Proteins, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d419d4ce0e28de43c761efc6a6ad103
https://doi.org/10.1016/j.ajhg.2013.04.013

المؤلفون: José Berciano, Eduardo López-Laso, Jon Infante, Elena Gallardo, Jonathan Baets, Magdalena Zimoń, Antonio G. García, Vincent Timmerman, Peter De Jonghe, Onofre Combarros, Albena Jordanova

المصدر: Journal of neurology

مصطلحات موضوعية: Adult, Male, Proband, TRPV4, Pathology, medicine.medical_specialty, Genetic counseling, TRPV Cation Channels, Penetrance, Gene mutation, Biology, medicine, Humans, Child, Aged, Arthrogryposis, Electromyography, Spinal muscular atrophy, medicine.disease, Magnetic Resonance Imaging, Pedigree, Surgery, Phenotype, Neurology, Mutation, Mutation (genetic algorithm), Female, Human medicine, Neurology (clinical), medicine.symptom, Hereditary Sensory and Motor Neuropathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab11b4aa6da37b7a839c6c84f2688b2
https://doi.org/10.1007/s00415-011-5947-7

المؤلفون: David R. Cornblath, Nina Huber, Vincent Timmerman, Alice B. Schindler, E. Jaakkola, Dagmara Kabzińska, J. Pilch, Michaela Auer-Grumbach, Albena Jordanova, Andrzej Kochański, P. De Jonghe, Christian Guelly, Magdalena Zimoń, Irena Hausmanowa-Petrusewicz, Ueli Suter, Gian Maria Fabrizi, Axel Niemann, Kenneth H. Fischbeck, E. De Vriendt, Jonathan Baets

المصدر: Neurology

مصطلحات موضوعية: DNA Mutational Analysis, Nerve Tissue Proteins, Paternity, Disease, Biology, medicine.disease_cause, Article, Cohort Studies, 03 medical and health sciences, Exon, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Chlorocebus aethiops, medicine, Animals, Humans, Allele, Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations, autosomal recessive Charcot-Marie-Tooth (ARCMT), neuropathy, autosomal dominant Charcot-Marie-Tooth (ADCMT), Genes, Dominant, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Haplotype, Exons, Penetrance, Phenotype, Axons, Introns, Mitochondria, Pedigree, 3. Good health, Haplotypes, COS Cells, Mutation testing, Human medicine, Neurology (clinical), 030217 neurology & neurosurgery, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7769223aaa3a27ea48f0c4a43a4869
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272385/?tool=pubmed