المؤلفون: Biljana Ermanoska, William W. Motley, Ricardo Leitão-Gonçalves, Bob Asselbergh, LaTasha H. Lee, Peter De Rijk, Kristel Sleegers, Tinne Ooms, Tanja A. Godenschwege, Vincent Timmerman, Kenneth H. Fischbeck, Albena Jordanova

المصدر: Neurobiology of Disease, Vol 68, Iss , Pp 180-189 (2014)

مصطلحات موضوعية: Drosophila, Aminoacyl-tRNA synthetase, Charcot–Marie–Tooth disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996114001090; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/1c8ff5a5c8544ffba3587694d672656c

المؤلفون: Albena Jordanova, David Blocquel, Derek Atkinson, Tinne Ooms, Thorsten Hornemann, Vedrana Milic Rasic, Xiang-Lei Yang, Biljana Ermanoska, Alejandro Estrada-Cuzcano, Regula Steiner, Jelena Nikodinovic Glumac, K. Peeters, Els De Vriendt, Bob Asselbergh

المساهمون: University of Zurich, Jordanova, Albena

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Mutation, Missense, 610 Medicine & health, Biology, Protein degradation, medicine.disease_cause, Compound heterozygosity, Article, Animals, Genetically Modified, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, Downregulation and upregulation, Charcot-Marie-Tooth Disease, Sphingosine, Internal medicine, 540 Chemistry, medicine, Missense mutation, Animals, Drosophila Proteins, Humans, Lymphocytes, Exome sequencing, Cells, Cultured, 10038 Institute of Clinical Chemistry, Aldehyde-Lyases, Neurons, Mutation, Siblings, medicine.disease, 3. Good health, 2728 Neurology (clinical), 030104 developmental biology, Peripheral neuropathy, Endocrinology, Drosophila melanogaster, chemistry, Codon, Nonsense, Female, Neurology (clinical), Human medicine, Lysophospholipids

وصف الملف: pdf; 533full.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e5465acabedf6040aaf9ded4c41249
https://hdl.handle.net/10067/1421940151162165141

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: Kristel Sleegers, Peter De Rijk, Tinne Ooms, LaTasha H. Lee, Kenneth H. Fischbeck, Biljana Ermanoska, Bob Asselbergh, Ricardo Leitão-Gonçalves, William W. Motley, Vincent Timmerman, Tanja A. Godenschwege, Albena Jordanova

المصدر: Neurobiology of Disease, Vol 68, Iss, Pp 180-189 (2014)
Neurobiology of disease

مصطلحات موضوعية: Glycine-tRNA Ligase, Male, Mutant, Charcot–Marie–Tooth disease, Biology, medicine.disease_cause, Retina, Article, lcsh:RC321-571, Membrane Potentials, Glycine—tRNA ligase, Animals, Genetically Modified, chemistry.chemical_compound, Nerve Fibers, Charcot-Marie-Tooth Disease, Tyrosine-tRNA Ligase, medicine, Animals, Drosophila Proteins, Humans, Wings, Animal, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Gene, Genetics, Neurons, Mutation, Aminoacyl tRNA synthetase, Rhodamines, Neurodegeneration, Retinal Degeneration, Peripheral Nervous System Diseases, Dextrans, medicine.disease, Disease Models, Animal, Neurology, chemistry, Transfer RNA, Aminoacyl-tRNA synthetase, Drosophila, Female, Human medicine, Drosophila Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fba1b577351303d0591f60c7e35360f3
https://pubmed.ncbi.nlm.nih.gov/24807208

المؤلفون: Tinne Ooms, Stefano C. Previtali, Zoran Mitrović, Van Dijck P, Haluk Topaloglu, Silvia Lechner, Vedrana Milic Rasic, J. Nikodinovic, Wolfgang Löscher, Thomas Müller, Albena Jordanova, Michaela Auer-Grumbach, Yesim Parman, S. Todorovic, Leonardo Almeida-Souza, Van Damme P, Esra Battaloglu, Erik Fransen, Hahn Af, Dusanka Savic-Pavicevic, Nina Barišić, Jonathan Baets, Beleza-Meireles A, Andreas R. Janecke, Guergueltcheva, Günther Bernert, De Vriendt E, Stephan Züchner, Timmerman, De Rijk P, K. Peeters, Zeliha Matur, Boryana Ishpekova, Britt-Sabina Petersen, De Jonghe P, Ivailo Tournev, Magdalena Zimoń

المصدر: Nature genetics

مصطلحات موضوعية: Axonal neuropathy, Saccharomyces cerevisiae Proteins, Neuromyotonia, DNA Mutational Analysis, Mutation, Missense, Gene Expression, Genes, Recessive, Nerve Tissue Proteins, Saccharomyces cerevisiae, Biology, medicine.disease_cause, Myotonia, 03 medical and health sciences, Mice, 0302 clinical medicine, Genetic linkage, Genetics, medicine, Missense mutation, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Loss function, Conserved Sequence, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Genetic Complementation Test, Syndrome, medicine.disease, 3. Good health, Human medicine, generated lysyl-adenylate, histidine, supports, mice, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2cece435697cee9fa78d5b14fd9c56c
https://www.bib.irb.hr/744732

المؤلفون: Paul Schimmel, Tinne Ooms, Monica Mejia, Leslie A. Nangle, Xiang-Lei Yang, Patrick Callaerts, Vincent Timmerman, Albena Jordanova, Koenraad Norga, Inge Bosmans, Tanja A. Godenschwege, Ricardo Leitão-Gonçalves, An Jacobs, Erik Storkebaum, Patrick Van Dijck

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: Mutant, Motor Activity, Biology, medicine.disease_cause, Animals, Genetically Modified, Charcot-Marie-Tooth Disease, Tyrosine-tRNA Ligase, medicine, Animals, Luciferases, Gene, Genes, Dominant, Neurons, Genetics, Mutation, Multidisciplinary, Neurodegeneration, Biological Sciences, medicine.disease, Phenotype, Electrophysiology, Complementation, Disease Models, Animal, Peripheral neuropathy, Drosophila, Human medicine, Haploinsufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c90cb9ef8fc958cd165da5e6afbd82d4
https://hdl.handle.net/10067/782780151162165141

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

المصدر: Neuromuscular Disorders. 24:888

مصطلحات موضوعية: Weakness, medicine.diagnostic_test, business.industry, Physiology, Anatomy, SMN1, Spinal muscular atrophy, Electromyography, Motor neuron, Gene mutation, SMA, medicine.disease, medicine.anatomical_structure, Neurology, Anterior Horn Cell, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db0046bca5918b65a79c9cea5e736a51
https://doi.org/10.1016/j.nmd.2014.06.313