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1
المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber
المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test -
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المؤلفون: Barone, RITA MARIA ELISA, Aiello, C, Race, V, Morava, E, Foulquier, F, Riemersma, M, Passarelli, C, Concolino, D, Carella, M, Santorelli, F, Vleugels, W, Mercuri, E, Garozzo, Domenico, Sturiale, L, Messina, S, Jaeken, J, Fiumara, Agata, Wevers, Ra, Bertini, E, Matthijs, G, 2012 Oct, Lefeber D. J. Ann N. e. u. r. o. l., 72:550, 8.
المصدر: Annals of Neurology, 72, 550-8
Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
Annals of Neurology, 72, 4, pp. 550-8مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, Drug Resistance, Endoplasmic Reticulum, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Pregnancy, Missense mutation, Muscular dystrophy, Child, Dystroglycans, Mutation, Liver Diseases, Middle Aged, Hypotonia, Neurology, Child, Preschool, Microcephaly, Female, medicine.symptom, Lipid glycosylation, Adult, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Mutation, Missense, Vision Disorders, DOLICHOL-PHOSPHATE-MANNOSE, CAUSES CONGENITAL DISORDER, MAMMALIAN-CELLS, GLYCOSYLATION, SYNTHASE, BIOSYNTHESIS, GENE, DPM1, PROTEIN, IE, Coagulation Protein Disorders, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Internal medicine, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Aged, Epilepsy, Electromyography, Endoplasmic reticulum, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Endocrinology, chemistry, Neurology (clinical), Isoelectric Focusing, Mannose
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f8f06d840958b8a38d6b1ac4c27275Test
https://doi.org/10.1002/ana.23632Test -
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المؤلفون: Justyna Paprocka, Eva Morava, Lambert P. van den Heuvel, Ron A. Wevers, Christian Thiel, Maciej Adamowicz, Ewa Jamroz, Joris A. Veltman, Richard J. Rodenburg, Sharitakoemari Timal, Christian Gilissen, Francjan J. van Spronsen, Karin Huijben, Jolanta Sykut-Cegielska, Ilse Eidhof, Ludwig Lehle, Alexander Hoischen, Christian Körner, Dirk Lefeber
المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Human Molecular Genetics, 21, 19, pp. 4151-61
Human Molecular Genetics, 21, 4151-61
Human Molecular Genetics, 21(19), 4151-4161. Oxford University Pressمصطلحات موضوعية: Male, Candidate gene, Glycosylation, Aetiology, screening and detection [ONCOL 5], Compound heterozygosity, medicine.disease_cause, SERUM, Cohort Studies, TRANSFERASE, Congenital Disorders of Glycosylation, Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Mutation, DPAGT1, General Medicine, Disease gene identification, Pedigree, DEFICIENCY, DOLICHOL, Mitochondrial medicine [IGMD 8], Child, Preschool, Female, STEPS, ENZYMES, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Molecular Sequence Data, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, medicine, Humans, YEAST, BIOSYNTHESIS, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Genome, Human, MUTATIONS, Infant, Proteins, Sequence Analysis, DNA, Glycostation disorders [IGMD 4], CDG, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9da8dfe4b5f3208627f62c6929d6debTest
https://hdl.handle.net/2066/107982Test -
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المؤلفون: Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber
المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Peptide, Neuroinformatics [DCN 3], CDG - an update, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Isoelectric focusing, Transferrin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Molecular biology, Human genetics, Renal disorder Membrane transport and intracellular motility [IGMD 9], Isoelectric point, chemistry, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Isoelectric Focusing, Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational, Neuraminidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7dcbabbbc3a6412ee94b427ea67e89Test
https://doi.org/10.1007/s10545-011-9311-yTest -
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المؤلفون: Stefan Ljunggren, Helen Karlsson, Dirk Lefeber, Geesje M. Dallinga-Thie, Johannes M. F. G. Aerts, Daniel S. Herman, Johannes H.M. Levels, Erik S.G. Stroes, John J.P. Kastelein, Eva Morava, Jan Albert Kuivenhoven, Thomas M. Beres, Ruei Shiuan Lin, Jonathan G. Seidman, M. Mahdi Motazacker, Aeilko H. Zwinderman, Timothy A. Fritz, Lawrence A. Tabak, Christine E. Seidman, Adriaan G. Holleboom, Ron A. Wevers, Jeroen A. Sierts, Mats Lindahl, G. Kees Hovingh
المساهمون: Vascular Medicine, Other departments, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Human Genetics, Amsterdam institute for Infection and Immunity, Experimental Vascular Medicine, Amsterdam Public Health, Epidemiology and Data Science, Cardiovascular Centre (CVC), Lifestyle Medicine (LM), Vascular Ageing Programme (VAP), Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Cell metabolism, 14(6), 811-818. Cell Press
Cell metabolism, 14(6), 811-818. CELL PRESS
Cell Metabolism, 14, 6, pp. 811-8
CELL METABOLISM, 14(6), 811-818
Cell Metabolism, 14, 811-8مصطلحات موضوعية: Male, Apolipoprotein B, Physiology, Neuroinformatics [DCN 3], 030204 cardiovascular system & hematology, chemistry.chemical_compound, 0302 clinical medicine, Electrophoresis, Gel, Two-Dimensional, APOLIPOPROTEIN-C-III, 0303 health sciences, Lipoprotein lipase, Middle Aged, Postprandial Period, Cholesterol, Biochemistry, N-Acetylgalactosaminyltransferases, Female, lipids (amino acids, peptides, and proteins), LIPOPROTEIN-LIPASE S447X, Adult, Heterozygote, medicine.medical_specialty, Glycosylation, 2-DIMENSIONAL GEL-ELECTROPHORESIS, METABOLISM, Biology, Models, Biological, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Internal medicine, medicine, Humans, Lipase, Molecular Biology, Aged, 030304 developmental biology, Apolipoprotein C-III, APOPROTEINS, Triglyceride, GLYCOSYLATION, Lipid metabolism, MASS-SPECTROMETRY, Cell Biology, Glycostation disorders [IGMD 4], HEPATIC-UPTAKE, Lipoprotein Lipase, Endocrinology, chemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Mutation, RICH LIPOPROTEINS, biology.protein, ANGIOPOIETIN-LIKE PROTEIN-3, Peptides
وصف الملف: application/pdf
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https://doi.org/10.1016/j.cmet.2011.11.005Test -
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المؤلفون: Jorieke E. H. Bergman, Vincent Cantagrel, Jeroen Schoots, Dirk J. Lefeber, Michèl A.A.P. Willemsen, Peter Bluemel, Christian Körner, Ron A. Wevers, Georg F. Hoffmann, Bobby G. Ng, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Maciej Adamowicz, Hans van Bokhoven, Dusica Babovic-Vuksanovic, Arjan P.M. de Brouwer, Arno van Rooij, Lihadh Al-Gazali, Jeroen van Reeuwijk, Eva Morava, Marjolein C. J. Jongmans, Ludwig Lehle, Jolanta Sykut-Cegielska, Lies H. Hoefsloot, Joseph G. Gleeson
المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)
المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test -
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المؤلفون: Ewa Pronicka, Maciej Adamowicz, Liesbeth Keldermans, Felix Sánchez-Valverde, Ron A. Wevers, A Chabás, Gert Matthijs, Els Schollen, Paz Briones, François Foulquier
المصدر: Molecular Genetics and Metabolism, 90, 408-13
Molecular Genetics and Metabolism, 90, 4, pp. 408-13مصطلحات موضوعية: Male, Mutation rate, Glycosylation, Energy and redox metabolism [NCMLS 4], Endocrinology, Diabetes and Metabolism, Neuroinformatics [DCN 3], Biology, medicine.disease_cause, Compound heterozygosity, Biochemistry, Exon, Congenital Disorders of Glycosylation, Endocrinology, Perception and Action [DCN 1], Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Molecular Biology, Gene, Sequence Deletion, Mutation, Point mutation, Intron, Infant, Glycostation disorders [IGMD 4], Molecular biology, Introns, Neuromuscular development and genetic disorders [UMCN 3.1], Phosphotransferases (Phosphomutases), Child, Preschool, Female
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec45e582e550bd641be4656031333d73Test
https://hdl.handle.net/2066/53272Test -
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المؤلفون: Jaak Jaeken, Jaap A. Bakker, Richard Steet, H. J. Sijstermans, L. J. M. Spaapen, S. B. van der Meer, Ron A. Wevers
المصدر: Journal of Inherited Metabolic Disease, 28, 5, pp. 707-14
Journal of Inherited Metabolic Disease, 28, 707-14مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Apolipoprotein B, Golgi Apparatus, Neuroinformatics [DCN 3], Biology, chemistry.chemical_compound, symbols.namesake, Congenital Disorders of Glycosylation, N-linked glycosylation, Internal medicine, Leukocytes, Perception and Action [DCN 1], Genetics, medicine, Humans, Protein Isoforms, Apolipoproteins C, Genetics (clinical), Glycoproteins, Family Health, chemistry.chemical_classification, Apolipoprotein C-III, Isoelectric focusing, Siblings, Conserved oligomeric Golgi complex, Transferrin, Fibroblasts, Glycostation disorders [IGMD 4], Golgi apparatus, N-Acetylneuraminic Acid, Neuromuscular development and genetic disorders [UMCN 3.1], Sialic acid, Endocrinology, Liver, Genetic defects of metabolism [UMCN 5.1], chemistry, biology.protein, symbols, Female, Isoelectric Focusing, Lysosomes, Glycoprotein, Functional Neurogenomics [DCN 2], Carbohydrate Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96af222bfb63c8e8448a8c05e0262e79Test
https://doi.org/10.1007/s10545-005-0015-zTest -
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المؤلفون: Matthijs Raaben, Sean P. J. Whelan, Peter Meinecke, Marja W. Wessels, Dirk Lefeber, Hans van Bokhoven, Ellen van Beusekom, Arno Velds, Thijn R. Brummelkamp, Haluk Topaloglu, Ron M. Kerkhoven, Vincent A. Blomen, Moniek Riemersma, Lucas T. Jae, Jan E. Carette
المساهمون: Çocuk Sağlığı ve Hastalıkları, Clinical Genetics
المصدر: Science; Vol 340
Science, 340, 6131, pp. 479-83
Science, 340, 479-83
Science, 340(6131), 479-483. American Association for the Advancement of Scienceمصطلحات موضوعية: Male, Glycosylation, Proteome, Haploidy, medicine.disease_cause, chemistry.chemical_compound, 0302 clinical medicine, Dystroglycans, Lassa fever, Genetics, 0303 health sciences, Mutation, Multidisciplinary, biology, Walker-Warburg Syndrome, Pedigree, 3. Good health, Host-Pathogen Interactions, Science & Technology - Other Topics, Female, lipids (amino acids, peptides, and proteins), musculoskeletal diseases, Glycan, DCN MP - Plasticity and memory, Molecular Sequence Data, Article, Cell Line, 03 medical and health sciences, Lassa Fever, medicine, Humans, Amino Acid Sequence, Pentosyltransferases, Lassa virus, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Infant, Membrane Proteins, Virus Internalization, Glycostation disorders [IGMD 4], medicine.disease, Virology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], carbohydrates (lipids), Membrane protein, chemistry, biology.protein, 030217 neurology & neurosurgery
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fc15f639a77bbb72c6f5a91cdb1e4e3Test
http://hdl.handle.net/11655/13894Test -
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المؤلفون: Derek L. Stemple, Gavin J. Wright, Jeroen van Reeuwijk, Ellen van Beusekom, Gareth T. Powell, Susan Blaser, Tony Roscioli, Hans van Bokhoven, Christa van den Elzen, Erik-Jan Kamsteeg, Moniek Riemersma, Yung-Yao Lin, Dirk Lefeber, Riyana Babul-Hirji, David Chitayat, William Halliday, Karen Buysse
المصدر: Human Molecular Genetics, 22, 1746-54
Human Molecular Genetics, 22, 9, pp. 1746-54
Human Molecular Geneticsمصطلحات موضوعية: Male, Glycosylation, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Missense mutation, Dystroglycans, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, biology, Homozygote, Chromosome Mapping, Walker-Warburg Syndrome, Articles, General Medicine, Pedigree, 3. Good health, Phenotype, Gene Knockdown Techniques, Congenital muscular dystrophy, Female, Protein Binding, DCN MP - Plasticity and memory, Mutation, Missense, N-Acetylglucosaminyltransferases, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, 03 medical and health sciences, Cell Line, Tumor, medicine, Animals, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Walker–Warburg syndrome, DCN NN - Brain networks and neuronal communication, Molecular Biology, 030304 developmental biology, Infant, Glycostation disorders [IGMD 4], medicine.disease, biology.organism_classification, Fukutin, Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Gene Expression Regulation, Muscular Dystrophies, Limb-Girdle, chemistry, Genetics and epigenetic pathways of disease Renal disorder [NCMLS 6], Laminin, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678e8adfb7d596ec55dd5fd9dd0eae40Test
http://hdl.handle.net/2066/118809Test