المؤلفون: Renske I Wadman, Marloes Stam, Marc D Jansen, Yana van der Weegen, Camiel A Wijngaarde, Oliver Harschnitz, Peter Sodaar, Kees P J Braun, Dennis Dooijes, Henny H Lemmink, Leonard H van den Berg, W Ludo van der Pol

المصدر: PLoS ONE, Vol 11, Iss 11, p e0167087 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5125671?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/e99f54abe7b64ae79f3fd84102bb4fb4Test

المؤلفون: Jelena Medic, Camiel A. Wijngaarde, Henny H. Lemmink, Marc D. Jansen, Raymon Vijzelaar, Peter Sodaar, Leonard H. van den Berg, W. Ludo van der Pol, Renske I. Wadman, Chantall A.D. Curial, Marloes Stam, Ewout J N Groen, Jan S. A. G. Schouten

المصدر: Brain Communications
Brain Communications, 2(2):fcaa075. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Population, Locus (genetics), SMN1, Biology, PHENOTYPE, Gene dosage, CODON, Structural variation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, III SMA, Copy-number variation, SMA, education, spinal muscular atrophy, Sanger sequencing, Genetics, education.field_of_study, IDENTIFICATION, AcademicSubjects/SCI01870, General Engineering, Spinal muscular atrophy, SURVIVAL MOTOR-NEURON, NATURAL-HISTORY, medicine.disease, GENE, nervous system diseases, DELETIONS, 030104 developmental biology, COPY NUMBER, DISEASE SEVERITY, symbols, Original Article, AcademicSubjects/MED00310, 030217 neurology & neurosurgery, SMN2

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e001154906794f91c5b91d3a32cb061bTest
https://doi.org/10.1093/braincomms/fcaa075Test

المؤلفون: Max Koppers, Jeroen den Hertog, Dianne M.A. van den Heuvel, Stefano Dini Modigliani, R. Jeroen Pasterkamp, Eleonora Aronica, Jasper J. Anink, Anne Snelting, Anna M. Blokhuis, Irene Bozzoni, Leonard H. van den Berg, Femke van Diggelen, Jeroen Demmers, Ewout J N Groen, Katsumi Fumoto, Bert M. Verheijen, Peter Sodaar, Jan H. Veldink

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research, Cellular and Computational Neuroscience (SILS, FNWI), SILS Other Research (FNWI), Brain and Cognition, Biochemistry, ANS - Cellular & Molecular Mechanisms, Pathology, APH - Amsterdam Public Health

المصدر: Acta Neuropathologica. Springer Verlag GmbH
Acta Neuropathologica
Acta Neuropathologica, 132(2), 175-196. Springer Verlag
Acta Neuropathologica, 132(2), 175–196. Springer Verlag
Acta Neuropathologica, 132(2), 175-196. Springer-Verlag
Acta neuropathologica, 132(2), 175-196. Springer Verlag

مصطلحات موضوعية: 0301 basic medicine, Motor neuron, TDP-43, Autophagy-Related Proteins, Cell Cycle Proteins, UBQLN2, Fragile X Mental Retardation Protein, 0302 clinical medicine, C9orf72, Guanine Nucleotide Exchange Factors, Amyotrophic lateral sclerosis, Ataxin-2, Genetics, Motor Neurons, Neurons, biology, Transport protein, Cell biology, Mitochondria, DNA-Binding Proteins, FMRP, Clinical Neurology, Protein degradation, Protein–protein interaction, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, medicine, Journal Article, Animals, Comparative Study, Eye Proteins, Adaptor Proteins, Signal Transducing, FUS, Original Paper, C9orf72 Protein, Membrane Transport Proteins, Neurology (clinical), 2734, medicine.disease, Mice, Inbred C57BL, Adaptor Proteins, Vesicular Transport, Disease Models, Animal, 030104 developmental biology, biology.protein, RNA-Binding Protein FUS, Mutant Proteins, 030217 neurology & neurosurgery

وصف الملف: application/pdf; image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed0db96ed3b96d3c9b2245a0badd8bcTest
https://doi.org/10.1007/s00401-016-1575-8Test

المؤلفون: Jelena Medic, Camiel A. Wijngaarde, Ewout J N Groen, Joyce van Kuik, W. Ludo van der Pol, Leonard H. van den Berg, Peter Sodaar, Marc D. Jansen, Renske I. Wadman, Henny H. Lemmink, Jan H. Veldink, Marloes Stam, Chantall A.D. Curial, Manon M. H. Huibers, Wouter van Rheenen, Kristel R. van Eijk

المصدر: Neurology. Genetics, 6(1):386. LIPPINCOTT WILLIAMS & WILKINS
Neurology: Genetics

مصطلحات موضوعية: PLASTIN 3 EXPRESSION, 0301 basic medicine, Biology, Article, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, medicine, splice, Enhancer, SMN PROTEIN, Gene, Genetics (clinical), Sanger sequencing, Genetics, IDENTIFICATION, MUTATIONS, MOTOR-NEURON PROTEIN, Spinal muscular atrophy, medicine.disease, SMA, GENE, 030104 developmental biology, RNA splicing, symbols, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::729b1ef41437028810e76fb968874cc3Test
https://doi.org/10.1212/nxg.0000000000000386Test

المؤلفون: Peter Sodaar, Maria Stella Lombardi, Annemieke Kavelaars, Cobi Jacoba Johanna Heijnen, Freek L. Van Muiswinkel, Anne Vroon

المصدر: Journal of Neurochemistry. 102:731-740

مصطلحات موضوعية: medicine.medical_specialty, G protein-coupled receptor kinase, biology, Kinase, Beta adrenergic receptor kinase, Biochemistry, Wortmannin, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Endocrinology, chemistry, Internal medicine, MG132, medicine, biology.protein, Phosphorylation, Signal transduction, cGMP-dependent protein kinase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe903929f1b2b4125261ebf33c14e8d7Test
https://doi.org/10.1111/j.1471-4159.2007.04576.xTest

المؤلفون: Freek L. van Muiswinkel, Gerry T. Snoek, Dop P. R. Bär, Peter Sodaar, Hanneke Bunte, Karel W. A. Wirtz, Martijn Schenning

المصدر: Journal of Neurochemistry. 97:707-715

مصطلحات موضوعية: Programmed cell death, Neurodegeneration, Motor neuron, Biology, medicine.disease, Biochemistry, Neuroprotection, Cell biology, Cellular and Molecular Neuroscience, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Apoptosis, medicine, Phosphatidylinositol, Receptor, Phosphatidylinositol transfer protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d7bc038390085e945371cf994781b7daTest
https://doi.org/10.1111/j.1471-4159.2006.03729.xTest

المؤلفون: Leonard H. van den Berg, Ann Meester-Delver, Sanne Piepers, Renske I. Wadman, W-Ludo van der Pol, John H. J. Wokke, Peter Sodaar, Marc D. Jansen, Jan-Maarten Cobben, Henny H. Lemmink, Bwee Tien Poll-The

المساهمون: Faculteit der Geneeskunde, Amsterdam Neuroscience, Other Research, Human Genetics, Paediatric Genetics, Rehabilitation medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Neurology, Neurology

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, 82(8), 850-852. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 82(8), 850-852. BMJ Publishing Group
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 82(8), 850-852. BMJ PUBLISHING GROUP

مصطلحات موضوعية: Male, BLOOD, Adolescent, GABA Agents, INCREASES, Lymphocyte, animal diseases, LEVEL, Enzyme-Linked Immunosorbent Assay, Spinal Muscular Atrophies of Childhood, Biology, Peripheral blood mononuclear cell, STRENGTH, medicine, Humans, Child, Messenger RNA, Valproic Acid, Spinal muscular atrophy, NATURAL-HISTORY, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Molecular biology, nervous system diseases, Psychiatry and Mental health, Treatment Outcome, medicine.anatomical_structure, nervous system, Cell culture, Child, Preschool, DISEASE SEVERITY, CELLS, Leukocytes, Mononuclear, Female, Surgery, Neurology (clinical), Histone deacetylase, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7838997f0d294d275077791d53fe15faTest
https://hdl.handle.net/11245/1.364822Test

المؤلفون: Michael A, van Es, Jan H, Veldink, Helenius J, Schelhaas, Bastiaan R, Bloem, Peter, Sodaar, Bart F L, van Nuenen, Marcel, Verbeek, Bart P, van de Warrenburg, Leonard H, van den Berg

المصدر: Journal of neurology, neurosurgery, and psychiatry. 85(12)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Young Adult, Case-Control Studies, Amyotrophic Lateral Sclerosis, Humans, Female, Parkinson Disease, Ribonuclease, Pancreatic, Middle Aged, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::cfc3cf987692bec7b1469d9b55571791Test
https://pubmed.ncbi.nlm.nih.gov/24876190Test

المؤلفون: Peter Sodaar, H. Veldman, P. R. Dop Bär, E. C. A. Kaal, E.A.J. Joosten

المصدر: Journal of Neuroscience Research. 54:778-786

مصطلحات موضوعية: chemistry.chemical_classification, Reactive oxygen species, Antioxidant, biology, Superoxide, medicine.medical_treatment, fungi, SOD1, Pharmacology, medicine.disease_cause, Neuroprotection, Cellular and Molecular Neuroscience, chemistry.chemical_compound, nervous system, Biochemistry, chemistry, Catalase, Apoptosis, biology.protein, medicine, Oxidative stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::360887364f91656267b6290262270950Test
https://doi.org/10.1002Test/(sici)1097-4547(19981215)54:6<778::aid-jnr5>3.0.co;2-0

المؤلفون: H. Veldman, Peter R. Bär, H. B. van der Worp, E.A.J. Joosten, M. P. Tabor, G. Strous, Peter Sodaar

المصدر: Annals of the New York Academy of Sciences. 825:267-278

مصطلحات موضوعية: Free Radicals, Cell Survival, Chick Embryo, General Biochemistry, Genetics and Molecular Biology, In vitro model, Cyclic N-Oxides, Low glucose, Organ Culture Techniques, History and Philosophy of Science, Ganglia, Spinal, Neurites, medicine, Animals, Cell damage, Neurons, Chemistry, General Neuroscience, Hypoxia (medical), medicine.disease, Cell Hypoxia, Cell biology, Glucose, Neuroprotective Agents, Nitrogen Oxides, Spin Labels, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a629123b1e8f8ee8080393eb74d39f30Test
https://doi.org/10.1111/j.1749-6632.1997.tb48437.xTest