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المؤلفون: Marta Iruarrizaga-Lejarreta, Mikel Azkargorta, Patricia Aspichueta, Nuria Macias-Camara, Lucy Carty, Megan Griffith, Marta Varela-Rey, Rhona Mirsky, Virginia Gutiérrez-de Juan, Igor Aurrekoetxea, Ana M. Aransay, Ashwin Woodhoo, Jose A. Gomez-Sanchez, Janina Hantke, Marta Palomo-Irigoyen, Kristjan R. Jessen, José M. Mato, María L. Martínez-Chantar, Frank Baas, Harold B.J. Jefferies, Felix Elortza
المساهمون: ANS - Amsterdam Neuroscience, Genome Analysis
المصدر: Journal of cell biology, 210(1), 153-168. Rockefeller University Press
مصطلحات موضوعية: 0303 health sciences, Wallerian degeneration, Autophagy, Central nervous system, Schwann cell, Cell Biology, Biology, Nerve injury, medicine.disease, Neuroregeneration, 3. Good health, Cell biology, 03 medical and health sciences, Myelin, 0302 clinical medicine, medicine.anatomical_structure, nervous system, Immunology, medicine, Demyelinating disease, medicine.symptom, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56df35604051afc6392d6a0a0309dc6bTest
https://doi.org/10.1083/jcb.201503019Test -
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المؤلفون: Kristjan R. Jessen, Janina Hantke, Peter Arthur-Farraj, David Parkinson, Catherine M. Davis, Rhona Mirsky, Katharina Wanek, Anuj Jayakar
المصدر: Glia. 59:720-733
مصطلحات موضوعية: Neuregulin-1, medicine.medical_treatment, Blotting, Western, CREB, Article, Rats, Sprague-Dawley, Mice, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Myelin, mental disorders, Cyclic AMP, medicine, Animals, Cyclic adenosine monophosphate, CAMP response element binding, Cells, Cultured, In Situ Hybridization, Myelin Sheath, Analysis of Variance, biology, Reverse Transcriptase Polymerase Chain Reaction, Growth factor, Immunohistochemistry, Sciatic Nerve, Molecular biology, Rats, medicine.anatomical_structure, nervous system, Neurology, chemistry, biology.protein, Neuregulin, cAMP-dependent pathway, Schwann Cells, Signal transduction, Myelin P0 Protein, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee42259ecf7914441267dd793688b65Test
https://doi.org/10.1002/glia.21144Test -
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المؤلفون: Robert J. Harvey, Rita Shiang, C. L. Hammond, Colin Ferrie, Michael Freilinger, Janina Hantke, Eva Andermann, Mark I. Rees, Monique M. Ryan, Rhys H. Thomas, Seo-Kyung Chung, Jonathan G. L. Mullins, Candan Gürses, Angela Robinson, Frederick Andermann, John Christodoulou, Kirsten Harvey, Joseph W. Lynch, Jean-Francois Vanbellinghen, Michael C. Kruer, Amira Masri, Daniel Gilbert
المساهمون: Molecular Biophysics
المصدر: The Journal of Neuroscience, 30(28), 9612-9620. Oxford University Press
مصطلحات موضوعية: Male, INHIBITORY GLYCINE RECEPTOR, Reflex, Startle, Mutant, Biology, Transfection, Compound heterozygosity, Cell Line, ACETYLCHOLINE-RECEPTOR, Glycine transporter, Receptors, Glycine, COMPOUND HETEROZYGOSITY, Muscle Hypertonia, BINDING, medicine, Humans, Homomeric, Hyperekplexia, BETA-SUBUNIT, Glycine receptor, Gene, Genetics, Reflex, Abnormal, General Neuroscience, CHLORIDE CHANNELS, ALPHA-1 SUBUNIT, Genetic Variation, Articles, MASS-SPECTROMETRY, Phenotype, TRANSMEMBRANE DOMAIN, STARTLE DISEASE, Mutation, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c652306b17f5550da536cb1f53c27719Test
https://doi.org/10.1523/JNEUROSCI.1763-10.2010Test -
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المؤلفون: Frank Baas, Marcel S G Kwa, Radka Kaneva, David Chandler, Elyshia McNamara, Velina Guergueltcheva, Ronald J.A. Wanders, Janina Hantke, Luba Kalaydjieva, Rosalind H.M. King, Ivailo Tournev, Dora Angelicheva
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience, Neurology, Genome Analysis
المصدر: European journal of human genetics, 17(12), 1606-1614. Nature Publishing Group
مصطلحات موضوعية: Population, Biology, medicine.disease_cause, Article, Mice, Exon, Hexokinase, Translational regulation, Genetics, medicine, Animals, Humans, Nervous System Physiological Phenomena, Peripheral Nerves, education, Gene, Genetics (clinical), education.field_of_study, Mutation, Alternative splicing, Intron, Exons, Physical Chromosome Mapping, medicine.disease, Immunohistochemistry, Molecular biology, Alternative Splicing, Protein Biosynthesis, 5' Untranslated Regions, Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc8055d8a58a859d2a4cf7d093c926Test
https://doi.org/10.1038/ejhg.2009.99Test -
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المؤلفون: Zhe Yang, Robert J. Harvey, Brett A. Cromer, Janina Hantke, Xuebin Chen, Timothy I. Webb, Joseph W. Lynch, Michael W. Parker
المصدر: Neuropharmacology. 56:318-327
مصطلحات موضوعية: Models, Molecular, Dihydropyridines, endocrine system, Patch-Clamp Techniques, Sesterterpenes, Molecular Sequence Data, Nicardipine, DHPS, Pharmacology, Inhibitory postsynaptic potential, Biophysical Phenomena, Membrane Potentials, GABA Antagonists, Structure-Activity Relationship, Cellular and Molecular Neuroscience, Receptors, Glycine, Nifedipine, medicine, Humans, Picrotoxin, Amino Acid Sequence, Binding site, Glycine receptor, Cell Line, Transformed, Analysis of Variance, Binding Sites, Dose-Response Relationship, Drug, Chemistry, Dihydropyridine, Calcium Channel Blockers, Electric Stimulation, Protein Subunits, Glycine, Mutagenesis, Site-Directed, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9df36874d6bcf6f2320bcaf19feae88Test
https://doi.org/10.1016/j.neuropharm.2008.07.001Test -
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المؤلفون: Sonja Bouwer, Djako Khuyomdziev, Pavel Seeman, Margarita Raicheva, Silvia Cherninkova, Radka Tincheva, Ivailo Tournev, Jaume Bertranpetit, Luba Kalaydjieva, Ivanka Sinigerska, David Chandler, Janina Hantke, Ivo Kremensky, V. Mihaylova, Dora Angelicheva
المصدر: Brain. 130:1050-1061
مصطلحات موضوعية: Adult, Male, Ataxia, Adolescent, Genotype, Population, Biology, medicine.disease_cause, Central Nervous System Diseases, medicine, Humans, Macula Lutea, Age of Onset, Fluorescein Angiography, Child, education, Family Health, Niemann-Pick Diseases, Genetics, Mutation, education.field_of_study, Base Sequence, Mental Disorders, Infant, Peripheral Nervous System Diseases, Electroencephalography, Enzyme replacement therapy, medicine.disease, Phenotype, Sphingomyelin Phosphodiesterase, Child, Preschool, Female, Sphingomyelin phosphodiesterase 1, Allelic heterogeneity, Neurology (clinical), medicine.symptom, Acid sphingomyelinase, Cognition Disorders, Niemann–Pick disease, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59fd73039072da80d47998f169ac395Test
https://doi.org/10.1093/brain/awm026Test -
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المؤلفون: Laura J. Wagstaff, Kristjan R. Jessen, Mark Turmaine, D Wilton, Martin Koltzenburg, Lucy Carty, Frank Baas, Rhona Mirsky, Susanne Quintes, Janina Hantke
المساهمون: ANS - Amsterdam Neuroscience, Genome Analysis
المصدر: Brain, 137(Part 11), 2922-2937. Oxford University Press
مصطلحات موضوعية: Genetically modified mouse, Proto-Oncogene Proteins c-jun, Axonal loss, Schwann cell, Biology, Mice, Downregulation and upregulation, Charcot-Marie-Tooth Disease, medicine, Demyelinating disease, Animals, Axon, Mice, Knockout, Motor Neurons, Mice, Inbred C3H, Behavior, Animal, c-jun, Original Articles, medicine.disease, Axons, Disease Models, Animal, medicine.anatomical_structure, nervous system, Neurology (clinical), Schwann Cells, Neuron death, Neuroscience, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9104469cda6b71f0b41d92162e995fcTest
https://pubmed.ncbi.nlm.nih.gov/25216747Test -
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المؤلفون: Ute Lechner, Jan Gerritse, Birgit Werner, Michael Bunge, Hendrik Ballerstedt, Janina Hantke, Jan R. Andreesen
المصدر: FEMS Microbiology Ecology. 47:223-234
مصطلحات موضوعية: Deltaproteobacteria, Tetrachloroethylene, Polychlorinated Dibenzodioxins, Molecular Sequence Data, Desulfuromonas, Chlorobenzenes, Applied Microbiology and Biotechnology, Microbiology, Bacteria, Anaerobic, Acetobacterium, Most probable number, RNA, Ribosomal, 16S, Reductive dechlorination, Sulfate-reducing bacteria, Desulfitobacterium, Dehalococcoides, Ecology, biology, Chloroflexi, Sequence Analysis, DNA, biology.organism_classification, Biochemistry, Peptococcaceae, Chlorine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94f4aa7e966d2f29fda3e433a711dc0Test
https://doi.org/10.1016/s0168-6496Test(03)00282-4 -
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المؤلفون: Tina Schiavello, Bernd Dworniczak, Arseni Markoff, Luba Kalaydjieva, Janina Hantke, Nadja Bogdanova, Juergen Horst, Michael Hunter, Mark Thomas, Dora Angelicheva, Marie McCluskey
المصدر: Human Mutation. 19:240-250
مصطلحات موضوعية: Threonine, TRPP Cation Channels, Genetic Linkage, Glutamine, Pseudogene, DNA Mutational Analysis, Molecular Sequence Data, Autosomal dominant polycystic kidney disease, Biology, medicine.disease_cause, Mice, Methionine, Gene Duplication, Gene duplication, Genetics, medicine, Polycystic kidney disease, Animals, Humans, Missense mutation, Amino Acid Sequence, Gene, Genetics (clinical), Polycystic Kidney Diseases, Mutation, PKD1, Australia, Proteins, Polycystic Kidney, Autosomal Dominant, medicine.disease, Molecular biology, Amino Acid Substitution, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b704bcf87bcfccc8d05ae9e20fb96dTest
https://doi.org/10.1002/humu.10045Test -
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المؤلفون: Constantin Lupu, Janina Hantke, Ivailo Tournev, Tamara Rogers, Velina Guergueltcheva, Jaume Colomer, Jon Andoni Urtizberea, Axinia Corches, Luba Kalaydjieva, Lisa French, Luciano Merlini, P. K. Thomas
المصدر: Neuromuscular disorders : NMD. 13(9)
مصطلحات موضوعية: Male, Candidate gene, Genetic Linkage, Biology, Bac clone, Charcot-Marie-Tooth Disease, Databases, Genetic, medicine, Humans, Gene, Genotyping, Genetics (clinical), Sequence (medicine), Genetics, Polymorphism, Genetic, Chromosomes, Human, Pair 10, Chromosome Mapping, medicine.disease, Pedigree, Europe, Phenotype, Neurology, Genetic marker, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Hereditary motor and sensory neuropathy, Hereditary Sensory and Motor Neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::932c47d3fee0300e48bd16843d526320Test
https://pubmed.ncbi.nlm.nih.gov/14561496Test