المؤلفون: Andrew D. Randall, Julia M. Vlachaki Walker, Craig Beall, Josephine L. Robb, John K. Chilton, Paul G. Weightman Potter, Kate L. J. Ellacott, Ritchie Williamson

المصدر: Diabetologia

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Glucose uptake, Immunoblotting, 030209 endocrinology & metabolism, Mitochondrion, AMP-Activated Protein Kinases, Cell morphology, Article, Cell Line, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, AMP-activated protein kinase, Internal medicine, Glia, Internal Medicine, medicine, Humans, Beta oxidation, Cells, Cultured, biology, Glycogen, Chemistry, Diabetes, Fatty Acids, Metabolism, Low glucose, Lipid Metabolism, Hypoglycemia, Mitochondria, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Glucose, Mitochondrial metabolism, Fatty acid oxidation, Astrocytes, biology.protein, Lactate, Astrocyte, Hypoglycaemia, Oxidation-Reduction, Adenosine triphosphate

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9f515f41de860cc60f7c877fd70409Test
http://europepmc.org/articles/PMC6290858Test

المؤلفون: Paul G. Weightman Potter, Kate L. J. Ellacott, John K. Chilton, Josephine L. Robb, Nadia A. Hammad, Craig Beall

المصدر: GliaREFERENCES. 68(11)

مصطلحات موضوعية: 0301 basic medicine, Lipopolysaccharides, Lipopolysaccharide, medicine.medical_treatment, Inflammation, Oxidative phosphorylation, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Mice, 0302 clinical medicine, medicine, Animals, Glycolysis, Glucose transporter, NF-kappa B, Cell biology, I-kappa B Kinase, 030104 developmental biology, medicine.anatomical_structure, Cytokine, Neurology, chemistry, Astrocytes, Phosphorylation, Cytokines, medicine.symptom, 030217 neurology & neurosurgery, Astrocyte, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31e311e70b78ea907571da5a60deda1Test
https://pubmed.ncbi.nlm.nih.gov/32277522Test

المؤلفون: Camilla B. Mitchell, Holly Hardy, Lisa Foa, John K. Chilton, Kaylene M. Young, Adrian C. Thompson, Robert Gasperini, Macarena Pavez

المصدر: Molecular and Cellular Neuroscience. 84:29-35

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Growth Cones, Motility, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cell Movement, medicine, Biological neural network, Animals, Humans, Growth cone, Molecular Biology, Cytoskeleton, Calcium signaling, Voltage-dependent calcium channel, Cell Biology, Axons, Sensory neuron, Axon Guidance, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Calcium, Axon guidance, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e52d3b38ef200630f0b2052ca8006604Test
https://doi.org/10.1016/j.mcn.2017.07.006Test

المؤلفون: John K. Chilton, Sarah Guthrie

المصدر: Developmental Neurobiology. 77:861-875

مصطلحات موضوعية: 0301 basic medicine, Cranial nerves, Gene regulatory network, Biology, Ocular Motility Disorders, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Developmental Neuroscience, MAFB, SALL4, Axon guidance, Brainstem, Neuroscience, Transcription factor, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f84848a6c126b4ba3f56a7b5a259a5c4Test
https://doi.org/10.1002/dneu.22477Test

المؤلفون: Mojtaba Jaafarinia, Mohammadreza Dehghani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, John K. Chilton, Seyed Mehdi Kalantar

المصدر: Molecular Syndromology. 8:261-265

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Bilateral facial palsy, Candidate gene, Palsy, business.industry, media_common.quotation_subject, Nonsense, 030105 genetics & heredity, medicine.disease, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, symbols, Medicine, Missense mutation, Sensorineural hearing loss, business, 030217 neurology & neurosurgery, Genetics (clinical), media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae7595cf1fdb35cca6fde4f413de91f7Test
https://doi.org/10.1159/000477752Test

المؤلفون: Michel Michaelides, Sheikh Riazuddin, Yan Ma, Lin Li, Muhammad Ali, Muhammad Imran Khan, Ralph Nelson, Ahmed Salman, S. Amer Riazuddin, J. Fielding Hejtmancik, Siying Lin, Andrew H. Crosby, Zeynep Coban Akdemir, Longhua Zhang, James Fasham, Gavin Arno, Abdul Hameed, Chi-Chao Chan, Paul A. Sieving, Raheel Qamar, Sarah Hull, Muhammad Asif Naeem, John K. Chilton, Frans P.M. Cremers, Shalini N. Jhangiani, Xiaodong Jiao, Firoz Kabir, Barry A. Chioza, Ilaria D'Atri, James R. Lupski, Zhiwei Ma, Radha Ayyagari, Fumihito Ono, Naoki Nakaya, Xiaoying Cai, Gaurav V. Harlalka, Jay E. Self, Emma L. Baple, Javed Akram, Anthony T. Moore, Holly Hardy

المساهمون: Mundlos, Stefan

المصدر: PLoS genetics, vol 14, iss 8
Plos Genetics, 14,
PLoS Genetics, Vol 14, Iss 8, p e1007504 (2018)
Plos Genetics, 14, 8, pp.

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cytoplasm, genetic structures, Neurodegenerative, Eye, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], chemistry.chemical_compound, Mice, 0302 clinical medicine, Retinal Rod Photoreceptor Cells, 2.1 Biological and endogenous factors, Pakistan, Aetiology, Zebrafish, Genetics (clinical), Mice, Knockout, biology, Homozygote, medicine.anatomical_structure, Chloride channel, Retinal Cone Photoreceptor Cells, Erg, Intracellular, Retinitis Pigmentosa, Asian Continental Ancestry Group, lcsh:QH426-470, Knockout, Mutation, Missense, Retina, Cell Line, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Rare Diseases, Asian People, Chloride Channels, medicine, Genetics, Animals, Humans, Eye Proteins, Molecular Biology, Eye Disease and Disorders of Vision, Ecology, Evolution, Behavior and Systematics, CLCC1, Wild type, Neurosciences, Retinal, biology.organism_classification, Molecular biology, eye diseases, lcsh:Genetics, 030104 developmental biology, HEK293 Cells, chemistry, Mutation, biology.protein, sense organs, Missense, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc7f1d4a7b6241a6422d77b5a1a8d113Test
https://escholarship.org/uc/item/0ps3f4k7Test

المؤلفون: Andrea Ketschek, Xin-Peng Dun, Holly Hardy, Mirela Spillane, Gianluca Gallo, John K. Chilton

المصدر: Developmental Neurobiology. 76:1092-1110

مصطلحات موضوعية: 0301 basic medicine, animal structures, Sensory Receptor Cells, Blotting, Western, Chick Embryo, macromolecular substances, Biology, Microtubules, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Developmental Neuroscience, Microtubule, Live cell imaging, Ganglia, Spinal, Nerve Growth Factor, Myosin, Animals, Pseudopodia, Cytoskeleton, Cells, Cultured, Actin, Neuropeptides, Immunohistochemistry, Actins, Axons, Cell biology, Electroporation, 030104 developmental biology, Nerve growth factor, Microscopy, Fluorescence, nervous system, Filopodia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b654b99a4de4d4f1553292da80c12923Test
https://doi.org/10.1002/dneu.22377Test

المؤلفون: Muhammad Asif Naeem, Siying Lin, Emma L. Baple, John K. Chilton, Muhammad Ali, Barry A. Chioza, Abdul Hameed, Xiaodong Jiao, Firoz Kabir, Lin Li, Zhiwei Ma, Zeynep Coban Akdemir, James R. Lupski, Michel Michaelides, Yan Ma, Paul A. Sieving, Longhua Zhang, Radha Ayyagari, Raheel Qamar, Sheikh Riazuddin, Andrew H. Crosby, Jay E. Self, Anthony T. Moore, Javed Akram, Naoki Nakaya, S. Amer Riazuddin, Ralph Nelson, Xiaoying Cai, J. Fielding Hejtmancik, Muhammad Imran Khan, Chi-Chao Chan, Frans P.M. Cremers, Gavin Arno, Ahmed Salman, Ilaria D'Atri, Sarah Hull, Gaurav V. Harlalka, James Fasham, Holly Hardy, Shalini N. Jhangiani, Fumihito Ono

المساهمون: Mundlos, Stefan

المصدر: oai:escholarship.org/ark:/13030/qt0ps3f4k7 ; oai:eprints.soton.ac.uk:423516 ; 10.1371/journal.pgen.1007504 ; 30157172 ; 2888792732 ; oai:doaj.org/article:baf42b0095e24ebeabdac8b3ae0ecd02 ; 10|opendoar____::89f0fd5c927d466d6ec9a21b9ac34ffa ; 10|opendoar____::01386bd6d8e091c2ab4c7c7de644d37b ; 10|openaire____::9e3be59865b2c1c335d32dae2fe7b254 ; 10|openaire____::55045bd2a65019fd8e6741a755395c8c ; openaire____::1256f046-bf1f-4afc-8b47-d0b147148b18 ; 10|openaire____::081b82f96300b6a6e3d282bad31cb6e2 ; 10|doajarticles::774f410ded35c2e3136dc96dd7e77480 ; 10|openaire____::8ac8380272269217cb09a928c8caa993 ; 10|openaire____::5f532a3fc4f1ea403f37070f59a7a53a ; 10|driver______::bee53aa31dc2cbb538c10c2b65fa5824 ; 10|opendoar____::8b6dd7db9af49e67306feb59a8bdc52c ; 10|openaire____::806360c771262b4d6770e7cdf04b5c5a

مصطلحات موضوعية: Retina, Cell Line, Cytoplasm, Animals, Mice, Knockout, Zebrafish, Humans, Retinitis Pigmentosa, Chloride Channels, Eye Proteins, Homozygote, Mutation, Missense, Asian Continental Ancestry Group, Pakistan, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, HEK293 Cells, Genetics, Developmental Biology, Genetics(clinical), Cancer Research, Ecology, Evolution, Behavior and Systematics, Molecular Biology, art, stat

العلاقة: https://escholarship.org/uc/item/0ps3f4k7Test; https://eprints.soton.ac.uk/423516Test/; http://dx.doi.org/10.1371/journal.pgen.1007504Test; https://dx.doi.org/10.1371/journal.pgen.1007504Test; http://dx.plos.org/10.1371/journal.pgen.1007504Test; https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1007504&type=printableTest; https://www.ncbi.nlm.nih.gov/pubmed/30157172Test; https://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1007504Test; https://repository.ubn.ru.nl/handle/2066/195279Test; https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F195279Test; https://dx.plos.org/10.1371/journal.pgen.1007504Test; https://ucdavis.pure.elsevier.com/en/publications/mutation-in-the-intracellular-chloride-channel-clcc1-associated-wTest; https://jhu.pure.elsevier.com/en/publications/mutation-in-the-intracellular-chloride-channel-clcc1-associated-wTest; http://discovery.ucl.ac.uk/10056583Test/; https://academic.microsoft.com/#/detail/2888792732Test; http://europepmc.org/articles/PMC6133373?pdf=renderTest

الإتاحة: https://doi.org/10.1371/journal.pgen.1007504Test
https://escholarship.org/uc/item/0ps3f4k7Test
https://eprints.soton.ac.uk/423516Test/
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1007504&type=printableTest
https://www.ncbi.nlm.nih.gov/pubmed/30157172Test
https://journals.plos.org/plosgenetics/article?id=10.1371%2Fjournal.pgen.1007504Test
https://repository.ubn.ru.nl/handle/2066/195279Test
https://www.narcis.nl/publication/RecordID/oai%3Arepository.ubn.ru.nl%3A2066%2F195279Test
https://ucdavis.pure.elsevier.com/en/publications/mutation-in-the-intracellular-chloride-channel-clcc1-associated-wTest
https://jhu.pure.elsevier.com/en/publications/mutation-in-the-intracellular-chloride-channel-clcc1-associated-wTest

المؤلفون: Andrew D. Randall, Julia M. Vlachaki Walker, Craig Beall, Josephine L. Robb, John K. Chilton, Kate L. J. Ellacott, Ritchie Williamson, Paul G. Weightman Potter

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogen, Glucose uptake, Metabolism, Mitochondrion, Hypoglycemia, medicine.disease, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, Basal (medicine), chemistry, Internal medicine, medicine, Beta oxidation, 030217 neurology & neurosurgery, 030304 developmental biology, Astrocyte

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab5304576310022982944c6a16b8a48Test
https://doi.org/10.1101/271981Test

المؤلفون: Vafa, Alakbarzade, Thomas, Iype, Barry A, Chioza, Royana, Singh, Gaurav V, Harlalka, Holly, Hardy, Ajith, Sreekantan-Nair, Christos, Proukakis, Kathryn, Peall, Lorraine N, Clark, Richard, Caswell, Hana, Lango Allen, Matthew, Wakeling, John K, Chilton, Emma L, Baple, Elan D, Louis, Thomas T, Warner, Andrew H, Crosby

المصدر: Neurology: Genetics

مصطلحات موضوعية: Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::8977640ffcad4fb5d3b04d6b57282319Test
https://pubmed.ncbi.nlm.nih.gov/30842974Test