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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c652306b17f5550da536cb1f53c27719
https://doi.org/10.1523/JNEUROSCI.1763-10.2010

المؤلفون: Stephanie Matta, Jubran E. Rahme, Hanna Mandel, Emma Hobson, Zaid Afawi, Gail E. Graham, Amanda Krause, Anna Bode, Grace Vassallo, Sian-Elin Wood, Amira Masri, Samuel F. Berkovic, Sharon Aharoni, Orwain W. Howell, Cheney Drew, Vivek Jain, Alfred Peter Born, William O. Pickrell, Michael Freilinger, Jonathon G.L. Mullins, Elie G. Karam, Sue Chatfield, Jean-Francois Vanbellinghen, Gerald Bannasch, Marius Bartsch, Elizabeth Jones, Fusun Alehan, Thomas D. Cushion, Mark I. Rees, Joseph W. Lynch, Catherine Vincent-Delorme, Angelo Keramidas, Rhys H. Thomas, Seo-Kyung Chung, Bülent Kara

مصطلحات موضوعية: Male, Protein subunit, Mutation, Missense, Biology, Biochemistry, Protein Structure, Secondary, Receptors, Glycine, medicine, Humans, Hyperekplexia, Receptor, Molecular Biology, Glycine receptor, Ion channel, Genetics, Wild type, Molecular Bases of Disease, Cell Biology, Muscle Rigidity, Protein Structure, Tertiary, Amino Acid Substitution, Gene Expression Regulation, Female, medicine.symptom, Ion channel linked receptors, Cys-loop receptors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9d2d6fe988488fecbf57900d9ab98aa
https://europepmc.org/articles/PMC3837119/

المؤلفون: Cheney Drew, Jean-Francois Vanbellinghen, C. L. Hammond, Thomas D. Cushion, Jonathan G. L. Mullins, Rhys H. Thomas, Mark I. Rees, Seo-Kyung Chung, Sian E. Wood

مصطلحات موضوعية: Adult, Male, Adolescent, Population, Bioinformatics, medicine.disease_cause, Young Adult, Receptors, Glycine, Genotype, medicine, Humans, Learning, Genetic Predisposition to Disease, Language Development Disorders, Hyperekplexia, education, Glycine receptor, Genetic Association Studies, Genetic testing, Retrospective Studies, education.field_of_study, Mutation, Epilepsy, medicine.diagnostic_test, biology, Reflex, Abnormal, Genetic Diseases, X-Linked, Phenotype, Speech delay, Glycine transporter 2, biology.protein, Female, Neurology (clinical), medicine.symptom, Psychology, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a99955c6b3242fede636819a6fb8746c
https://cronfa.swan.ac.uk/Record/cronfa16195

المؤلفون: Adnan Y. Manzur, Kate Sinclair, Mireria Del Toro, Serge Rivera, Jean-Francois Vanbellinghen, Eloisa Carta, Jennifer Gill, Victoria M. James, Catriona A. Stuart, Grahame Wise, Rita Shiang, Stéphane Supplisson, Duncan Cameron, Marina A. J. Tijssen, Kirsten Harvey, Cheney Drew, Frances M. Cowan, Sameer M. Zuberi, Rhys H. Thomas, Mark I. Rees, Seo-Kyung Chung, Brian Pearce, Angela Robinson, Robert J. Harvey, Amira Masri, Nathalie Remy, Sophie Cagdas, Gail E. Graham, Emmanuel Scalais, Maya Topf

المصدر: The Journal of Biological Chemistry, 287(34), 28975-28985. AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC

مصطلحات موضوعية: Male, Heterozygote, DNA Mutational Analysis, Glycine, PROTEIN, Nerve Tissue Proteins, Biology, medicine.disease_cause, Compound heterozygosity, Biochemistry, Frameshift mutation, Glycine transporter, Xenopus laevis, HYPEREKPLEXIA, Receptors, Glycine, Glycine Plasma Membrane Transport Proteins, medicine, Animals, Humans, Missense mutation, Hyperekplexia, Molecular Biology, NEURONS, Genetics, Mutation, Ion Transport, Hereditary hyperekplexia, Glycine transport, Homozygote, Genetic Diseases, Inborn, DEATH, Molecular Bases of Disease, Neurodegenerative Diseases, Cell Biology, Molecular biology, GLYCINE RECEPTOR, Protein Structure, Tertiary, BINDING-SITE, MICE, DOMINANT, SUBUNIT, NEUROTRANSMITTER TRANSPORTERS, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0e4a3ba1974226fee491957e9ea7d1
https://research.rug.nl/en/publications/d4e64b4e-8d8c-451d-9f2a-858103c78a15

المؤلفون: M Nicloux, Claude Lardeux, Jean-François Magny, Monika Eisermann, Alexandre Lapillonne, Nadia Bahi-Buisson, Anna Kaminska, Jean-Francois Vanbellinghen

المصدر: The Journal of Pediatrics. 164:664-664.e1

مصطلحات موضوعية: Male, Myoclonus, medicine.medical_specialty, Epilepsy, business.industry, Infant, Newborn, Electroencephalography, Exons, Stiff-Person Syndrome, medicine.disease, Myoclonic jerking, Clonazepam, Diagnosis, Differential, Consanguinity, Receptors, Glycine, Physical medicine and rehabilitation, Pediatrics, Perinatology and Child Health, Humans, Medicine, Anticonvulsants, business, Gene Deletion, Tonic posturing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25a97afe68952e5a01349cdba1b457f8
https://doi.org/10.1016/j.jpeds.2013.10.073

المؤلفون: Jennifer L. Gill, Kate L. Tsai, Christa Krey, Rooksana E. Noorai, Jean-François Vanbellinghen, Laurent S. Garosi, G. Diane Shelton, Leigh Anne Clark, Robert J. Harvey

المصدر: Neurobiology of Disease, Vol 45, Iss 1, Pp 130-136 (2012)

مصطلحات موضوعية: Brevican, BCAN, Episodic falling syndrome, Cavalier King Charles spaniels, Microdeletion, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996111002506; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/0462bd92406f44189b1a63e42b206f75

المؤلفون: Jennifer L. Gill, Deborah Capper, Jean-François Vanbellinghen, Seo-Kyung Chung, Robert J. Higgins, Mark I. Rees, G. Diane Shelton, Robert J. Harvey

المصدر: Neurobiology of Disease, Vol 43, Iss 1, Pp 184-189 (2011)

مصطلحات موضوعية: Glycine transporter, GlyT2, Hyperekplexia, Irish wolfhound, SLC6A5, Startle disease, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996111000921; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/c16991afaaf14653899414c8d0f2eef6

المؤلفون: Emilie Castermans, Muriel Hannon, Jacques Dutrieux, Stéphanie Humblet-Baron, Laurence Seidel, Rémi Cheynier, Evelyne Willems, André Gothot, Jean-François Vanbellinghen, Vincent Geenen, Brenda M. Sandmaier, Rainer Storb, Yves Beguin, Frédéric Baron

المصدر: Haematologica, Vol 96, Iss 2 (2011)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/5879; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/7f62437f09c74fc5ab29af62d287f66e