المؤلفون: Nigul Ilves, Silva Lõo, Norman Ilves, Rael Laugesaar, Dagmar Loorits, Pille Kool, Tiina Talvik, Pilvi Ilves

المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Perinatal stroke, Basal ganglia, Thalamus, MRI, Volumetrics, Motor outcome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/a06a43fdf19c4a2c829cfddf6ad891b2

المؤلفون: Anna-Carin Lundell, Malin Erlandsson, Maria Bokarewa, Hille Liivamägi, Karin Uibo, Sirje Tarraste, Tiina Rebane, Tiina Talvik, Chris Pruunsild, Rille Pullerits

المصدر: Journal of Immunology Research, Vol 2018 (2018)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2314-8861; https://doaj.org/toc/2314-7156

URL الوصول: https://doaj.org/article/e3b84dc6aca5407c80f076237f6f6352

المؤلفون: Nigul Ilves, Pilvi Ilves, Rael Laugesaar, Julius Juurmaa, Mairi Männamaa, Silva Lõo, Dagmar Loorits, Tiiu Tomberg, Anneli Kolk, Inga Talvik, Tiina Talvik

المصدر: Neural Plasticity, Vol 2016 (2016)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-5904; https://doaj.org/toc/1687-5443

URL الوصول: https://doaj.org/article/05f1af095bff4cadb6bbf464d39b8170

المؤلفون: Sara Zagaglia, Christina Selch, Jelena R. Nisevic, Davide Mei, Zuzanna Michalak, Laura Hernandez-Hernandez, S. Krithika, Katharina Vezyroglou, Sophia M. Varadkar, Alexander Pepler, Saskia Biskup, Miguel Leão, Jutta Gärtner, Andreas Merkenschlager, Michaela Jaksch, Rikke S. Møller, Elena Gardella, Britta S. Kristiansen, Lars K. Hansen, Maria S. Vari, Katherine L. Helbig, Sonal Desai, Constance L. Smith-Hicks, Naomi Hino-Fukuyo, Tiina Talvik, Rael Laugesaar, Pilvi Ilves, Katrin Õunap, Ingrid Körber, Till Hartlieb, Manfred Kudernatsch, Peter Winkler, Mareike Schimmel, Anette Hasse, Markus Knuf, Jan Heinemeyer, Christine Makowski, Sondhya Ghedia, Gopinath M. Subramanian, Pasquale Striano, Rhys H. Thomas, Caroline Micallef, Maria Thom, David J. Werring, Gerhard J. Kluger, J. Helen Cross, Renzo Guerrini, Simona Balestrini, Sanjay M. Sisodiya

مصطلحات موضوعية: Infarction, Epilepsy surgery, Partial seizures

Relation: 10779/aru.23779701.v1; https://figshare.com/articles/journal_contribution/Neurologic_phenotypes_associated_with_COL4A1_2_mutations/23779701

الاتاحة: https://figshare.com/articles/journal_contribution/Neurologic_phenotypes_associated_with_COL4A1_2_mutations/23779701

المؤلفون: Inga Talvik MD, PhD, Rikke S. Møller MSc, PhD, Merilin Vaher MD, Ulvi Vaher MD, Line HG Larsen MSc, Hans A. Dahl MSc, PhD, Pilvi Ilves MD, PhD, Tiina Talvik MD, PhD

المصدر: Child Neurology Open, Vol 2 (2015)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/2329048X15583717; https://doaj.org/toc/2329-048X; https://doaj.org/article/e3fe6d69a21c47dca474de6a7be2085a

الاتاحة: https://doi.org/10.1177/2329048X15583717
https://doaj.org/article/e3fe6d69a21c47dca474de6a7be2085a

المؤلفون: Batsal Devkota, José M. Serratosa, Joel N. Hirschhorn, Renzo Guerrini, Patrick May, Johanna A. Jähn, Paul Avillach, Yvonne G. Weber, Sha Tang, Kaja Kristine Selmer, Joseph J. Shen, Annika Rademacher, Joseph Peeden, Ulrich Stephani, Judson Kilbourn, Niklas Schwarz, Deb K. Pal, Lacey Smith, Trine Bjørg Hammer, Carla Marini, Deanne Taylor, Ingo Helbig, Rudi Balling, Arvid Suls, Holger Lerche, Karl Martin Klein, Simone Seiffert, Annapurna Poduri, Bobby P. C. Koeleman, Tania López-Hernández, Deepali N. Shinde, Stéphanie Baulac, Sawona Biswas, Eric LeGuern, Peter D. Galer, Volker Haucke, Katherine L. Helbig, Ian D. Krantz, Aarno Palotie, Sarah Weckhuysen, Nadja Hümpfer, Tiina Talvik, Rikke S. Møller, Roland Krause, Allison Heath, Dorota Hoffman-Zacharska, Nina Barišić, Peter De Jonghe, Hiltrud Muhle, In-Hee Lee, Kenneth D. Mandl, Felix Benninger, Dana Craiu, Florence T. Bourgeois, Colin A Ellis, Sanjay M. Sisodiya, Christel Depienne, Barbara Hallinan, Eric D. Marsh, Susanne Schubert-Bast, Manuela Pendziwiat, Kristen L. Sund, Federico Zara, Tracy A. Glauser, Katalin Štěrbová, Johannes R. Lemke, Oded Shor, Anna-Elina Lehesjoki, Helle Hjalgrim, Anna Bartels, Vladimir Komarek, Peter White, Tarja Linnankivi, Hande Caglayan, Sarah von Spiczak, Shiva Ganesan, Felix Rosenow, Sek Won Kong, Pasquale Striano

المساهمون: EuroEPINOMICS-RES Consortium, GRIN Consortium, Department of Medical and Clinical Genetics, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, Institute for Molecular Medicine Finland, HUS Children and Adolescents, Children's Hospital

المصدر: The American journal of human genetics
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe, P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001

مصطلحات موضوعية: 0301 basic medicine, PROTEIN, ILAE COMMISSION, clathrin-mediated endocytosis, 3124 Neurology and psychiatry, Mice, Epilepsy, 0302 clinical medicine, BINDING, Conditional gene knockout, Missense mutation, Child, Genetics (clinical), Mice, Knockout, Genetics, Brain Diseases, neurodevelopmental disorders, Phenotype, Endocytosis, Adaptor Protein Complex mu Subunits, Child, Preschool, Female, POSITION PAPER, RECRUITMENT, Adolescent, computational phenotypes, developmental and epileptic encephalopathy, Human Phenotype Ontology, synaptic transmission, Adaptor Protein Complex 2, Mutation, Missense, Biology, CLASSIFICATION, Article, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Synaptic vesicle recycling, ADAPTER AP-2, Generalized epilepsy, 3112 Neurosciences, Infant, Receptor-mediated endocytosis, medicine.disease, Clathrin, 030104 developmental biology, DE-NOVO MUTATIONS, 3111 Biomedicine, Human medicine, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41d721c4425c9ade86e75d2f4cf3565c
https://doi.org/10.1016/j.ajhg.2019.04.001

المؤلفون: Inga Talvik, Riina Vibo, Maarika Liik, Sulev Haldre, Tiina Talvik

المصدر: Medicina; Volume 48; Issue 7; Pages: 53

مصطلحات موضوعية: gelastic seizures, epileptic laughter, urinary incontinence

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/medicina48070053

الاتاحة: https://doi.org/10.3390/medicina48070053

المؤلفون: Mairi Männamaa, Silva Lõo, Rael Laugesaar, Leena Haataja, Pilvi Ilves, Inga Talvik, Tiiu Tomberg, Tiina Talvik, Anneli Kolk, Dagmar Loorits

المساهمون: Lastenneurologian yksikkö, Children's Hospital, Clinicum, University of Helsinki, HUS Children and Adolescents, HUS Neurocenter

المصدر: European Journal of Paediatric Neurology. 22:1006-1015

مصطلحات موضوعية: Male, PEDIATRIC STROKE, Pediatrics, Developmental Disabilities, CHILDHOOD, LANGUAGE, CHILDREN, Infant, Newborn, Diseases, 3124 Neurology and psychiatry, Cohort Studies, 0302 clinical medicine, Pregnancy, 3123 Gynaecology and paediatrics, Prospective Studies, PLASTICITY, Child, 10. No inequality, Stroke, Outcome, Kaufman Assessment Battery for Children, Cognition, Presumed perinatal stroke, General Medicine, Motor, Child, Preschool, Middle cerebral artery, Laterality, Cohort, Female, Arterial ischemic stroke, Brain Infarction, COGNITIVE OUTCOMES, medicine.medical_specialty, Cognitive, HEMIPLEGIC CEREBRAL-PALSY, 03 medical and health sciences, AGE, 030225 pediatrics, medicine.artery, medicine, Humans, Effects of sleep deprivation on cognitive performance, business.industry, Infant, Newborn, 3112 Neurosciences, Perinatal stroke, Venous infarction, medicine.disease, LIFE, Neonatal stroke, Pediatrics, Perinatology and Child Health, Neurodevelopmental, RISK-FACTORS, Periventricular venous infarction, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::970dbf514749a9d33b7411bb60a51856
https://doi.org/10.1016/j.ejpn.2018.07.005

المؤلفون: Tiina Talvik, Pilvi Ilves, Silva Lõo, Inga Talvik, Anneli Kolk, Dagmar Loorits, Ulvi Vaher, Rael Laugesaar, Eve Õiglane-Shlik, Mairi Männamaa

المساهمون: Lastenneurologian yksikkö, Clinicum, Children's Hospital, University of Helsinki, HUS Neurocenter

المصدر: Epilepsia Open

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Temporal lobe, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, 030225 pediatrics, Medicine, Neonatal intracerebral hemorrhage, Stroke, Neonatal stroke, business.industry, Full‐Length Original Research, Incidence (epidemiology), 3112 Neurosciences, Perinatal stroke, Presumed perinatal stroke, Odds ratio, medicine.disease, Poststroke epilepsy, Confidence interval, 3. Good health, Neurology, Epilepsy in children, 3121 General medicine, internal medicine and other clinical medicine, epilepsy, Periventricular venous infarction, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e62b8e018f0ab23b0ce6e093a6d01f8
https://doi.org/10.1002/epi4.12104

المؤلفون: Tiina Talvik, Koit Reimand, Kristi Alnek, Raivo Uibo, Oivi Uibo, Kadri Haller-Kikkatalo, Erik Orro, Kalle Kisand, Tiia Reimand

المصدر: Clinica Chimica Acta. 495:40-42

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Down syndrome, Clinical Biochemistry, Population, Peptides, Cyclic, Biochemistry, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Rheumatoid Factor, medicine, Humans, Rheumatoid factor, education, education.field_of_study, business.industry, Biochemistry (medical), Case-control study, Autoantibody, General Medicine, medicine.disease, 030104 developmental biology, Case-Control Studies, 030220 oncology & carcinogenesis, Rheumatoid arthritis, Immunology, Female, Down Syndrome, Trisomy, Chromosome 21, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ca5057f5d0de2faa9e98770a9dd53a3
https://doi.org/10.1016/j.cca.2019.03.1614

المؤلفون: Inga Talvik, Aleksandr Peet, Rael Laugesaar, Mare Lintrop, Tiina Talvik

المصدر: Medicina; Volume 46; Issue 9; Pages: 624

مصطلحات موضوعية: perinatal stroke, traumatic stroke

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/medicina46090088

الاتاحة: https://doi.org/10.3390/medicina46090088

المؤلفون: Neve Vendt, Heli Grünberg, Sirje Leedo, Vallo Tillmann, Tiina Talvik

المصدر: Medicina; Volume 43; Issue 12; Pages: 947

مصطلحات موضوعية: anemia, infant, iron deficiency, risk factors

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/medicina43120123

الاتاحة: https://doi.org/10.3390/medicina43120123

المؤلفون: Neve Vendt, Tiina Talvik, Pille Kool, Sirje Leedo, Karel Tomberg, Vallo Tillmann, Heli Grünberg

المصدر: Medicina; Volume 43; Issue 9; Pages: 698

مصطلحات موضوعية: infant, iron deficiency, ferritin, hemoglobin, mean cell volume

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/medicina43090090

الاتاحة: https://doi.org/10.3390/medicina43090090

المؤلفون: Tiina Talvik, Tiina Kahre, Elve Raukas

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.biotech.ebc.ee/Raukas_2006.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.518.8001; http://www.biotech.ebc.ee/Raukas_2006.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.518.8001
http://www.biotech.ebc.ee/Raukas_2006.pdf

المؤلفون: Sarah von Spiczak, Sabina Vejzovic, Nicolas Chatron, Laurence L Francois, Guido Rubboli, Julitta de Bellescize, Konstantin Mukhin, Holger Lerche, Marielle E M Swinkels, Johannes R. Lemke, Julia Jacobs, Susanne Blichfeldt, Hans Holthausen, Gaetan Lesca, Inga Talvik, Niels Tommerup, Heather C Mefford, Hiltrud Muhle, Tiina Talvik, Cornelia Betzler, Holly Dubbs, Line H.G. Larsen, Gerhard Kluger, Candace T. Myers, Renzo Guerrini, Steffen Syrbe, Yuan Mang, Marina Nikanorova, Sarah Hopkins, Ingo Helbig, Katrine M Johannesen, Snezana Maljevic, Ingo Borggraefe, Thomas V. Wuttke, Manuela Pendziwiat, Nils Holert, Hans Atli Dahl, Koen L.I. van Gassen, Rikke S. Møller, Carla Marini, Ulvi Vaher, Eva H. Brilstra

المصدر: Møller, R S, Wuttke, T V, Helbig, I, Marini, C, Johannesen, K M, Brilstra, E H, Vaher, U, Borggraefe, I, Talvik, I, Talvik, T, Kluger, G, Francois, L L, Lesca, G, de Bellescize, J, Blichfeldt, S, Chatron, N, Holert, N, Jacobs, J, Swinkels, M E M, Betzler, C, Syrbe, S, Nikanorova, M, Myers, C T, Larsen, L H G, Vejzovic, S, Pendziwiat, M, von Spiczak, S, Hopkins, S, Dubbs, H, Mang, Y, Mukhin, K, Holthausen, H, van Gassen, K L, Dahl, H A, Tommerup, N, Mefford, H C, Rubboli, G, Guerrini, R, Lemke, J R, Lerche, H, Muhle, H & Maljevic, S 2017, ' Mutations in GABRB3 : From febrile seizures to epileptic encephalopathies ', Neurology, vol. 88, no. 5, pp. 483-492 . https://doi.org/10.1212/WNL.0000000000003565

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Heterozygote, Patch-Clamp Techniques, Biology, Bioinformatics, medicine.disease_cause, Article, Membrane Potentials, Cohort Studies, Xenopus laevis, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Journal Article, medicine, Animals, Humans, Child, Automation, Laboratory, Genetics, Mutation, Massive parallel sequencing, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Heterozygote advantage, West Syndrome, Receptors, GABA-A, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Oocytes, GABAergic, Female, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e1555894ba8013eef4f67b8c11cfa96
https://doi.org/10.1212/wnl.0000000000003565

المؤلفون: Inga Talvik, Tiina Talvik, Katrin Õunap, Valentin Sander, Ulvi Vaher, Tiia Reimand, Pilvi Ilves, Klari Noormets, Stella Lilles

المصدر: Neuropediatrics. 47:361-367

مصطلحات موضوعية: Estonia, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, CDKL5, Protein Serine-Threonine Kinases, Gene mutation, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual disability, medicine, Humans, Genetic Testing, Genetic Association Studies, Genetic testing, Epilepsy, medicine.diagnostic_test, business.industry, Infant, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557aabed83487daa9bcdc29f36da9504
https://doi.org/10.1055/s-0036-1586730

المؤلفون: Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, Richard M. Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Caglayan, Katalin Sterbova, Dana Craiu, Dorota Hoffman, Anna-Elina Lehesjoki, Kaja Selmer, Christel Depienne, Johannes Lemke, Carla Marini, Renzo Guerrini, Bernd Neubauer, Tiina Talvik, Eric Leguern, Peter de Jonghe

المساهمون: EuroEPINOMICS Rare Epilepsy Syndro

المصدر: Møller, R S & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group 2018, ' Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1022-1029 . https://doi.org/10.1016/j.ajhg.2018.10.023
The American journal of human genetics

مصطلحات موضوعية: 0301 basic medicine, Male, SPLICE VARIANTS, PROTEIN, Epilepsies, Myoclonic, Sodium Channels, Transcriptome, Epilepsy, Exon, poison exon, 0302 clinical medicine, SCN1A, NEURONAL SODIUM-CHANNEL, BRAIN, Child, Genetics (clinical), Exome sequencing, Genetics, Genetics & Heredity, noncoding, Exons, Middle Aged, genome sequencing, Female, REGULATOR, Life Sciences & Biomedicine, Adult, Biology, 03 medical and health sciences, alternative splicing, Dravet syndrome, Report, medicine, Humans, Gene, Science & Technology, variant interpretation, Alternative splicing, epilepsy, Genetic Variation, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, DE-NOVO MUTATIONS, Neurodevelopmental Disorders, Human genome, Human medicine, 030217 neurology & neurosurgery

وصف الملف: Print

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea831a5b15156ae4f875e499f7848fc
https://pubmed.ncbi.nlm.nih.gov/30526861

المؤلفون: Inga Talvik, Katrin Õunap, Klari Noormets, Pilvi Ilves, Tiina Talvik, Anneli Kolk, Rael Laugesaar, Aita Napa, Reet Rein, Tiia Reimand, Ulvi Vaher, Eve Õiglane-Shlik, Oivi Uibo, Kadi Veri

المصدر: Journal of child neurology. 33(9)

مصطلحات موضوعية: Childhood epilepsy, Estonia, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Community Health Planning, Diagnostic modalities, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Age Distribution, 030225 pediatrics, Epidemiology, Medicine, Humans, Prospective Studies, Child, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, Infant, Electroencephalography, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), business, human activities, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b04a9db885c5cbb66c2fe11248884b2
https://pubmed.ncbi.nlm.nih.gov/29862897

المؤلفون: Jennifer Hirst, Sarah von Spiczak, Helle Hjalgrim, José M. Serratosa, Dana Craiu, Zaid Afawi, Hande Caglayan, Sarah Weckhuysen, Johanna A. Jähn, Tine Deconinck, Stéphanie Baulac, Felix Rosenow, Pasquale Striano, Hiltrud Muhle, Tiina Talvik, Patrick May, Petia Dimova, Arvid Suls, Carolien G.F. de Kovel, O Tarta-Arsene, Ingo Helbig, Christel Depienne, Katia Hardies, Tania Djémié, Bobby P. C. Koeleman, Carla Marini, Karl Martin Klein, Renzo Guerrini, Federico Zara, Rikke S. Møller, Dorota Hoffman-Zacharska, Yvonne G. Weber, Ulrich Stephani, Nina Barišić, Anna-Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Rosa Guerrero-López, Peter De Jonghe, Rudy Balling, Eric LeGuern

المساهمون: AR Working Group of the EuroEPINOMICS RES Consortium

المصدر: Human molecular genetics
Hardies, K, May, P, Djémié, T, Tarta-Arsene, O, Deconinck, T, Craiu, D, Helbig, I, Suls, A, Balling, R, Weckhuysen, S, De Jonghe, P, Hirst, J, AR working group of the EuroEPINOMICS RES Consortium, Hjalgrim, H & Møller, R S 2015, ' Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly ', Human Molecular Genetics, vol. 24, no. 8, pp. 2218-2227 . https://doi.org/10.1093/hmg/ddu740

مصطلحات موضوعية: Male, Heterozygote, Adolescent, Adaptor Protein Complex 4, Molecular Sequence Data, Genes, Recessive, Biology, Bioinformatics, Compound heterozygosity, medicine.disease_cause, Seizures, Febrile, Young Adult, Epilepsy, Child Development, Genetics, Genetics (clinical), Molecular Biology, medicine, Spastic, Humans, Child, Loss function, Mutation, Base Sequence, Spastic Paraplegia, Hereditary, Heterozygote advantage, AP-4, pediatrics, Articles, General Medicine, medicine.disease, Phenotype, Chemistry, Codon, Nonsense, Child, Preschool, Female, Human medicine, Paraplegia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e88f2674d9b5c621007cd16bd9111e
https://doi.org/10.1093/hmg/ddu740

المؤلفون: Rik Hendrickx, Tiina Talvik, Anna-Elina Lehesjoki, Laura Ortega, Federico Zara, Tarja Linnankivi, Uluç Yiş, Barca Diana, Inga Talvik, José M. Serratosa, Johannes R. Lemke, Yvonne G. Weber, Ulrich Stephani, Petia Dimova, Andrey Kirov, Eric LeGuern, Renzo Guerrini, Cihan Meral, Holger Lerche, Peter de Witte, Sarah Weckhuysen, Christel Depienne, Helle Hjalgrim, Nina Barišić, Beatriz G. Giráldez, Katalin Sterbova, Angela Robbiano, Mutluay Arslan, Vanja Ivanović, Alexander D. Crawford, Camila V. Esguerra, Stéphanie Baulac, Pasquale Striano, Kaja Kristine Selmer, Rosa Guerrero-López, Philip Holmgren, Gerhard Kluger, Angela Kecskés, Silke Appenzeller, Vladimir Komarek, Aleksandra Siekierska, Carla Marini, Bobby P. C. Koeleman, Padhraig Gormley, Budisteanu Magdalena, Manuela Pendiziwiat, Peter De Jonghe, Eva H. Brilstra, Albena Todorova, Johanna A. Jaehn, Oana Tarta Arsene, Tatiana Afrikanova, Arvid Suls, Rikke S. Møller, Dorota Hoffman-Zacharska, Aarno Palotie, Tania Djémié, Dana Craiu, Hande Caglayan, Elżbieta Szczepanik, Gherghiceanu Rodica, Sarah von Spiczak, Felix Rosenow, Ingo Helbig, Hiltrud Muhle, Gregor Kuhlenbäumer, Catrinel Iliescu

المساهمون: EuroEPINOMICS RES Consortium, ESF, European Science Foundation, WT089062, Wellcome Trust, 098051, Wellcome Trust, 261123, EC, European Commission, DFG, Deutsche Forschungsgemeinschaft [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Chemical Biology (Crawford Group) [research center], Hendrickx, Rik, Holmgren, Philip, Stephani, Ulrich, Ulrich, Hiltrud, Pendiziwiat, Manuela, Appenzeller, Silke, Selmer, Kaja, Brilstra, Eva, Koeleman, Bobby, Rosenow, Felix, Leguern, Eric, Sterbova, Katalin, Magdalena, Budisteanu, Rodica, Gherghiceanu, Tarta Arsene, Oana, Diana, Barca, Guerrero-Lopez, Rosa, Ortega, Laura, Todorova, Albena P, Kirov, Andrey V, Robbiano, Angela, Arslan, Mutluay, Yiş, Uluç, Ivanović, Vanja

المصدر: Suls, A, Jaehn, J A, Kecskés, A, Weber, Y, Weckhuysen, S, Craiu, D C, Siekierska, A, Djémié, T, Afrikanova, T, Gormley, P, von Spiczak, S, Kluger, G, Iliescu, C M, Talvik, T, Talvik, I, Meral, C, Caglayan, H S, Giraldez, B G, Serratosa, J, Lemke, J R, Hoffman-Zacharska, D, Szczepanik, E, Barisic, N, Komarek, V, Hjalgrim, H, Møller, R S, Linnankivi, T, Dimova, P, Striano, P, Zara, F, Marini, C, Guerrini, R, Depienne, C, Baulac, S, Kuhlenbäumer, G, Crawford, A D, Lehesjoki, A-E, de Witte, P A M, Palotie, A, Lerche, H, Esguerra, C V, De Jonghe, P, Helbig, I & EuroEPINOMICS RES Consortium 2013, ' De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome ', American Journal of Human Genetics, vol. 93, no. 5, pp. 967-975 . https://doi.org/10.1016/j.ajhg.2013.09.017
The American journal of human genetics
American Journal of Human Genetics, 93(5), 967-975. (2013).
ResearcherID
The American Journal of Human Genetics; Vol 93

مصطلحات موضوعية: Male, Proband, Epilepsies, Myoclonic, Haploinsufficiency, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Intellectual disability, Genetics(clinical), Exome, Cognitive decline, Child, Multidisciplinary, general & others [D99] [Human health sciences], Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Mutation, 3. Good health, DNA-Binding Proteins, Phenotype, Gene Knockdown Techniques, Larva, Female, Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Biology, Seizures, Febrile, Young Adult, 03 medical and health sciences, Dravet syndrome, Report, Intellectual Disability, medicine, Animals, Humans, 030304 developmental biology, Danio rerio, Dravet Syndrome, DNA fragment, medicine.disease, DNA binding protein, NAV1.1 Voltage-Gated Sodium Channel, CHD2, Immunology, Human medicine, Cognition Disorders, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0e22ad1eaf15b4fd1ad1275cf9dca5
https://doi.org/10.1016/j.ajhg.2013.09.017