المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Oliver, K. L., Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., TINUPER, PAOLO, LICCHETTA, LAURA, Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

المساهمون: Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E.

مصطلحات موضوعية: Amino Acid Sequence, Amino Acid Substitution, Animal, Base Sequence, Carrier Protein, Conserved Sequence, Exome, Female, Genes, Dominant, Heat-Shock Protein, Human, Male, Molecular Sequence Data, Myoclonic Epilepsies, Progressive, Pedigree, Prion, Protein Conformation, Sequence Alignment, Sequence Homology, Amino Acid, Shaw Potassium Channel, Species Specificity, Mutation, Missense, Point Mutation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25401298; info:eu-repo/semantics/altIdentifier/wos/WOS:000346990400009; volume:47; issue:1; firstpage:39; lastpage:46; numberofpages:8; journal:NATURE GENETICS; info:eu-repo/grantAgreement/EC/FP7/201413 ,242167, 261433, 261123; http://hdl.handle.net/11585/515030Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930946843; https://www.nature.com/articles/ng.3144Test

الإتاحة: https://doi.org/10.1038/ng.3144Test
http://hdl.handle.net/11585/515030Test
https://www.nature.com/articles/ng.3144Test

المؤلفون: Turunen, J., Markkinen, S., Wilska, R., Kivelä, T.

المصدر: Acta Ophthalmologica ; volume 93, issue S255 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2015.0573Test

المؤلفون: TURUNEN, J, MARKKINEN, S, WILSKA, R, MUONA, M, RAIVIO, V, TÄLL, M, LINDH, S, LEHESJOKI, AE, KIVELÄ, T

المصدر: Acta Ophthalmologica ; volume 92, issue s253, page 0-0 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2014.4242.xTest

المؤلفون: Muona, M., Berkovic, S. F., Dibbens, L. M., Karen Oliver, Maljevic, S., Bayly, M. A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S. E., Hildebrand, M. S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I. E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M. D., Ozkara, C., Andrade, D. M., Engelsen, B. A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A. J., Kauffmann, B., Duchowny, M., Moller, R. S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K. E., Daly, M. J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A. E.

المصدر: Web of Science
ResearcherID

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2baad9991da549ca7689c77e99bfa6c5Test
https://publons.com/wos-op/publon/6932081Test/

المؤلفون: Steven Petrou, Aarno Palotie, Danielle M. Andrade, Marta A. Bayly, Laura Licchetta, Ingrid E. Scheffer, Rikke S. Møller, Frederick Andermann, Laura Canafoglia, Arielle Crespel, Silvana Franceschetti, Veronica Saletti, Michael Duchowny, Michael S. Hildebrand, Ebba Lohmann, Antonio Gambardella, Eva Andermann, Chiara Criscuolo, Salla Markkinen, Bernt A. Engelsen, Cigdem Ozkara, Meral Topçu, Adeel Ahmad, Edoardo Ferlazzo, Holger Lerche, João Massano, Edith Said, Mary D. King, Paolo Tinuper, Alessandro Filla, Mikko Muona, Samuel F. Berkovic, Betül Baykan, Alberto J. Espay, Karen Oliver, Matthias Lindenau, Michael Privitera, Zaid Afawi, Tarja Joensuu, Leanne M. Dibbens, Bruria Ben-Zeev, Snezana Maljevic, Patrizia Riguzzi, Kaitlin E. Samocha, Birgit Kauffmann, Mark J. Daly, Roberto Michelucci, Rachel Straussberg, Sarah E. Heron, Anna-Elina Lehesjoki, Jamil Ahmad

المساهمون: Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Bayly, Marta A, Heron, Sarah E, Lehesjoki, Anna-Elina, Muona, M., Berkovic, S.F., Dibbens, L.M., Oliver, K.L., Maljevic, S., Bayly, M.A., Joensuu, T., Canafoglia, L., Franceschetti, S., Michelucci, R., Markkinen, S., Heron, S.E., Hildebrand, M.S., Andermann, E., Andermann, F., Gambardella, A., Tinuper, P., Licchetta, L., Scheffer, I.E., Criscuolo, C., Filla, A., Ferlazzo, E., Ahmad, J., Ahmad, A., Baykan, B., Said, E., Topcu, M., Riguzzi, P., King, M.D., Ozkara, C., Andrade, D.M., Engelsen, B.A., Crespel, A., Lindenau, M., Lohmann, E., Saletti, V., Massano, J., Privitera, M., Espay, A.J., Kauffmann, B., Duchowny, M., Moller, R.S., Straussberg, R., Afawi, Z., Ben-Zeev, B., Samocha, K.E., Daly, M.J., Petrou, S., Lerche, H., Palotie, A., Lehesjoki, A.-E., Çocuk Sağlığı ve Hastalıkları, Maljevic, Snezana, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthia, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna Elina

المصدر: Nature genetics 47(1), 39-46 (2014). doi:10.1038/ng.3144
Muona, M, Berkovic, S F, Dibbens, L M, Oliver, K L, Maljevic, S, Bayly, M A, Joensuu, T, Canafoglia, L, Franceschetti, S, Michelucci, R, Markkinen, S, Heron, S E, Hildebrand, M S, Andermann, E, Andermann, F, Gambardella, A, Tinuper, P, Licchetta, L, Scheffer, I E, Criscuolo, C, Filla, A, Ferlazzo, E, Ahmad, J, Ahmad, A, Baykan, B, Said, E, Topcu, M, Riguzzi, P, King, M D, Ozkara, C, Andrade, D M, Engelsen, B A, Crespel, A, Lindenau, M, Lohmann, E, Saletti, V, Massano, J, Privitera, M, Espay, A J, Kauffmann, B, Duchowny, M, Moller, R S, Straussberg, R, Afawi, Z, Ben-Zeev, B, Samocha, K E, Daly, M J, Petrou, S, Lerche, H, Palotie, A & Lehesjoki, A E 2015, ' A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy ', Nature Genetics, vol. 47, no. 1, pp. 39-46 . https://doi.org/10.1038/ng.3144Test

مصطلحات موضوعية: Male, Protein Conformation, PRNP protein, human, SACS protein, human, medicine.disease_cause, genetics [Carrier Proteins], Epilepsy, 0302 clinical medicine, genetics [Heat-Shock Proteins], Missense mutation, Exome, Conserved Sequence, Heat-Shock Proteins, Genes, Dominant, Genetics & Heredity, Genetics, 0303 health sciences, Mutation, GTPase-Activating Proteins, Heat-Shock Protein, genetics [Myoclonic Epilepsies, Progressive], KCNC1 protein, human, 3. Good health, Pedigree, Shaw Potassium Channels, Prion, Female, medicine.symptom, Human, Ataxia, Prions, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Progressive myoclonus epilepsy, Biology, Article, Prion Proteins, 03 medical and health sciences, Species Specificity, physiology [Shaw Potassium Channels], ddc:570, medicine, Animals, Humans, Point Mutation, Shaw Potassium Channel, Amino Acid Sequence, 030304 developmental biology, genetics [Shaw Potassium Channels], Base Sequence, Sequence Homology, Amino Acid, Animal, genetics [Prions], Point mutation, Membrane Proteins, medicine.disease, Myoclonic Epilepsies, Progressive, Molecular biology, SHAKER K+ CHANNEL DNA-SEQUENCING DATA ATAXIA TYPE 13 POTASSIUM CHANNEL S4 SEGMENT CYSTATIN-B DISEASE FREQUENCY FRAMEWORK ONSET, Amino Acid Substitution, KCNC1, epilepsy, TBC1D24 protein, human, mutation, Carrier Protein, Carrier Proteins, Myoclonus, Sequence Alignment, 030217 neurology & neurosurgery

وصف الملف: STAMPA; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa4050a358a032c2d80f76710ccd788fTest
https://hdl.handle.net/11541.2/111719Test