المؤلفون: Lee, S. -W., Irwin, J. A., Dettmar, R. -J., Cunningham, C. T., Golla, G., Wang, Q. D.

مصطلحات موضوعية: Astrophysics

الوصول الحر: http://arxiv.org/abs/astro-ph/0108510Test

المؤلفون: Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Moller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H., Fazeli, W.

المساهمون: Children's Hospital, University Management, Lastenneurologian yksikkö, HUS Children and Adolescents

مصطلحات موضوعية: Acetazolamide, Episodic ataxia, Epilepsy, SCN2A, NEONATAL EPILEPSY, CHANNEL GENE, MUTATIONS, ENCEPHALOPATHY, VARIANTS, SEIZURES, 3112 Neurosciences, 3124 Neurology and psychiatry, 3123 Gynaecology and paediatrics

وصف الملف: application/pdf

العلاقة: N.S. was in part supported from the intramural research funding program of the Faculty of Medicine Tubingen (Fortune 2381-0-0). J.H. conducted her work within the GARD study (protocol H09-01228) and TIDEX Study (protocol H12-00067).; Schwarz , N , Bast , T , Gaily , E , Golla , G , Gorman , K M , Griffiths , L R , Hahn , A , Hukin , J , King , M , Korff , C , Miranda , M J , Moller , R S , Neubauer , B , Smith , R A , Smol , T , Striano , P , Stroud , B , Vaccarezza , M , Kluger , G , Lerche , H & Fazeli , W 2019 , ' Clinical and genetic spectrum of SCN2A-associated episodic ataxia ' , European Journal of Paediatric Neurology , vol. 23 , no. 3 , pp. 438-447 . https://doi.org/10.1016/j.ejpn.2019.03.001Test; aed2c86a-17e6-4812-afea-9e711185846a; http://hdl.handle.net/10138/312974Test; 000472588200014

الإتاحة: http://hdl.handle.net/10138/312974Test

المؤلفون: Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Møller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H., Fazeli, W.

المصدر: Schwarz , N , Bast , T , Gaily , E , Golla , G , Gorman , K M , Griffiths , L R , Hahn , A , Hukin , J , King , M , Korff , C , Miranda , M J , Møller , R S , Neubauer , B , Smith , R A , Smol , T , Striano , P , Stroud , B , Vaccarezza , M , Kluger , G , Lerche , H & Fazeli , W 2019 , ' Clinical and genetic spectrum of SCN2A-associated episodic ataxia ....

مصطلحات موضوعية: Acetazolamide, Epilepsy, Episodic ataxia, SCN2A

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d48f06cc-656d-4343-8adc-c31dc722b562Test

الإتاحة: https://doi.org/10.1016/j.ejpn.2019.03.001Test
https://portal.findresearcher.sdu.dk/da/publications/d48f06cc-656d-4343-8adc-c31dc722b562Test
https://findresearcher.sdu.dk/ws/files/153657483/Clinical_and_genetic_spectrum_of_SCN2A_associated_episodic_ataxia.pdfTest

المؤلفون: Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), Møller, R.S. (Rikke)

المصدر: Brain: a journal of neurology vol. 140 no. 5, pp. 1316-1336

مصطلحات موضوعية: epilepsy, epilepsy genetics, SCN2A, sodium channel blockers, treatment response

العلاقة: info:eu-repo/grantAgreement/EC/FP7/279062; http://repub.eur.nl/pub/100043Test; urn:hdl:1765/100043

الإتاحة: https://doi.org/10.1093/brain/awx054Test
http://repub.eur.nl/pub/100043Test

المؤلفون: Leitz, N, Kollertz, P, Zimmer, M, Golla, G, Luttkus, A

المصدر: Zeitschrift für Geburtshilfe und Neonatologie ; 29. Deutscher Kongress für Perinatale Medizin. Deutsche Gesellschaft für Perinatale Medizin (DGPM) – „Hinterm Horizont geht's weiter, zusammen sind wir stark“ ; ISSN 1439-1651

الإتاحة: https://doi.org/10.1055/s-0039-3401263Test

المؤلفون: Schwarz, N, Bast, T, Gaily, E, Golla, G, Gorman, K M, Griffiths, L R, Hahn, A, Hukin, J, King, M, Korff, Christian, Miranda, M J, Møller, R S, Neubauer, B, Smith, R A, Smol, T, Striano, P, Stroud, B, Vaccarezza, M, Kluger, G, Lerche, H, Fazeli, W

المصدر: ISSN: 1090-3798 ; European Journal of Paediatric Neurology, vol. 23, no. 3 (2019) p. 438-447.

مصطلحات موضوعية: info:eu-repo/classification/ddc/618, Acetazolamide, Epilepsy, Episodic ataxia, SCN2A

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30928199; https://archive-ouverte.unige.ch/unige:146026Test; unige:146026

الإتاحة: https://doi.org/10.1016/j.ejpn.2019.03.001Test
https://archive-ouverte.unige.ch/unige:146026Test

المؤلفون: Krause, M., Golla, G., Morita, K.-I., Wielebinski, R.

المصدر: International Astronomical Union Colloquium ; volume 140, page 363-365 ; ISSN 0252-9211

الإتاحة: https://doi.org/10.1017/s0252921100020017Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0252921100020017Test

المؤلفون: Sofue, Y., Nakai, N., Handa, T., Golla, G., Reuter, H.-P., Wielebinski, R.

المصدر: Symposium - International Astronomical Union ; volume 144, page 307-308 ; ISSN 0074-1809

الإتاحة: https://doi.org/10.1017/s0074180900089221Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0074180900089221Test

المؤلفون: Ceulemans, B., Lederer, D., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Helbig, I, Kluger, G., Moller, R. S., Johannesen, K. M., Wolf, M., Masnada, S., Rubboli, G., Gardella, E., Milh, M., Villard, L., Mignot, C., Lardennois, C., Bourel-Ponchel, Emilie, Nava, C., Lesca, G., Gerard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Brilstra, E., Knoers, N., Doecker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brueckner, R., Pietz, J., Golla, G., Jillella, D., Afenjar, A., Linnet, K. M., Charles, P., Oiglane-Slik, E., Mantovani, J. F., Deprez, M., Scalais, E., Lagae, L., Nikanorova, M., Hjalgrim, H., Depienne, C., Scheidecker, S., Kremer, V, Doray, B., Alembik, Y.

المساهمون: University of British Columbia (UBC), Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Ecole Polytechnique Fédérale de Lausanne (EPFL), Université de Strasbourg (UNISTRA), Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Insulaire du Vivant et de l'Environnement (LIVE), Université de la Nouvelle-Calédonie (UNC), Service de neuropédiatrie et maladies métaboliques CHU Robert-Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Department of Child Neurology, Development and Rehabilitation Hospital of Eastern Switzerland, Children's Hospital of Eastern Switzerland St.Gallen, CHU Trousseau APHP, Service de médecine interne et centre de référence des maladies rares CHU Cochin, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), IMEC (IMEC), Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Statens seruminstitut, Les Hôpitaux Universitaires de Strasbourg (HUS)

المصدر: ISSN: 0013-9580.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03604346; https://u-picardie.hal.science/hal-03604346Test

الإتاحة: https://u-picardie.hal.science/hal-03604346Test

المؤلفون: Lee, S-W, Irwin, JA, Dettmar, R-J, Cunningham, CT, Golla, G, Wang, QD

المصدر: Daniel Q. Wang

مصطلحات موضوعية: ISM: bubbles -- ISM: general -- ISM: structure -- galaxies: general -- galaxies: individual: NGC 5775 -- galaxies: spiral, Astrophysics and Astronomy

العلاقة: https://works.bepress.com/daniel_wang/44Test

الإتاحة: https://works.bepress.com/daniel_wang/44Test