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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: von Wolff, M, Johannesen, KM, Hedrich, UBS, Masnada, S, Rubboli, G, Gardella, E, Lesca, G, Ville, D, Milh, M, Villard, L, Afenjar, A, Chantot-Bastaraud, S, Mignot, C, Lardennois, C, Nava, C, Schwarz, N, Gerard, M, Perrin, L, Doummar, D, Auvin, S, Miranda, MJ, Hempel, M, Brilstra, E, Knoers, N, Verbeek, N, van Kempen, M, Braun, KP, Verheijen - Mancini, Grazia, Biskup, S, Hortnagel, K, Docker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Baumeister, FM, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, JG, Arndt, DH, Deconinck, N, Schmitt-Mechelke, T, Maier, O, Muhle, H, Wical, B, Finetti, C
المصدر: von Wolff , M , Johannesen , KM , Hedrich , UBS , Masnada , S , Rubboli , G , Gardella , E , Lesca , G , Ville , D , Milh , M , Villard , L , Afenjar , A , Chantot-Bastaraud , S , Mignot , C , Lardennois , C , Nava , C , Schwarz , N , Gerard , M , Perrin , L , Doummar , D , Auvin , S , Miranda , MJ , Hempel , M , Brilstra , E , Knoers , N , Verbeek , ....
الإتاحة: https://doi.org/10.1093/brain/awx054Test
https://pure.eur.nl/en/publications/7a257301-5fa7-4f6f-913b-cc36ae738674Test
http://hdl.handle.net/1765/100043Test -
3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Wong L. J, Naviaux RK, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland W.C., BRUNETTI PIERRI, NICOLA
المساهمون: Wong, L. J., Naviaux, Rk, BRUNETTI PIERRI, Nicola, Zhang, Q, Schmitt, E, Truong, C, Milone, M, Cohen, Bh, Wical, B, Ganesh, J, Basinger, Aa, Burton, Bk, Swoboda, K, Gilbert, Dl, Vanderver, A, Saneto, Rp, Maranda, B, Arnold, G, Abdenur, Je, Waters, Pj, Copeland, W. C.
وصف الملف: STAMPA
العلاقة: volume:29; issue:9; firstpage:150; lastpage:172; numberofpages:23; journal:HUMAN MUTATION; http://hdl.handle.net/11588/363108Test
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5دورية أكاديمية
المؤلفون: Lewine, J.D., Morrell, F., Hwang, P., Chuang, S., Wical, B., Morrison, L., Shih, J., Orrison, W.W.
المصدر: Electroencephalography and Clinical Neurophysiology ; volume 95, issue 2, page P20 ; ISSN 0013-4694
مصطلحات موضوعية: Neurology (clinical), General Neuroscience
الإتاحة: https://doi.org/10.1016/0013-4694Test(95)97928-t
https://api.elsevier.com/content/article/PII:001346949597928T?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:001346949597928T?httpAccept=text/plainTest -
6دورية
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7
المؤلفون: Barbara K. Burton, Georgianne L. Arnold, William C. Copeland, Bruno Maranda, Margherita Milone, Russell P. Saneto, Cavatina K. Truong, Jaya Ganesh, Adeline Vanderver, Paula J. Waters, Eric S. Schmitt, Bruce H. Cohen, Kathryn J. Swoboda, Qing Zhang, Donald L. Gilbert, Jose E. Abdenur, Beverly Wical, Lee-Jun C. Wong, Alice Basinger, Robert K. Naviaux, Nicola Brunetti-Pierri
المساهمون: Wong, L. J., Naviaux, Rk, BRUNETTI PIERRI, Nicola, Zhang, Q, Schmitt, E, Truong, C, Milone, M, Cohen, Bh, Wical, B, Ganesh, J, Basinger, Aa, Burton, Bk, Swoboda, K, Gilbert, Dl, Vanderver, A, Saneto, Rp, Maranda, B, Arnold, G, Abdenur, Je, Waters, Pj, Copeland, W. C.
مصطلحات موضوعية: Adult, Male, Models, Molecular, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Mitochondrial disease, DNA Mutational Analysis, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, Article, Sensory ataxia, Genetics, medicine, Missense mutation, Humans, Allele, Myopathy, Child, Gene, Genetics (clinical), Alleles, Mutation, Models, Genetic, Liver Diseases, Infant, Diffuse Cerebral Sclerosis of Schilder, Neurodegenerative Diseases, medicine.disease, DNA Polymerase gamma, Phenotype, Child, Preschool, Medical genetics, Female, medicine.symptom
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01942f80f29c08b9127d8b70b85e13fTest
http://hdl.handle.net/11588/363108Test