المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.

المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J

مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11570/3162131Test

المؤلفون: Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, ATP1A3 Working Group, Ashcroft FM, Salem W, Brockmann K, Campistol J, Capuano A, Carrilho I, Casaer P, DE GRANDIS, ELISA, de Vries B, Di Michele M, Dion C, Doummar D, Einholm AP, Fons C, Franchini F, Friedrich T, Freson K, Gadsby DC, Giannotta M, Goubau C, Granata T, Hirose S, Hitomi Y, Holm R, Ikeda K, Ishii A, Khodakhah K, King MD, Kirshenbaum GS, Kockhans A, Koenderink JB, Lesca G, Lykke Hartmann K, Maschke U, Merida MR, Müller R, Neri G, Nielsen HN, Nissen P, O'Brien T, Panagiotakaki E, Parowicz M, Poncelin D, Reyna SP, Roder JC, Rosewich H, Sasaki M, Schack VR, Schyns P, Stagnaro M, Swoboda KJ, Tiziano DF, Toustrup Jensen MS, Vilamala A, Wuchich J.T.

المساهمون: Heinzen, El, Arzimanoglou, A, Brashear, A, Clapcote, Sj, Gurrieri, F, Goldstein, Db, Jóhannesson, Sh, Mikati, Ma, Neville, B, Nicole, S, Ozelius, Lj, Poulsen, H, Schyns, T, Sweadner, Kj, van den Maagdenberg, A, Vilsen, B, ATP1A3 Working, Group, Ashcroft, Fm, Salem, W, Brockmann, K, Campistol, J, Capuano, A, Carrilho, I, Casaer, P, DE GRANDIS, Elisa, de Vries, B, Di Michele, M, Dion, C, Doummar, D, Einholm, Ap, Fons, C, Franchini, F, Friedrich, T, Freson, K, Gadsby, Dc, Giannotta, M, Goubau, C, Granata, T, Hirose, S, Hitomi, Y, Holm, R, Ikeda, K, Ishii, A, Khodakhah, K, King, Md, Kirshenbaum, G, Kockhans, A, Koenderink, Jb, Lesca, G, Lykke Hartmann, K, Maschke, U, Merida, Mr, Müller, R, Neri, G, Nielsen, Hn, Nissen, P, O'Brien, T, Panagiotakaki, E, Parowicz, M, Poncelin, D, Reyna, Sp, Roder, Jc, Rosewich, H, Sasaki, M, Schack, Vr, Schyns, P, Stagnaro, M, Swoboda, Kj, Tiziano, Df, Toustrup Jensen, M, Vilamala, A, Wuchich, J. T.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000335108100016; volume:13; firstpage:503; lastpage:514; numberofpages:12; journal:LANCET NEUROLOGY; http://hdl.handle.net/11567/747811Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84898406777

الإتاحة: https://doi.org/10.1016/S1474-4422Test(14)70011-0
http://hdl.handle.net/11567/747811Test

المؤلفون: Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, European Alternating Hemiplegia of Childhood Genetics Consortium, Neri G, Koelewijn S, Kamphorst J, Geilenkirchen M, Pelzer N, Laan L, Haan J, Ferrari M, van den Maagdenberg A, Biobanca e. Registro Clinico per l'Emiplegia Alternante Consortium, Zucca C, Bassi MT, Franchini F, Vavassori R, Giannotta M, Gobbi G, Granata T, Nardocci N, De Grandis E, Veneselli E, Stagnaro M, Vigevano F, European Network for Research on Alternating Hemiplegia for Small, Medium sized Enterpriese Consortium, Oechsler C, Arzimanoglou A, Ninan M, Neville B, Ebinger F, Fons C, Campistol J, Kemlink D, Nevsimalova S, Peeters Scholte C, Casaer P, Sange G, Spiel G, Martinelli Boneschi F, Schyns T, Crawley F, Poncelin D, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein D.B., CASARI , GIORGIO NEVIO

المساهمون: Heinzen, El, Swoboda, Kj, Hitomi, Y, Gurrieri, F, Nicole, S, de Vries, B, Tiziano, Fd, Fontaine, B, Walley, Nm, Heavin, S, Panagiotakaki, E, European Alternating Hemiplegia of Childhood Genetics, Consortium, Neri, G, Koelewijn, S, Kamphorst, J, Geilenkirchen, M, Pelzer, N, Laan, L, Haan, J, Ferrari, M, van den Maagdenberg, A, Biobanca e., Registro Clinico per l'Emiplegia Alternante Consortium, Zucca, C, Bassi, Mt, Franchini, F, Vavassori, R, Giannotta, M, Gobbi, G, Granata, T, Nardocci, N, De Grandis, E, Veneselli, E, Stagnaro, M, Vigevano, F, European Network for Research on Alternating Hemiplegia for, Small, Medium sized Enterpriese, Consortium, Oechsler, C, Arzimanoglou, A, Ninan, M, Neville, B, Ebinger, F, Fons, C, Campistol, J, Kemlink, D, Nevsimalova, S, Peeters Scholte, C, Casaer, P, Casari, GIORGIO NEVIO, Sange, G, Spiel, G, Martinelli Boneschi, F, Schyns, T, Crawley, F, Poncelin, D, Fiori, S, Abiusi, E, Di Pietro, L, Sweney, Mt, Newcomb, Tm, Viollet, L, Huff, C, Jorde, Lb, Reyna, Sp, Murphy, Kj, Shianna, Kv, Gumbs, Ce, Little, L, Silver, K, Ptáček, Lj, Ferrari, Md, Bye, Am, Herkes, Gk, Whitelaw, Cm, Webb, D, Lynch, Bj, Uldall, P, King, Md, Scheffer, Ie, van den Maagdenberg, Am, Sisodiya, Sm, Mikati, Ma, Goldstein, D. B.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22842232; info:eu-repo/semantics/altIdentifier/wos/WOS:000308491200015; volume:44; firstpage:1030-4; journal:NATURE GENETICS; http://hdl.handle.net/20.500.11768/12933Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865684547

الإتاحة: https://doi.org/20.500.11768/12933Test
https://doi.org/10.1038/ng.2358Test
https://hdl.handle.net/20.500.11768/12933Test

المؤلفون: Panagiotakaki, E, Gobbi, G, Neville, B, Ebinger, F, Campistol, J, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Giannotta, M, Fons, C, Ninan, M, Sange, G, Schyns, T, Vavassori, R, Poncelin, D, Arzimanoglou, A, CASARI , GIORGIO NEVIO, The ENRAH Consortium

المساهمون: Panagiotakaki, E, Gobbi, G, Neville, B, Ebinger, F, Campistol, J, Nevsímalová, S, Laan, L, Casaer, P, Spiel, G, Giannotta, M, Fons, C, Ninan, M, Sange, G, Schyns, T, Vavassori, R, Poncelin, D, Arzimanoglou, A, Casari, GIORGIO NEVIO, The ENRAH, Consortium

المصدر: Brain, 133, 3598-3610

مصطلحات موضوعية: Registrie, Male, Aging, Pediatrics, Neurological disorder, Functional Laterality, Cohort Studies, Disability Evaluation, Epilepsy, Ocular Motility Disorders, Retrospective Studie, Surveys and Questionnaires, ATP1A3, Surveys and Questionnaire, Sleep Wake Disorder, Registries, Child, Data Collection, Headache, Middle Aged, Autonomic Nervous System Disease, Seizure, Europe, Treatment Outcome, Child, Preschool, Data Interpretation, Statistical, Disease Progression, Female, Psychology, Human, Cohort study, Adult, Sleep Wake Disorders, medicine.medical_specialty, adulthood, Adolescent, sudden death, Hemiplegia, Sudden death, Young Adult, Seizures, alternating hemiplegia, evolution, medicine, Humans, Ocular Motility Disorder, Retrospective Studies, Alternating hemiplegia of childhood, Infant, Retrospective cohort study, medicine.disease, Autonomic Nervous System Diseases, AHC, Physical therapy, Neurology (clinical), Cohort Studie, Alternating hemiplegia, alternating hemiplegia AHC evolution adulthood sudden death no mutations complicated migraine flunarizine atp1a2 gene topiramate infancy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec96186891d67b164cd194186d36e91aTest
https://doi.org/10.1093/brain/awq295Test

المؤلفون: Heinzen, El, Arzimanoglou, A, Brashear, A, Clapcote, Sj, Gurrieri, F, Goldstein, Db, Jóhannesson, Sh, Mikati, Ma, Neville, B, Nicole, S, Ozelius, Lj, Poulsen, H, Schyns, T, Sweadner, Kj, van den Maagdenberg, A, Vilsen, B, ATP1A3 Working Group, Ashcroft, Fm, Salem, W, Brockmann, K, Campistol, J, Capuano, A, Carrilho, I, Casaer, P, DE GRANDIS, Elisa, de Vries, B, Di Michele, M, Dion, C, Doummar, D, Einholm, Ap, Fons, C, Franchini, F, Friedrich, T, Freson, K, Gadsby, Dc, Giannotta, M, Goubau, C, Granata, T, Hirose, S, Hitomi, Y, Holm, R, Ikeda, K, Ishii, A, Khodakhah, K, King, Md, Kirshenbaum, Gs, Kockhans, A, Koenderink, Jb, Lesca, G, Lykke Hartmann, K, Maschke, U, Merida, Mr, Müller, R, Neri, G, Nielsen, Hn, Nissen, P, O'Brien, T, Panagiotakaki, E, Parowicz, M, Poncelin, D, Reyna, Sp, Roder, Jc, Rosewich, H, Sasaki, M, Schack, Vr, Schyns, P, Stagnaro, M, Swoboda, Kj, Tiziano, Df, Toustrup Jensen MS, Vilamala, A, Wuchich, J. T.

المساهمون: UCL - (SLuc) Service de pédiatrie générale, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

المصدر: Heinzen, E L, Arzimanoglou, A, Brashear, A, Clapcote, S J, Gurrieri, F, Goldstein, D B, Jóhannesson, S H, Mikati, M A, Neville, B, Nicole, S, Ozelius, L J, Poulsen, H, Schyns, T, Sweadner, K J, van den Maagdenberg, A, Vilsen, B & for the ATP1A3 Working Group: 2014, ' Distinct neurological disorders with ATP1A3 mutations ', Lancet Neurology, vol. 13, no. 5, pp. 503-514 . https://doi.org/10.1016/S1474-4422Test(14)70011-0
The Lancet Neurology, Vol. 13, no. 5, p. 503-514 (2014)
Lancet Neurology, 13, 5, pp. 503-14
Lancet Neurology, 13, 503-14

مصطلحات موضوعية: Models, Molecular, Alternating Hemiplegia Childhood, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Hemiplegia, Disease, Biology, Settore MED/03 - GENETICA MEDICA, medicine.disease_cause, Article, ATP1A3, medicine, Animals, Humans, Genetic Predisposition to Disease, Gene, Sequence (medicine), Genetics, Mutation, Mechanism (biology), Alternating hemiplegia of childhood, Parkinson Disease, ATP1A3, Alternating Hemiplegia Childhood, medicine.disease, Databases, Bibliographic, Neurology (clinical), α3 subunit, Sodium-Potassium-Exchanging ATPase, Nervous System Diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e943b4c47204e135054138a32d35896eTest
https://pure.au.dk/portal/da/publications/distinct-neurological-disorders-with-atp1a3-mutationsTest(3b72ceba-33bb-4c87-9433-3698cb1a535a).html

المؤلفون: Ramirez-Camacho, A, Panagiotakaki, E, Poncelin, D, Nicole, S, Lesca, G, Arzimanoglou, A

المصدر: European Journal of Paediatric Neurology ; volume 17, page S19 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(13)70061-8
https://api.elsevier.com/content/article/PII:S1090379813700618?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379813700618?httpAccept=text/plainTest

المؤلفون: Panagiotakaki, E., Poncelin, D., Nicole, S., Lesca, G., Arzimanoglou, A.

المصدر: Archives de Pédiatrie ; volume 20, issue 4, page 431 ; ISSN 0929-693X

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.arcped.2013.01.050Test
https://api.elsevier.com/content/article/PII:S0929693X13000857?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0929693X13000857?httpAccept=text/plainTest

المؤلفون: Save, J., Poncelin, D., Auvin, S.

المصدر: European Journal of Paediatric Neurology ; volume 15, page S126 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(11)70441-x
https://api.elsevier.com/content/article/PII:S109037981170441X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109037981170441X?httpAccept=text/plainTest

المؤلفون: Panagiotakaki, E., Gobbi, G., Neville, B., Ebinger, F., Campistol, J., Nevsimalova, S., Laan, L., Casaer, P., Spiel, G., Giannotta, M., Fons, C., Ninan, M., Sange, G., Schyns, T., Vavassori, R., Poncelin, D., Arzimanoglou, A., ENRAH Consortium

المصدر: Brain

مصطلحات موضوعية: alternating hemiplegia AHC evolution adulthood sudden death no mutations complicated migraine flunarizine atp1a2 gene topiramate infancy

العلاقة: lumc-id: 3772415; https://hdl.handle.net/1887/102967Test

الإتاحة: https://doi.org/10.1093/brain/awq295Test
https://hdl.handle.net/1887/102967Test

المؤلفون: Panagiotakaki, E., Poncelin, D., Schyns, T., Arzimanoglou, A.

المصدر: European Journal of Paediatric Neurology ; volume 11, page 31-32 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(08)70359-3
https://api.elsevier.com/content/article/PII:S1090379808703593?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379808703593?httpAccept=text/plainTest