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.

المصدر: Nature Genetics, 44(9), 1030
Nature genetics

مصطلحات موضوعية: Nonsynonymous substitution, Genetics, 0303 health sciences, Mutation, Alternating hemiplegia of childhood, Neurological disorder, Biology, Settore MED/03 - GENETICA MEDICA, medicine.disease, medicine.disease_cause, Alternating Hemiplegia, Article, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Etiology, 030217 neurology & neurosurgery, Alternating hemiplegia, Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5340c120e42b07a60df6c472c9cc43da

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec96186891d67b164cd194186d36e91a
https://doi.org/10.1093/brain/awq295

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/S1474-4422(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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e943b4c47204e135054138a32d35896e
https://pure.au.dk/portal/da/publications/distinct-neurological-disorders-with-atp1a3-mutations(3b72ceba-33bb-4c87-9433-3698cb1a535a).html

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

المصدر: In Archives de pédiatrie April 2013 20(4):431-431

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, ENRAH Consortium

المصدر: Brain: A Journal of Neurology; Dec2010, Vol. 133 Issue 12, p3598-3610, 13p

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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, Collaborators: Bassi MT, International AHC Consortium., 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: Universitat de Barcelona, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Suls, Arvid, De Jonghe, Peter, Ceulemans, Berten, Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium, UCL - (SLuc) Service de pédiatrie générale, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Orphanet Journal of Rare Diseases, 10
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet journal of rare diseases, 2015, 10, pp.123
Orphanet Journal of Rare Diseases, 2015, 10, pp.123. ⟨10.1186/s13023-015-0335-5⟩
Orphanet Journal of Rare Diseases, Vol. 10, no. 1, p. 123 [1-13] (2015)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Epilepsy, Genètica mèdica, 0302 clinical medicine, ATP1A3, inglese, Genetics(clinical), Pharmacology (medical), Young adult, Child, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, Mutation, Medical genetics, General Medicine, Middle Aged, Prognosis, 3. Good health, Child, Preschool, Alternating hemiplegia of childhood, Cohort, Hemiplègia, Female, Sodium-Potassium-Exchanging ATPase, Adult, medicine.medical_specialty, Adolescent, Hemiplegia, Biology, Genotype-phenotype, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Preschool, Genetic Association Studies, 030304 developmental biology, Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype, Health Surveys, Infant, Research, Mutació (Biologia), Mutation (Biology), medicine.disease, Clinical trial, Human medicine, 030217 neurology & neurosurgery, Alternating hemiplegia

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a13263008e5889413050f5bd11d69e
http://hdl.handle.net/2445/112025

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