المؤلفون: Panagiotakaki, E., Tiziano, F.D., Mikati, M.A., Vijfhuizen, L.S., Nicole, S., Lesca, G., Abiusi, E., Novelli, A., Pietro, L. Di, Harder, A.V.E., Walley, N.M., Grandis, E. De, Poulat, A.L., Portes, V.D., Lépine, A., Nassogne, M.C., Arzimanoglou, A., Vavassori, R., Koenderink, J.B., Thompson, C.H., George AL, J.r., Gurrieri, F., Maagdenberg, A.M. van den, Heinzen, E.L.

المصدر: European Journal of Human Genetics, 32, 2, pp. 224-231

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Tijdelijke code tbv inlezen publicaties Radboudumc - Alleen voor gebruik door Radboudumc

العلاقة: https://repository.ubn.ru.nl/handle/2066/303468Test

الإتاحة: https://doi.org/10.1038/s41431-023-01489-4Test
https://repository.ubn.ru.nl/handle/2066/303468Test

المؤلفون: Uchitel, J, Wallace, K, Tran, L, Abrahamsen, T, Hunanyan, A, Prange, L, Jasien, J, Caligiuri, L, Pratt, M, Rikard, B, Fons, C, De Grandis, E, Vezyroglou, A, Heinzen, EL, Goldstein, DB, Vavassori, R, Papadopoulou, MT, Cocco, I, Moré, R, Duke AHC Research Group, ., French AHC Consortium, ., Arzimanoglou, A, Panagiotakaki, E, Mikati, MA

المصدر: Brain Communications , 3 (3) , Article fcab128. (2021)

مصطلحات موضوعية: ATP1A3, alternating hemiplegia of childhood, disability, Mashlool D801N mouse, progression

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135838Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135838Test/

المؤلفون: Balestrini, S, Mikati, MA, Garcia-Roves, RA, Carboni, M, Hunanyan, AS, Kherallah, B, McLean, M, Prange, L, De Grandis, E, Gagliardi, A, Pisciotta, L, Stagnaro, M, Veneselli, E, Campistol, J, Fons, C, Pias-Peleteiro, L, Brashear, A, Miller, C, Samoes, R, Brankovic, V, Padiath, QS, Potic, A, Pilch, J, Vezyroglou, K, Bye, AME, Davis, AM, Ryan, MM, Semsarian, C, Hollingsworth, G, Scheffer, IE, Granata, T, Nardocci, N, Ragona, F, Arzimanoglou, A, Panagiotakaki, E, Carrilho, I, Zucca, C, Novy, J, Dzieżyc, K, Parowicz, M, Mazurkiewicz-Bełdzińska, M, Weckhuysen, S, Pons, R, Groppa, S, Sinden, DS, Pitt, GS, Tinker, A, Ashworth, M, Michalak, Z, Thom, M, Cross, JH, Vavassori, R, Kaski, JP, Sisodiya, SM

المصدر: Neurology , 95 (21) e2866-e2879. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10110385Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10110385Test/

المؤلفون: Panagiotakaki, E., Tiziano, F.D., Mikati, M.A., Vijfhuizen, L.S., Nicole, S., Lesca, G., Abiusi, E., Novelli, A., Pietro, L. di, Harder, A.V.E., Walley, N.M., Grandis, E. de, Poulat, A.L., Portes, V.D., Lepine, A., Nassogne, M.C., Arzimanoglou, A., Vavassori, R., Koenderink, J., Thompson, C.H., George, A.L., Gurrieri, F., Maagdenberg, A.M.J.M. van den, Heinzen, E.L.

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: https://www.nature.com/articles/s41431-023-01489-4Test; lumc-id: 185947232; https://hdl.handle.net/1887/3731513Test

الإتاحة: https://doi.org/10.1038/s41431-023-01489-4Test
https://hdl.handle.net/1887/3731513Test
https://www.nature.com/articles/s41431-023-01489-4Test

المؤلفون: Nott, E., Behl, K.E., Brambilla, I., Green, T.E., Lucente, M., Vavassori, R., Watson, A., Dalla Bernardina, B., Hildebrand, M.S.

المصدر: European Journal of Medical Genetics ; volume 66, issue 3, page 104680 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2022.104680Test
https://api.elsevier.com/content/article/PII:S1769721222002610?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721222002610?httpAccept=text/plainTest

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: Panagiotakaki, E, De Grandis, E, Stagnaro, M, Heinzen, EL, 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, AMJM, Mikati, M, Goldstein, DB, Vavassori, R, Arzimanoglou, A

العلاقة: pii: 10.1186/s13023-015-0335-5; 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. ,. Arzimanoglou, A. (2015). Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ORPHANET JOURNAL OF RARE DISEASES, 10 (1), https://doi.org/10.1186/s13023-015-0335-5Test.; http://hdl.handle.net/11343/261683Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11343/261683Test

المؤلفون: Jaffer, F, Avbersek, A, Vavassori, R, Fons, C, Campistol, J, Stagnaro, M, De Grandis, E, Veneselli, E, Rosewich, H, Gianotta, M, Zucca, C, Ragona, F, Granata, T, Nardocci, N, Mikati, M, Helseth, AR, Boelman, C, Minassian, BA, Johns, S, Garry, SI, Scheffer, IE, Gourfinkel-An, I, Carrilho, I, Aylett, SE, Parton, M, Hanna, MG, Houlden, H, Neville, B, Kurian, MA, Novy, J, Sander, JW, Lambiase, PD, Behr, ER, Schyns, T, Arzimanoglou, A, Cross, JH, Kaski, JP, Sisodiya, SM

العلاقة: pii: awv243; Jaffer, F., Avbersek, A., Vavassori, R., Fons, C., Campistol, J., Stagnaro, M., De Grandis, E., Veneselli, E., Rosewich, H., Gianotta, M., Zucca, C., Ragona, F., Granata, T., Nardocci, N., Mikati, M., Helseth, A. R., Boelman, C., Minassian, B. A., Johns, S. ,. Sisodiya, S. M. (2015). Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. BRAIN, 138 (Pt 10), pp.2859-2874. https://doi.org/10.1093/brain/awv243Test.; http://hdl.handle.net/11343/257702Test

الإتاحة: https://doi.org/10.1093/brain/awv243Test
http://hdl.handle.net/11343/257702Test

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