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: Sabaz M, Lawson JA, Cairns DR, Duchowny MS, Resnick TJ, Dean PM, Bleasel AF, Bye AM

المصدر: Neurology; 2006 Feb 28, Vol. 66 Issue 4, p557-561, 5p

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المؤلفون: Le Marne FA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia., Briggs N; Stats Central, Mark Wainwright Analytical Centre, University of New South Wales, Kensington, New South Wales, Australia., Frith K; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Department of Immunology and Infectious Diseases, Sydney Children's Hospital, Sydney, New South Wales, Australia., Kariyawasam D; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia., McCarthy HJ; Department of Nephrology, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; Centre for Kidney Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Nunn K; Department of Psychological Medicine, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Rao A; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Emergency Department, Sydney Children's Hospital, Sydney, New South Wales, Australia., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Sarkozy V; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Tumbatin, Sydney Children's Hospital, Sydney, New South Wales, Australia., Teng A; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Department of Sleep Medicine, Sydney Children's Hospital, Sydney, New South Wales, Australia., Trethewie S; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Department of Palliative Care, Sydney Children's Hospital, Sydney, New South Wales, Australia., Williams GD; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.; Intensive Care Unit, Sydney Children's Hospital, Sydney, New South Wales, Australia., Bye AM; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Discipline of Paediatrics, University of New South Wales, Sydney, New South Wales, Australia.

المصدر: Journal of paediatrics and child health [J Paediatr Child Health] 2023 Feb; Vol. 59 (2), pp. 307-318. Date of Electronic Publication: 2022 Dec 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

مواضيع طبية MeSH: Learning* , Health Personnel*/education, Humans ; Child ; Australia ; Surveys and Questionnaires ; Pediatricians

المؤلفون: Le Marne FA; Neurology Department, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Discipline of Paediatrics, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia., Stephens LM; Department of Paediatrics, Bunbury Hospital, Western Australia Country Health Service - South West, Bunbury, Western Australia, Australia.; University of Western Australia Rural Clinical School, Nedlands, Western Australia, Australia., Kranzusch K; Western Australia Country Health Service - Kimberley Region, Broome, Western Australia, Australia., Gunaratne PC; Department of Paediatrics, Kalgoorlie Health Campus, Kalgoorlie, Western Australia, Australia., Ryan PJ; Townsville University Hospital, Townsville, Queensland, Australia.; James Cook University College of Medicine and Dentistry, Townsville, Queensland, Australia., Archer ND; Department of Paediatrics, Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia.; James Cook University College of Medicine and Dentistry, Cairns, Queensland, Australia., Beggs S; Royal Hobart Hospital, Hobart, Tasmania, Australia.; University of Tasmania School of Medicine, Hobart, Tasmania, Australia., Balasooriya C; School of Population Health, Faculty of Medicine and Health, University of New South Wales, New South Wales, Sydney, Australia., Bye AM; Neurology Department, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Discipline of Paediatrics, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.

المصدر: Journal of paediatrics and child health [J Paediatr Child Health] 2023 Jan; Vol. 59 (1), pp. 134-143. Date of Electronic Publication: 2022 Nov 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: Australia NLM ID: 9005421 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1440-1754 (Electronic) Linking ISSN: 10344810 NLM ISO Abbreviation: J Paediatr Child Health Subsets: MEDLINE

مواضيع طبية MeSH: Learning* , Pediatricians*, Child ; Humans ; Australia ; Longitudinal Studies ; Program Evaluation