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: Whitelaw, CM, Anwar, S, Ades, LC, Gole, GA, Elder, JE, Savarirayan, R

المساهمون: Faculteit Medische Wetenschappen/UMCG

المصدر: American Journal of Medical Genetics. Part A, 128A(4), 418-421. Wiley

مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Marfan syndrome, congenital glaucoma, FIBRILLIN, fungi, FBN1, primary trabeculodysgenesis, GENE, MUTATION, GENOMIC ORGANIZATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::a91f5dff41e205913e2af1b41722707d
https://research.rug.nl/en/publications/d4d0c303-8084-44bd-b925-eb1135630b08

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المؤلفون: Whitelaw CM; College of Medical, Veterinary and Life Sciences, Institute of Biodiversity, Animal Health and Comparative Medicine, University of Glasgow, Glasgow G61 1QH, UK., Robinson JE, Hastie PM, Padmanabhan V, Evans NP

المصدر: The Journal of endocrinology [J Endocrinol] 2012 Mar; Vol. 212 (3), pp. 353-61. Date of Electronic Publication: 2011 Dec 12.

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

بيانات الدورية: Publisher: BioScientifica Country of Publication: England NLM ID: 0375363 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1479-6805 (Electronic) Linking ISSN: 00220795 NLM ISO Abbreviation: J Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Estrous Cycle/*metabolism , Galanin/*genetics , Gonadotropin-Releasing Hormone/*genetics , Hypothalamus/*metabolism , Receptors, Galanin/*genetics , Sheep/*metabolism, Animals ; Arcuate Nucleus of Hypothalamus/metabolism ; Estradiol/physiology ; Estrus Synchronization ; Feedback, Physiological ; Female ; Follicular Phase/metabolism ; Gene Expression ; Hypothalamus/chemistry ; Luteal Phase/metabolism ; Paraventricular Hypothalamic Nucleus/metabolism ; Preoptic Area/metabolism ; Progesterone/physiology ; RNA, Messenger/analysis ; Receptor, Galanin, Type 1/genetics ; Receptor, Galanin, Type 2/genetics ; Receptor, Galanin, Type 3/metabolism ; Receptors, LHRH/genetics

المؤلفون: Bellingham M; Division of Cell Sciences, Institute of Comparative Medicine, Faculty of Veterinary Medicine, University of Glasgow, UK., Fowler PA, Amezaga MR, Whitelaw CM, Rhind SM, Cotinot C, Mandon-Pepin B, Sharpe RM, Evans NP

المصدر: Journal of neuroendocrinology [J Neuroendocrinol] 2010 Jun; Vol. 22 (6), pp. 527-33. Date of Electronic Publication: 2010 Mar 02.

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

بيانات الدورية: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2826 (Electronic) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Sewage*, Endocrine Disruptors/*toxicity , Galanin/*metabolism , Gonadotropin-Releasing Hormone/*metabolism , Hypothalamus/*drug effects , Pituitary Gland/*drug effects , Sheep/*embryology, Animals ; Base Sequence ; DNA Primers ; Female ; Galanin/genetics ; Gonadotropin-Releasing Hormone/genetics ; Hypothalamus/metabolism ; Maternal Exposure ; Pituitary Gland/metabolism ; Polymerase Chain Reaction ; Pregnancy ; RNA, Messenger/genetics

المؤلفون: Whitelaw CM; Division of Cell Sciences, Faculty of Veterinary Medicine, Institute of Comparative Medicine, University of Glasgow, Glasgow, UK., Robinson JE, Chambers GB, Hastie P, Padmanabhan V, Thompson RC, Evans NP

المصدر: Reproduction (Cambridge, England) [Reproduction] 2009 Jan; Vol. 137 (1), pp. 141-50. Date of Electronic Publication: 2008 Oct 01.

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

بيانات الدورية: Publisher: Published for the Society for Reproduction and Fertility by BioScientifica Country of Publication: England NLM ID: 100966036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-7899 (Electronic) Linking ISSN: 14701626 NLM ISO Abbreviation: Reproduction Subsets: MEDLINE

مواضيع طبية MeSH: Galanin/*genetics , Galanin-Like Peptide/*genetics , Hypothalamus/*metabolism , Pituitary Gland/*metabolism , Receptors, Galanin/*genetics , Sheep/*genetics, Aging/metabolism ; Animals ; Female ; Gender Identity ; Gene Expression ; Male ; RNA, Messenger/analysis ; Receptor, Galanin, Type 1/genetics ; Receptor, Galanin, Type 2/genetics ; Receptor, Galanin, Type 3/genetics ; Receptors, Galanin/metabolism ; Reverse Transcriptase Polymerase Chain Reaction/methods ; Sheep/embryology ; Sheep/metabolism

المؤلفون: Chambers G; Division of Cell Sciences, Institute of Comparative Medicine, Faculty of Veterinary Medicine, University of Glasgow, UK., Whitelaw CM, Robinson JE, Evans NP

المصدر: Journal of neuroendocrinology [J Neuroendocrinol] 2007 Dec; Vol. 19 (12), pp. 966-73.

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

بيانات الدورية: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print Cited Medium: Print ISSN: 0953-8194 (Print) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Gonadotropin-Releasing Hormone/*metabolism , Hypothalamus/*metabolism , Neurons/*metabolism , Receptor, Galanin, Type 2/*metabolism, Animals ; Estrogen Receptor alpha/metabolism ; Estrogen Receptor alpha/physiology ; Estrous Cycle/physiology ; Female ; Fluorescent Antibody Technique, Indirect ; Gonadotropin-Releasing Hormone/biosynthesis ; Hypothalamus/cytology ; Immunohistochemistry ; Receptor, Galanin, Type 2/biosynthesis ; Sheep