De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Autor: 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

Publikováno v: Nature Genetics, 44(9), 1030
Nature genetics

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology. We used exom

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Effects of cycle stage on regionalised galanin, galanin receptors 1-3, GNRH and GNRH receptor mRNA expression in the ovine hypothalamus.

Autor: 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

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

Expression of mRNA for galanin, galanin-like peptide and galanin receptors 1-3 in the ovine hypothalamus and pituitary gland: effects of age and gender.

Autor: 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

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