المؤلفون: Lemke JR; Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland., Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S

المصدر: Nature genetics [Nat Genet] 2013 Sep; Vol. 45 (9), pp. 1067-72. Date of Electronic Publication: 2013 Aug 11.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Epilepsies, Partial/*genetics , Receptors, N-Methyl-D-Aspartate/*genetics, Amino Acid Substitution ; Epilepsies, Partial/diagnosis ; Female ; Humans ; Male ; Models, Molecular ; Mutation, Missense ; Pedigree ; Protein Conformation ; Receptors, N-Methyl-D-Aspartate/chemistry ; Receptors, N-Methyl-D-Aspartate/metabolism

المؤلفون: Shoubridge C; Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. cheryl.shoubridge@adelaide.edu.au, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J

المصدر: Nature genetics [Nat Genet] 2010 Jun; Vol. 42 (6), pp. 486-8. Date of Electronic Publication: 2010 May 16.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Guanine Nucleotide Exchange Factors/*genetics , Mental Retardation, X-Linked/*genetics, Chromosomes, Human, X ; Female ; Humans ; Male ; Pedigree

المؤلفون: Charlier C; Unit of Animal Genomics, GIGA-Research and Department of Animal Sciences, Faculty of Veterinary Medicine, University of Liège (B34), 1 Avenue de l'Hôpital, 4000 Liège, Belgium., Coppieters W, Rollin F, Desmecht D, Agerholm JS, Cambisano N, Carta E, Dardano S, Dive M, Fasquelle C, Frennet JC, Hanset R, Hubin X, Jorgensen C, Karim L, Kent M, Harvey K, Pearce BR, Simon P, Tama N, Nie H, Vandeputte S, Lien S, Longeri M, Fredholm M, Harvey RJ, Georges M

المصدر: Nature genetics [Nat Genet] 2008 Apr; Vol. 40 (4), pp. 449-54. Date of Electronic Publication: 2008 Mar 16.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Mapping*, Animals, Domestic/*genetics , Cattle Diseases/*genetics , Genes, Recessive/*genetics , Genetic Markers/*genetics , Polymorphism, Single Nucleotide/*genetics, ATP-Binding Cassette Transporters/genetics ; Amino Acid Sequence ; Animals ; Animals, Domestic/growth & development ; Breeding ; Cattle ; Cells, Cultured ; DNA Primers/chemistry ; Dystonia/congenital ; Dystonia/genetics ; Dystonia/veterinary ; Female ; Gene Expression Profiling ; Genetic Linkage ; Glycine Plasma Membrane Transport Proteins/genetics ; Humans ; Male ; Molecular Sequence Data ; Oligonucleotide Array Sequence Analysis ; Phenotype ; Quantitative Trait Loci ; Sarcoplasmic Reticulum Calcium-Transporting ATPases/genetics ; Sequence Homology, Amino Acid

المؤلفون: Rees MI; School of Medicine, University of Wales Swansea, Singleton Park, West Glamorgan SA2 8PP, UK. m.i.rees@swansea.ac.uk, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ

المصدر: Nature genetics [Nat Genet] 2006 Jul; Vol. 38 (7), pp. 801-6. Date of Electronic Publication: 2006 Jun 04.

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

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1061-4036 (Print) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Glycine Plasma Membrane Transport Proteins/*genetics , Reflex, Startle/*genetics, Amino Acid Sequence ; Amino Acid Substitution ; Animals ; Cell Line ; Female ; Glycine Plasma Membrane Transport Proteins/chemistry ; Glycine Plasma Membrane Transport Proteins/physiology ; Humans ; In Vitro Techniques ; Infant, Newborn ; Male ; Models, Molecular ; Molecular Sequence Data ; Oocytes/metabolism ; Presynaptic Terminals/physiology ; Protein Structure, Tertiary ; Recombinant Fusion Proteins/genetics ; Recombinant Fusion Proteins/metabolism ; Reflex, Startle/physiology ; Transfection ; Xenopus laevis