{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:40Z","timestamp":1761718120577},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,11,19]],"date-time":"2009-11-19T00:00:00Z","timestamp":1258588800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2010,4]]},"DOI":"10.1007\/s00415-009-5380-3","type":"journal-article","created":{"date-parts":[[2009,11,19]],"date-time":"2009-11-19T00:33:34Z","timestamp":1258590814000},"page":"598-602","source":"Crossref","is-referenced-by-count":14,"title":["The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia"],"prefix":"10.1007","volume":"257","author":[{"given":"Pia Irene Anna","family":"Rossi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlotta Maria","family":"Vaccari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Terracciano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Doria-Lamba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Facchinetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Priolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ayuso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Jorge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Gimelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Ravazzolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldamaria","family":"Puliti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,11,19]]},"reference":[{"key":"5380_CR1","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/0092-8674(94)90204-6","volume":"79","author":"A Aiba","year":"1994","unstructured":"Aiba A, Kano M, Chen C, Stanton ME, Fox GD, Herrup K, Zwingman TA, Tonegawa S (1994) Deficient cerebellar long-term depression and impaired motor learning in mGluR1 mutant mice. Cell 79:377\u2013388","journal-title":"Cell"},{"key":"5380_CR2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.neures.2007.01.009","volume":"58","author":"A Aiba","year":"2007","unstructured":"Aiba A, Nakao H (2007) Conditional mutant mice using tetracycline-controlled gene expression system in the brain. Neurosci Res 58:113\u2013117","journal-title":"Neurosci Res"},{"key":"5380_CR3","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/ana.10451","volume":"53","author":"M Coesmans","year":"2003","unstructured":"Coesmans M, Smitt PA, Linden DJ, Shigemoto R, Hirano T, Yamakawa Y, van Alphen AM, Luo C, van der Geest JN, Kros JM, Gaillard CA, Frens MA, de Zeeuw CI (2003) Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies. Ann Neurol 53:325\u2013336","journal-title":"Ann Neurol"},{"key":"5380_CR4","first-page":"593","volume":"18","author":"V Conti","year":"2006","unstructured":"Conti V, Aghaie A, Cilli M, Martin N, Caridi G, Musante L, Candiano G, Castagna M, Fairen A, Ravazzolo R, Guenet JL, Puliti A (2006) crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1). Int J Mol Med 18:593\u2013600","journal-title":"Int J Mol Med"},{"key":"5380_CR5","first-page":"913","volume":"251","author":"G Michele De","year":"2004","unstructured":"De Michele G, Coppola G, Cocozza S, Filla A (2004) A pathogenetic classification of hereditary ataxias: is the time ripe? J Neurol 251:913\u2013922","journal-title":"J Neurol"},{"key":"5380_CR6","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1016\/j.bcp.2008.12.003","volume":"77","author":"PM Downey","year":"2009","unstructured":"Downey PM, Petro R, Simon JS, Devlin D, Lozza G, Veltri A, Beltramo M, Bertorelli R, Reggiani A (2009) Identification of single nucleotide polymorphisms of the human metabotropic glutamate receptor 1 gene and pharmacological characterization of a P993S variant. Biochem Pharmacol 77:1246\u20131253","journal-title":"Biochem Pharmacol"},{"key":"5380_CR7","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1124\/pr.108.000166","volume":"60","author":"F Ferraguti","year":"2008","unstructured":"Ferraguti F, Crepaldi L, Nicoletti F (2008) Metabotropic glutamate 1 receptor: current concepts and perspectives. Pharmacol Rev 60:536\u2013581","journal-title":"Pharmacol Rev"},{"key":"5380_CR8","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1007\/s00441-006-0266-5","volume":"326","author":"F Ferraguti","year":"2006","unstructured":"Ferraguti F, Shigemoto R (2006) Metabotropic glutamate receptors. Cell Tissue Res 326:483\u2013504","journal-title":"Cell Tissue Res"},{"key":"5380_CR9","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1126\/science.288.5472.1832","volume":"288","author":"T Ichise","year":"2000","unstructured":"Ichise T, Kano M, Hashimoto K, Yanagihara D, Nakao K, Shigemoto R, Katsuki M, Aiba A (2000) mGluR1 in cerebellar Purkinje cells essential for long-term depression, synapse elimination, and motor coordination. Science 288:1832\u20131835","journal-title":"Science"},{"key":"5380_CR10","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.cell.2006.03.032","volume":"125","author":"J Lim","year":"2006","unstructured":"Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabasi AL, Vidal M, Zoghbi HY (2006) A protein\u2013protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 125:801\u2013814","journal-title":"Cell"},{"key":"5380_CR11","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","volume":"25","author":"KJ Livak","year":"2001","unstructured":"Livak KJ, Schmittgen TD (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods 25:402\u2013408","journal-title":"Methods"},{"key":"5380_CR12","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00415-005-0814-z","volume":"252","author":"C Mariotti","year":"2005","unstructured":"Mariotti C, Fancellu R, Di Donato S (2005) An overview of the patient with ataxia. J Neurol 252:511\u2013518","journal-title":"J Neurol"},{"key":"5380_CR13","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.neuropharm.2008.06.056","volume":"55","author":"V Musante","year":"2008","unstructured":"Musante V, Neri E, Feligioni M, Puliti A, Pedrazzi M, Conti V, Usai C, Diaspro A, Ravazzolo R, Henley JM, Battaglia G, Pittaluga A (2008) Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings. Neuropharmacology 55:474\u2013482","journal-title":"Neuropharmacology"},{"key":"5380_CR14","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","volume":"31","author":"PC Ng","year":"2003","unstructured":"Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31:3812\u20133814","journal-title":"Nucleic Acids Res"},{"key":"5380_CR15","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/s00439-008-0545-1","volume":"124","author":"W Pan","year":"2008","unstructured":"Pan W (2008) Network-based model weighting to detect multiple loci influencing complex diseases. Hum Genet 124:225\u2013234","journal-title":"Hum Genet"},{"key":"5380_CR16","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.2307\/2533494","volume":"53","author":"PD Sasieni","year":"1997","unstructured":"Sasieni PD (1997) From genotypes to genes: doubling the sample size. Biometrics 53:1253\u20131261","journal-title":"Biometrics"},{"key":"5380_CR17","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/S0168-0102(01)00308-X","volume":"42","author":"F Shutoh","year":"2002","unstructured":"Shutoh F, Katoh A, Kitazawa H, Aiba A, Itohara S, Nagao S (2002) Loss of adaptability of horizontal optokinetic response eye movements in mGluR1 knockout mice. Neurosci Res 42:141\u2013145","journal-title":"Neurosci Res"},{"key":"5380_CR18","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJM200001063420104","volume":"342","author":"P Sillevis Smitt","year":"2000","unstructured":"Sillevis Smitt P, Kinoshita A, De Leeuw B, Moll W, Coesmans M, Jaarsma D, Henzen-Logmans S, Vecht C, De Zeeuw C, Sekiyama N, Nakanishi S, Shigemoto R (2000) Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N Engl J Med 342:21\u201327","journal-title":"N Engl J Med"},{"key":"5380_CR19","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1086\/428594","volume":"76","author":"M Stephens","year":"2005","unstructured":"Stephens M, Scheet P (2005) Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet 76:449\u2013462","journal-title":"Am J Hum Genet"},{"key":"5380_CR20","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/319501","volume":"68","author":"M Stephens","year":"2001","unstructured":"Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978\u2013989","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-5380-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00415-009-5380-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-009-5380-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T19:12:54Z","timestamp":1559070774000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00415-009-5380-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,19]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["5380"],"URL":"https:\/\/doi.org\/10.1007\/s00415-009-5380-3","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,19]]}}}