{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T12:29:47Z","timestamp":1790944187506,"version":"4.1.0"},"reference-count":11,"publisher":"EDP Sciences","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2010,3]]},"DOI":"10.1051\/medsci\/2010263241","type":"journal-article","created":{"date-parts":[[2011,3,5]],"date-time":"2011-03-05T01:08:37Z","timestamp":1299287317000},"page":"241-244","source":"Crossref","is-referenced-by-count":2,"title":["<i>TRPM1<\/i>, un nouveau g\u00e8ne impliqu\u00e9 dans la c\u00e9cit\u00e9 nocturne cong\u00e9nitale stationnaire"],"prefix":"10.1051","volume":"26","author":[{"given":"Isabelle","family":"Audo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shomi","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2010,3,15]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","unstructured":"Audo I, Kohl S, Leroy BP,et al.TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Am J Hum Genet2009; 85 : 720\u20139.","DOI":"10.1016\/j.ajhg.2009.10.013"},{"key":"R2","doi-asserted-by":"crossref","unstructured":"Li Z, Sergouniotis PI, Michaelides M,et al.Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.Am J Hum Genet2009; 85 : 711\u20139.","DOI":"10.1016\/j.ajhg.2009.10.003"},{"key":"R3","doi-asserted-by":"crossref","unstructured":"van Genderen MM, Bijveld MM, Claassen YB,et al.Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.Am J Hum Genet2009; 85 : 730\u20136.","DOI":"10.1016\/j.ajhg.2009.10.012"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Audo I, Robson AG, Holder GE, Moore AT. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.Survey Ophthalmol2008; 53 : 16\u201340.","DOI":"10.1016\/j.survophthal.2007.10.010"},{"key":"R5","doi-asserted-by":"crossref","unstructured":"Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification.Arch Ophthalmol1986; 104 : 1013\u201320.","DOI":"10.1001\/archopht.1986.01050190071042"},{"key":"R6","doi-asserted-by":"crossref","unstructured":"Zeitz C. Molecular genetics and protein function involved in nocturnal vision.Expert Rev Ophthalmol2007; 2 : 467\u201385.","DOI":"10.1586\/17469899.2.3.467"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Zeitz C, Labs S, Lorenz B,et al.Genotyping microarray for CSNB-associated genes.Invest Ophthalmol Vis Sci2009; 50 : 5919\u201326.","DOI":"10.1167\/iovs.09-3548"},{"key":"R8","unstructured":"Witzel DA, Smith EL, Wilson RD, Aguirre GD. Congenital stationary night blindness: an animal model.Invest Ophthalmol Vis Sci1978; 17 : 788\u201395."},{"key":"R9","doi-asserted-by":"crossref","unstructured":"Sandmeyer LS, Breaux CB, Archer S, Grahn BH. Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex.Veterinary ophthalmology2007; 10 : 368\u2013375.","DOI":"10.1111\/j.1463-5224.2007.00572.x"},{"key":"R10","doi-asserted-by":"crossref","unstructured":"Bellone RR, Brooks SA, Sandmeyer L,et al.Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).Genetics2008; 179 : 1861\u201370.","DOI":"10.1534\/genetics.108.088807"},{"key":"R11","doi-asserted-by":"crossref","unstructured":"Clapham DE, Runnels LW, Strubing C. The TRP ion channel family.Nat Rev Neurosci2001; 2 : 387\u201396.","DOI":"10.1038\/35077544"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"http:\/\/www.medecinesciences.org\/10.1051\/medsci\/2010263241\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,8]],"date-time":"2019-06-08T20:41:33Z","timestamp":1560026493000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.medecinesciences.org\/10.1051\/medsci\/2010263241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3]]},"references-count":11,"journal-issue":{"issue":"3"},"alternative-id":["medsci2010263p241"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2010263241","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3]]}}}