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Page 1
Calpain-3 mutations in Turkey.
Balci B, Aurino S, Haliloglu G, Talim B, Erdem S, Akcören Z, Tan E, Caglar M, Richard I, Nigro V, Topaloglu H, Dincer P. Balci B, et al. Among authors: richard i. Eur J Pediatr. 2006 May;165(5):293-8. doi: 10.1007/s00431-005-0046-3. Epub 2006 Jan 13. Eur J Pediatr. 2006. PMID: 16411092
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, Dinçer P, Lefranc G, Merlini L, Topaloglu H, Tomé FM, Cohen D, Jackson CE, Campbell KP, Fardeau M. Beckmann JS, et al. Among authors: richard i. Neuromuscul Disord. 1996 Dec;6(6):455-62. doi: 10.1016/s0960-8966(96)00386-0. Neuromuscul Disord. 1996. PMID: 9027855
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Richard I, et al. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.
Dinçer P, Leturcq F, Richard I, Piccolo F, Yalnizoglu D, de Toma C, Akçören Z, Broux O, Deburgrave N, Brenguier L, Roudaut C, Urtizberea JA, Jung D, Tan E, Jeanpierre M, Campbell KP, Kaplan JC, Beckmann JS, Topaloglu H. Dinçer P, et al. Among authors: richard i. Ann Neurol. 1997 Aug;42(2):222-9. doi: 10.1002/ana.410420214. Ann Neurol. 1997. PMID: 9266733
Calpain-3 deficiency causes a mild muscular dystrophy in childhood.
Topaloğlu H, Dinçer P, Richard I, Akçören Z, Alehan D, Ozme S, Cağlar M, Karaduman A, Urtizberea JA, Beckmann JS. Topaloğlu H, et al. Among authors: richard i. Neuropediatrics. 1997 Aug;28(4):212-6. doi: 10.1055/s-2007-973702. Neuropediatrics. 1997. PMID: 9309711
Calpainopathy-a survey of mutations and polymorphisms.
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.
398 results