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Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Rinaldi C, et al. Among authors: grunseich c. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. Am J Hum Genet. 2012. PMID: 23217327 Free PMC article.
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH. Sangaré M, et al. Among authors: grunseich c. Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2. Ann Neurol. 2014. PMID: 24515897 Free PMC article.
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Meilleur KG, et al. Among authors: grunseich c. Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25307854 Free PMC article.
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency.
Grunseich C, Schindler AB, Chen KL, Bakar D, Mankodi A, Traslavina R, Ray-Chaudhury A, Lehky TJ, Baker EH, Maragakis NJ, Tifft CJ, Fischbeck KH. Grunseich C, et al. J Neurol. 2015;262(4):1066-8. doi: 10.1007/s00415-015-7683-x. Epub 2015 Mar 4. J Neurol. 2015. PMID: 25736553 Free PMC article. No abstract available.
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
Rinaldi C, Schmidt T, Situ AJ, Johnson JO, Lee PR, Chen KL, Bott LC, Fadó R, Harmison GH, Parodi S, Grunseich C, Renvoisé B, Biesecker LG, De Michele G, Santorelli FM, Filla A, Stevanin G, Dürr A, Brice A, Casals N, Traynor BJ, Blackstone C, Ulmer TS, Fischbeck KH. Rinaldi C, et al. Among authors: grunseich c. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. JAMA Neurol. 2015. PMID: 25751282 Free PMC article.
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study.
Hashizume A, Katsuno M, Suzuki K, Banno H, Suga N, Mano T, Araki A, Hijikata Y, Grunseich C, Kokkinis A, Hirakawa A, Watanabe H, Yamamoto M, Fischbeck KH, Sobue G. Hashizume A, et al. Among authors: grunseich c. Neuromuscul Disord. 2015 Jul;25(7):554-62. doi: 10.1016/j.nmd.2015.03.008. Epub 2015 Mar 20. Neuromuscul Disord. 2015. PMID: 25913211 Free PMC article.
67 results