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Page 1
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. Among authors: chen kl. 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.
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. 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.
Nucleocytoplasmic transport defect in a North American patient with ALS8.
Guber RD, Schindler AB, Budron MS, Chen KL, Li Y, Fischbeck KH, Grunseich C. Guber RD, et al. Among authors: chen kl. Ann Clin Transl Neurol. 2018 Feb 4;5(3):369-375. doi: 10.1002/acn3.515. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560381 Free PMC article.
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters.
Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG. Grunseich C, et al. Mol Cell. 2018 Feb 1;69(3):426-437.e7. doi: 10.1016/j.molcel.2017.12.030. Epub 2018 Jan 27. Mol Cell. 2018. PMID: 29395064 Free PMC article.
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: chen kl. JAMA Neurol. 2015 May;72(5):561-70. doi: 10.1001/jamaneurol.2014.4769. JAMA Neurol. 2015. PMID: 25751282 Free PMC article.
Ataxin 1 and ataxin 3 in neuronal intranuclear inclusion disease.
Lieberman AP, Trojanowski JQ, Leonard DG, Chen KL, Barnett JL, Leverenz JB, Bird TD, Robitaille Y, Malandrini A, Fischbeck KH. Lieberman AP, et al. Among authors: chen kl. Ann Neurol. 1999 Aug;46(2):271-3. doi: 10.1002/1531-8249(199908)46:2<271::aid-ana21>3.0.co;2-m. Ann Neurol. 1999. PMID: 10443897
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
Guinto CO, Diarra S, Diallo S, Cissé L, Coulibaly T, Diallo SH, Taméga A, Chen KL, Schindler AB, Bagayoko K, Simaga A, Blackstone C, Fischbeck KH, Landouré G. Guinto CO, et al. Among authors: chen kl. Ann Clin Transl Neurol. 2017 Mar 21;4(4):272-275. doi: 10.1002/acn3.402. eCollection 2017 Apr. Ann Clin Transl Neurol. 2017. PMID: 28382308 Free PMC article.
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients.
Grunseich C, Zukosky K, Kats IR, Ghosh L, Harmison GG, Bott LC, Rinaldi C, Chen KL, Chen G, Boehm M, Fischbeck KH. Grunseich C, et al. Among authors: chen kl, chen g. Neurobiol Dis. 2014 Oct;70:12-20. doi: 10.1016/j.nbd.2014.05.038. Epub 2014 Jun 9. Neurobiol Dis. 2014. PMID: 24925468 Free PMC article.
640 results