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Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.
Mosbech MB, Olsen AS, Neess D, Ben-David O, Klitten LL, Larsen J, Sabers A, Vissing J, Nielsen JE, Hasholt L, Klein AD, Tsoory MM, Hjalgrim H, Tommerup N, Futerman AH, Møller RS, Færgeman NJ. Mosbech MB, et al. Among authors: nielsen je. Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. Ann Clin Transl Neurol. 2014. PMID: 25356388 Free PMC article.
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE. Svenstrup K, et al. Among authors: nielsen je. J Neurol Sci. 2009 Sep 15;284(1-2):90-5. doi: 10.1016/j.jns.2009.04.024. Epub 2009 May 6. J Neurol Sci. 2009. PMID: 19423133
Reduced gluconeogenesis and lactate clearance in Huntington's disease.
Josefsen K, Nielsen SM, Campos A, Seifert T, Hasholt L, Nielsen JE, Nørremølle A, Skotte NH, Secher NH, Quistorff B. Josefsen K, et al. Among authors: nielsen sm, nielsen je. Neurobiol Dis. 2010 Dec;40(3):656-62. doi: 10.1016/j.nbd.2010.08.009. Epub 2010 Aug 19. Neurobiol Dis. 2010. PMID: 20727971
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: nielsen je. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.
456 results