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Page 1
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: fischbeck kh. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.
Linkage localization of X-linked Charcot-Marie-Tooth disease.
Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Bergoffen J, et al. Among authors: fischbeck kh. Am J Hum Genet. 1993 Feb;52(2):312-8. Am J Hum Genet. 1993. PMID: 8430694 Free PMC article.
Androgen receptor mutation in Kennedy's disease.
Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Fischbeck KH, et al. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1075-8. doi: 10.1098/rstb.1999.0461. Philos Trans R Soc Lond B Biol Sci. 1999. PMID: 10434308 Free PMC article. Review.
Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Bergoffen J, et al. Among authors: fischbeck kh. Science. 1993 Dec 24;262(5142):2039-42. doi: 10.1126/science.8266101. Science. 1993. PMID: 8266101
Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.
Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: fischbeck kh. Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753178 Free PMC article.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: fischbeck kh. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
259 results