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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: kochanski a. Neurology. 2011 Aug 9;77(6):540-8. doi: 10.1212/WNL.0b013e318228fc70. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753178 Free PMC article.
Mutation screening of Charcot-Marie-Tooth patients in Poland.
Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, Van Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I. Kochański A, et al. Ann N Y Acad Sci. 1999 Sep 14;883:493-6. Ann N Y Acad Sci. 1999. PMID: 10586282 No abstract available.
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A. Kochanski A, et al. Hum Mutat. 2001 Feb;17(2):157. doi: 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E. Hum Mutat. 2001. PMID: 11180613 No abstract available.
Somatic mosaicism in Charcot-Marie-Tooth type X disease.
Kochanski A, Nowakowski A, Kawulak M, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Neurology. 2004 Jan 27;62(2):336-7. doi: 10.1212/01.wnl.0000103441.52563.02. Neurology. 2004. PMID: 14745088 No abstract available.
95 results