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86 results
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[Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease].
Sołtysińska E, Kabzińska D, Kochański A. Sołtysińska E, et al. Among authors: kochanski a. Neurol Neurochir Pol. 2007 Jul-Aug;41(4):350-4. Neurol Neurochir Pol. 2007. PMID: 17874344 Review. Polish.
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.
[Genotype-phenotype correlation in hereditary motor-sensory neuropathy type IA associated with duplication in chromosome 17p11.2-12].
Ryniewicz B, Jedrzejowska H, Kochański A. Ryniewicz B, et al. Among authors: kochanski a. Neurol Neurochir Pol. 2000 Nov-Dec;34(6):1145-53. Neurol Neurochir Pol. 2000. PMID: 11317491 Polish.
[Charcot-Marie Tooth type X (CMTX) disease: clinical and genetic characteristics of eleven patients].
Kochański A, Ryniewicz B, Jedrzejowska H, Kabzińska D. Kochański A, et al. Neurol Neurochir Pol. 2002 Nov-Dec;36(6):1087-94. Neurol Neurochir Pol. 2002. PMID: 12715686 Polish.
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Kochański A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I. Kochański A, et al. Eur J Neurol. 2003 Sep;10(5):547-9. doi: 10.1046/j.1468-1331.2003.00640.x. Eur J Neurol. 2003. PMID: 12940837
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.
An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.
Kochanski A, Kabzinska D, Nowakowski A, Drac H, Hausmanowa-Petrusewicz I. Kochanski A, et al. J Peripher Nerv Syst. 2004 Mar;9(1):1-2. doi: 10.1111/j.1085-9489.2004.09101.x. J Peripher Nerv Syst. 2004. PMID: 14871447 No abstract available.
Molecular genetic analysis of the GJB1 gene: a study of six mutations.
Kochański A, Kabzińska D. Kochański A, et al. J Appl Genet. 2004;45(1):95-100. J Appl Genet. 2004. PMID: 14960772
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Neuromuscul Disord. 2004 Mar;14(3):229-32. doi: 10.1016/j.nmd.2003.12.001. Neuromuscul Disord. 2004. PMID: 15036333
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