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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: kabzinska d. Neurol Neurochir Pol. 2007 Jul-Aug;41(4):350-4. Neurol Neurochir Pol. 2007. PMID: 17874344 Review. 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. Among authors: kabzinska d. Neurol Neurochir Pol. 2002 Nov-Dec;36(6):1087-94. Neurol Neurochir Pol. 2002. PMID: 12715686 Polish.
Somatic mosaicism in Charcot-Marie-Tooth type X disease.
Kochanski A, Nowakowski A, Kawulak M, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. 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. Among authors: kabzinska d. 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. Among authors: kabzinska d. 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. Among authors: kabzinska d. Neuromuscul Disord. 2004 Mar;14(3):229-32. doi: 10.1016/j.nmd.2003.12.001. Neuromuscul Disord. 2004. PMID: 15036333
Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I. Kochański A, et al. Among authors: kabzinska d. Eur J Paediatr Neurol. 2004;8(4):221-4. doi: 10.1016/j.ejpn.2004.04.001. Eur J Paediatr Neurol. 2004. PMID: 15261887
[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report].
Dorobek M, Kabzińska D, Ryniewicz B, Fidziańska-Dolot A, Hausmanowa-Petrusewicz I. Dorobek M, et al. Among authors: kabzinska d. Neurol Neurochir Pol. 2004 Mar-Apr;38(2):83-8. Neurol Neurochir Pol. 2004. PMID: 15307599 Polish.
De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Kochański A, Kabzińska D. Kochański A, et al. Among authors: kabzinska d. Acta Biochim Pol. 2004;51(4):1047-50. Acta Biochim Pol. 2004. PMID: 15625576
Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I. Kabzińska D, et al. Neuropediatrics. 2005 Jun;36(3):206-9. doi: 10.1055/s-2005-865606. Neuropediatrics. 2005. PMID: 15944907
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