Kochański A - Search Results

1

[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.

2

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.

3

Uncompacted myelin in hereditary neuropathy with liability to pressure palsies with the 17 p11.2 deletion.

Jedrzejowska H, Fidziańska A, Kochański A. Jedrzejowska H, et al. Among authors: kochanski a. Folia Neuropathol. 1999;37(4):220-6. Folia Neuropathol. 1999. PMID: 10705641

4

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.

5

[The role of molecular genetics in diagnosis of hereditary motor-sensory neuropathy].

Kochański A, Jedrzejowska H, Ryniewicz B, Budny B. Kochański A, et al. Neurol Neurochir Pol. 2000 Sep-Oct;34(5):947-58. Neurol Neurochir Pol. 2000. PMID: 11253483 Review. Polish.

6

[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.

7

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

8

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.

9

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.

10

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

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