Mazanec R - Search Results

1

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.

Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, Li J. Bai Y, et al. Among authors: mazanec r. Arch Neurol. 2006 Dec;63(12):1787-94. doi: 10.1001/archneur.63.12.1787. Arch Neurol. 2006. PMID: 17172621

2

Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype.

Seeman P, Mazanec R, Marikova T, Rautenstrauss B. Seeman P, et al. Among authors: mazanec r. Ann N Y Acad Sci. 1999 Sep 14;883:485-9. Ann N Y Acad Sci. 1999. PMID: 10586280 No abstract available.

3

Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.

Seeman P, Mazanec R, Zidar J, Hrusáková S, Ctvrtecková M, Rautenstrauss B. Seeman P, et al. Among authors: mazanec r. Int J Mol Med. 2000 Oct;6(4):421-6. doi: 10.3892/ijmm.6.4.421. Int J Mol Med. 2000. PMID: 10998431

4

Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.

Seeman P, Mazanec R, Ctvrtecková M, Smilková D. Seeman P, et al. Among authors: mazanec r. Int J Mol Med. 2001 Oct;8(4):461-8. Int J Mol Med. 2001. PMID: 11562788

5

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. Bennett CL, et al. Among authors: mazanec r. Ann Neurol. 2004 May;55(5):713-20. doi: 10.1002/ana.20094. Ann Neurol. 2004. PMID: 15122712

6

Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.

Seeman P, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B. Seeman P, et al. Among authors: mazanec r. Neurology. 2004 Aug 24;63(4):733-5. doi: 10.1212/01.wnl.0000134605.61307.de. Neurology. 2004. PMID: 15326256

7

Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.

Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P. Mikesová E, et al. Among authors: mazanec r. Neuromuscul Disord. 2005 Nov;15(11):764-7. doi: 10.1016/j.nmd.2005.08.001. Epub 2005 Sep 29. Neuromuscul Disord. 2005. PMID: 16198564

8

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: mazanec r. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318

9

GDAP1 mutations in Czech families with early-onset CMT.

Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P. Baránková L, et al. Among authors: mazanec r. Neuromuscul Disord. 2007 Jun;17(6):482-9. doi: 10.1016/j.nmd.2007.02.010. Epub 2007 Apr 11. Neuromuscul Disord. 2007. PMID: 17433678

10

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy.

Vondracek P, Hermanova M, Sedlackova J, Fajkusova L, Stary D, Michenkova A, Gaillyova R, Seeman P, Mazanec R. Vondracek P, et al. Among authors: mazanec r. Eur J Neurol. 2007 Oct;14(10):1182-5. doi: 10.1111/j.1468-1331.2007.01917.x. Eur J Neurol. 2007. PMID: 17880576

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