Ptácek LJ - Search Results

1

Genetic mapping of a locus (mass1) causing audiogenic seizures in mice.

Skradski SL, White HS, Ptácek LJ. Skradski SL, et al. Among authors: ptacek lj. Genomics. 1998 Apr 15;49(2):188-92. doi: 10.1006/geno.1998.5229. Genomics. 1998. PMID: 9598305

2

c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse.

Klein BD, Fu YH, Ptacek LJ, White HS. Klein BD, et al. Among authors: ptacek lj. Epilepsy Res. 2004 Nov;62(1):13-25. doi: 10.1016/j.eplepsyres.2004.06.007. Epilepsy Res. 2004. PMID: 15519128

3

Auditory deficits associated with the frings mgr1 (mass1) mutation in mice.

Klein BD, Fu YH, Ptacek LJ, White HS. Klein BD, et al. Among authors: ptacek lj. Dev Neurosci. 2005;27(5):321-32. doi: 10.1159/000086712. Dev Neurosci. 2005. PMID: 16137990

4

A novel gene causing a mendelian audiogenic mouse epilepsy.

Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. Skradski SL, et al. Among authors: ptacek lj. Neuron. 2001 Aug 30;31(4):537-44. doi: 10.1016/s0896-6273(01)00397-x. Neuron. 2001. PMID: 11545713 Free article.

5

A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies.

Meola G, Sansone V, Radice S, Skradski S, Ptacek L. Meola G, et al. Neuromuscul Disord. 1996 May;6(3):143-50. doi: 10.1016/0960-8966(95)00040-2. Neuromuscul Disord. 1996. PMID: 8784800 Free article.

6

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.

Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Plaster NM, et al. Among authors: ptacek lj. Neurology. 1999 Oct 12;53(6):1180-3. doi: 10.1212/wnl.53.6.1180. Neurology. 1999. PMID: 10522869

7

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. Johnson KR, et al. Among authors: ptacek lj. Genomics. 2005 May;85(5):582-90. doi: 10.1016/j.ygeno.2005.02.006. Genomics. 2005. PMID: 15820310 Free PMC article.

8

Localization of the giant axonal neuropathy gene to chromosome 16q24.

Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschütter A, Ranells J, Camfield PR, Ptácek LJ. Flanigan KM, et al. Among authors: ptacek lj. Ann Neurol. 1998 Jan;43(1):143-8. doi: 10.1002/ana.410430126. Ann Neurol. 1998. PMID: 9450783

9

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

Fouad GT, Servidei S, Durcan S, Bertini E, Ptácek LJ. Fouad GT, et al. Among authors: ptacek lj. Am J Hum Genet. 1996 Jul;59(1):135-9. Am J Hum Genet. 1996. PMID: 8659517 Free PMC article.

10

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptácek LJ, Fu YH. Coffeen CM, et al. Among authors: ptacek lj. Hum Mol Genet. 2000 Mar 22;9(5):787-93. doi: 10.1093/hmg/9.5.787. Hum Mol Genet. 2000. PMID: 10749986

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