Ringelstein B - Search Results

1

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V. Meulemann J, et al. Among authors: ringelstein b. Eur J Hum Genet. 1999 Dec;7(8):920-7. doi: 10.1038/sj.ejhg.5200384. Eur J Hum Genet. 1999. PMID: 10602368

2

A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.

Kuhlenbäumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stögbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V. Kuhlenbäumer G, et al. Among authors: ringelstein b. Genomics. 1999 Dec 1;62(2):242-50. doi: 10.1006/geno.1999.5991. Genomics. 1999. PMID: 10610718

3

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.

Hünermund G, Schirmacher A, Ringelstein B, Young P, Watts GD, Meuleman J, Nelis E, Chance PF, Timmerman V, Stögbauer F, Kuhlenbäumer G. Hünermund G, et al. Among authors: ringelstein b. Muscle Nerve. 2004 Apr;29(4):601-4. doi: 10.1002/mus.20009. Muscle Nerve. 2004. PMID: 15052627

4

Four frequently observed polymorphisms in the 3'-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes.

Young P, Wiebusch H, Stögbauer F, Ringelstein B, Assmann G, Funke H. Young P, et al. Among authors: ringelstein b. Clin Genet. 1996 Jun;49(6):321-2. doi: 10.1111/j.1399-0004.1996.tb03799.x. Clin Genet. 1996. PMID: 8884085 No abstract available.

5

Clinical features and molecular genetics of hereditary peripheral neuropathies.

Kuhlenbäumer G, Young P, Hünermund G, Ringelstein B, Stögbauer F. Kuhlenbäumer G, et al. Among authors: ringelstein b. J Neurol. 2002 Dec;249(12):1629-50. doi: 10.1007/s00415-002-0946-3. J Neurol. 2002. PMID: 12529785 Review.

6

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F. Kuhlenbäumer G, et al. Among authors: ringelstein b. Neurology. 2002 Apr 23;58(8):1273-6. doi: 10.1212/wnl.58.8.1273. Neurology. 2002. PMID: 11971098

7

A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.

Young P, Wiebusch H, Stögbauer F, Ringelstein B, Assmann G, Funke H. Young P, et al. Among authors: ringelstein b. Neurology. 1997 Feb;48(2):450-2. doi: 10.1212/wnl.48.2.450. Neurology. 1997. PMID: 9040737

8

Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.

Koop O, Timmerman V, de Jonghe P, Ringelstein B, Young P, Kuhlenbäumer G. Koop O, et al. Among authors: ringelstein b. Neuromuscul Disord. 2005 Aug;15(8):549-51. doi: 10.1016/j.nmd.2005.06.007. Neuromuscul Disord. 2005. PMID: 16009550

9

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Among authors: ringelstein b. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580

10

Erratum to: Kinetics of 3-[(123)I]iodo-L-α-methyltyrosine transport in rat C6 glioma cells.

Riemann B, Stögbauer F, Kopka K, Halfter H, Lasic M, Schirmacher A, Kuwert T, Weckesser M, Ringelstein BE, Schober O. Riemann B, et al. Among authors: ringelstein be. Eur J Nucl Med. 2000 Dec;27(12):1870. doi: 10.1007/s002590000422. Eur J Nucl Med. 2000. PMID: 24578011 No abstract available.

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