Züchner S - Search Results

1

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Bademci G, Edwards TL, Torres AL, Scott WK, Züchner S, Martin ER, Vance JM, Wang L. Bademci G, et al. Among authors: zuchner s. Hum Mutat. 2010 Oct;31(10):E1767-71. doi: 10.1002/humu.21351. Hum Mutat. 2010. PMID: 20809526 Free PMC article.

2

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Züchner S, et al. Nat Genet. 2005 Mar;37(3):289-94. doi: 10.1038/ng1514. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731758

3

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.

Oliveira SA, Li YJ, Noureddine MA, Zuchner S, Qin X, Pericak-Vance MA, Vance JM. Oliveira SA, et al. Among authors: zuchner s. Am J Hum Genet. 2005 Aug;77(2):252-64. doi: 10.1086/432588. Epub 2005 Jun 28. Am J Hum Genet. 2005. PMID: 15986317 Free PMC article.

4

Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

Zhu D, Kennerson ML, Walizada G, Züchner S, Vance JM, Nicholson GA. Zhu D, et al. Among authors: zuchner s. Neurology. 2005 Aug 9;65(3):496-7. doi: 10.1212/01.wnl.0000171345.62270.29. Neurology. 2005. PMID: 16087932 No abstract available.

5

Emerging pathways for hereditary axonopathies.

Züchner S, Vance JM. Züchner S, et al. J Mol Med (Berl). 2005 Dec;83(12):935-43. doi: 10.1007/s00109-005-0694-9. Epub 2005 Aug 31. J Mol Med (Berl). 2005. PMID: 16133422 Review.

6

SNPselector: a web tool for selecting SNPs for genetic association studies.

Xu H, Gregory SG, Hauser ER, Stenger JE, Pericak-Vance MA, Vance JM, Züchner S, Hauser MA. Xu H, et al. Among authors: zuchner s. Bioinformatics. 2005 Nov 15;21(22):4181-6. doi: 10.1093/bioinformatics/bti682. Epub 2005 Sep 22. Bioinformatics. 2005. PMID: 16179360 Free PMC article.

7

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. Züchner S, et al. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797. Ann Neurol. 2006. PMID: 16437557

8

Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.

Züchner S, Vance JM. Züchner S, et al. Neuromolecular Med. 2006;8(1-2):63-74. doi: 10.1385/nmm:8:1-2:63. Neuromolecular Med. 2006. PMID: 16775367 Review.

9

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Züchner S, et al. Am J Hum Genet. 2006 Aug;79(2):365-9. doi: 10.1086/505361. Epub 2006 May 26. Am J Hum Genet. 2006. PMID: 16826527 Free PMC article.

10

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.

Züchner S, Vance JM. Züchner S, et al. Nat Clin Pract Neurol. 2006 Jan;2(1):45-53. doi: 10.1038/ncpneuro0071. Nat Clin Pract Neurol. 2006. PMID: 16932520 Review.

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