Züchner S - Search Results

1

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K. Senderek J, et al. Among authors: zuchner s. Am J Hum Genet. 2003 Nov;73(5):1106-19. doi: 10.1086/379525. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574644 Free PMC article.

2

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome.

Haubrich C, Krings T, Senderek J, Züchner S, Schröder JM, Noth J, Töpper R. Haubrich C, et al. Among authors: zuchner s. Neuroradiology. 2002 Nov;44(11):933-7. doi: 10.1007/s00234-002-0847-2. Epub 2002 Aug 24. Neuroradiology. 2002. PMID: 12428130

3

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Senderek J, et al. Among authors: zuchner s. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

4

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. Züchner S, et al. Brain. 2003 Apr;126(Pt 4):920-7. doi: 10.1093/brain/awg074. Brain. 2003. PMID: 12615648

5

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Züchner S, Vorgerd M, Sindern E, Schröder JM. Züchner S, et al. Neuromuscul Disord. 2004 Feb;14(2):147-57. doi: 10.1016/j.nmd.2003.10.003. Neuromuscul Disord. 2004. PMID: 14733962

6

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.

7

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.

Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E. Bissar-Tadmouri N, et al. Among authors: zuchner s. Neurology. 2004 May 11;62(9):1522-5. doi: 10.1212/01.wnl.0000123253.57555.3a. Neurology. 2004. PMID: 15136675

8

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

9

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.

10

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

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