Stephan Zuchner

stephan Zuchner_4736_resized.jpgStephan Züchner, MD, is an Associate Professor in the Department of Human Genetics and Director for the MIHG Center for Human Molecular Genomics. Dr. Züchner is a neurologist and molecular biologist with extensive experience in the mapping of Mendelian diseases and cloning of causal genes. His extensive work on Charcot-Marie-Tooth disease has led to the recent identification of causal mutations for two types of CMT. Dr. Züchner's work focuses on molecular neurogenetics and psychiatric genetics.






Contact Information
szuchner@med.miami.edu
Miami Institute for Human Genomics
1120 NW 14th Street
Miami, FL 33136
ph: 305-243-6177
fax: 305-243-2396

Selected Publications
  1. Beetz C, Schle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schls L, de Jonghe P, Züchner S. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain. 2008 Apr;131(Pt 4):1078-86. Epub 2008 Mar 5.
  2. Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, Martin ER, Vance JM. Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet. 2008 Feb;82(2):283-9. Epub 2008 Jan 31.
  3. Züchner S, Roberts ST, Speer MC, Beckham JC. Update on psychiatric genetics. Genet Med. 2007 Jun;9(6):332-40. Review.
  4. Züchner S, Cuccaro ML, Tran-Viet KN, Cope H, Krishnan RR, Pericak-Vance MA, Wright HH, Ashley-Koch A. SLITRK1 mutations in trichotillomania. Mol Psychiatry. 2006 Oct;11(10):887-9.
  5. Züchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. Epub 2006 May 26.
  6. 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. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006 Feb;59(2):276-81.
  7. Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.Nat Clin Pract Neurol. 2006 Jan;2(1):45-53. Review.
  8. Züchner S, Vance JM. Emerging pathways for hereditary axonopathies. J Mol Med. 2005 Dec;83(12):935-43. Epub 2005 Aug 31. Review.
  9. Xu H, Gregory SG, Hauser ER, Stenger JE, Pericak-Vance MA, Vance JM, Züchner S, Hauser MA. SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics. 2005 Nov 15;21(22):4181-6. Epub 2005 Sep 22.
  10. 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. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30.
  11. 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. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004 May;36(5):449-51. Epub 2004 Apr 4.
  12. Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. Brain. 2003 Apr;126(Pt 4):920-7.