Uyanik G - Search Results

1

Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).

Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J. Winner B, et al. Among authors: uyanik g. Arch Neurol. 2004 Jan;61(1):117-21. doi: 10.1001/archneur.61.1.117. Arch Neurol. 2004. PMID: 14732628

2

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: uyanik g. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136

3

Functional imaging in PNH caused by a new FilaminA mutation.

Lange M, Winner B, Müller JL, Marienhagen J, Schröder M, Aigner L, Uyanik G, Winkler J. Lange M, et al. Among authors: uyanik g. Neurology. 2004 Jan 13;62(1):151-2. doi: 10.1212/01.wnl.0000103170.00899.8d. Neurology. 2004. PMID: 14718723 No abstract available.

4

Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2006 Apr 11;66(7):1044-8. doi: 10.1212/01.wnl.0000204181.31175.8b. Neurology. 2006. PMID: 16606917

5

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

Olmez A, Uyanik G, Ozgül RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J. Olmez A, et al. Among authors: uyanik g. Neuropediatrics. 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982. Neuropediatrics. 2006. PMID: 16773502

6

ARX mutations in X-linked lissencephaly with abnormal genitalia.

Uyanik G, Aigner L, Martin P, Gross C, Neumann D, Marschner-Schäfer H, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. Neurology. 2003. PMID: 12874405

7

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403

8

Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders.

Aigner L, Uyanik G, Couillard-Despres S, Ploetz S, Wolff G, Morris-Rosendahl D, Martin P, Eckel U, Spranger S, Otte J, Woerle H, Holthausen H, Apheshiotis N, Fluegel D, Winkler J. Aigner L, et al. Among authors: uyanik g. Neurology. 2003 Jan 28;60(2):329-32. doi: 10.1212/01.wnl.0000042091.90361.d2. Neurology. 2003. PMID: 12552055

9

Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.

Hartmann H, Uyanik G, Gross C, Hehr U, Lücke T, Arslan-Kirchner M, Antosch B, Das AM, Winkler J. Hartmann H, et al. Among authors: uyanik g. Neuropediatrics. 2004 Jun;35(3):157-60. doi: 10.1055/s-2004-817919. Neuropediatrics. 2004. PMID: 15248097

10

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.

Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Among authors: uyanik g. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881

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