Hehr U - Search Results

1

POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons.

Judas M, Sedmak G, Rados M, Sarnavka V, Fumić K, Willer T, Gross C, Hehr U, Strahl S, Cuk M, Barić I. Judas M, et al. Among authors: hehr u. Neuropediatrics. 2009 Feb;40(1):6-14. doi: 10.1055/s-0029-1224099. Epub 2009 Jul 28. Neuropediatrics. 2009. PMID: 19639522

2

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloğlu H. Balci B, et al. Among authors: hehr u. Neuromuscul Disord. 2005 Apr;15(4):271-5. doi: 10.1016/j.nmd.2005.01.013. Neuromuscul Disord. 2005. PMID: 15792865

3

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.

Lommel M, Cirak S, Willer T, Hermann R, Uyanik G, van Bokhoven H, Körner C, Voit T, Barić I, Hehr U, Strahl S. Lommel M, et al. Among authors: hehr u. Neurology. 2010 Jan 12;74(2):157-64. doi: 10.1212/WNL.0b013e3181c919d6. Neurology. 2010. PMID: 20065251

4

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Yis U, Uyanik G, Kurul S, Dirik E, Ozer E, Gross C, Hehr U. Yis U, et al. Among authors: hehr u. Eur J Paediatr Neurol. 2007 Jan;11(1):46-9. doi: 10.1016/j.ejpn.2006.10.007. Epub 2006 Dec 11. Eur J Paediatr Neurol. 2007. PMID: 17161965

5

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: hehr u. Neuropediatrics. 2004 Jun;35(3):157-60. doi: 10.1055/s-2004-817919. Neuropediatrics. 2004. PMID: 15248097

6

X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.

Hahn A, Gross C, Uyanik G, Hehr U, Hügens-Penzel M, Alzen G, Neubauer BA. Hahn A, et al. Among authors: hehr u. Neuropediatrics. 2004 Jun;35(3):202-5. doi: 10.1055/s-2004-817955. Neuropediatrics. 2004. PMID: 15248105

7

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: hehr u. Neuropediatrics. 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982. Neuropediatrics. 2006. PMID: 16773502

8

Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation.

Martin P, Uyanik G, Wiemer-Kruel A, Schneider S, Gross C, Hehr U, Winkler J. Martin P, et al. Among authors: hehr u. J Neurol. 2004 Jan;251(1):108-10. doi: 10.1007/s00415-004-0262-1. J Neurol. 2004. PMID: 14999500 No abstract available.

9

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation.

Wohlrab G, Uyanik G, Gross C, Hehr U, Winkler J, Schmitt B, Boltshauser E. Wohlrab G, et al. Among authors: hehr u. Eur J Pediatr. 2005 May;164(5):326-8. doi: 10.1007/s00431-005-1622-2. Epub 2005 Feb 22. Eur J Pediatr. 2005. PMID: 15726411 Free article. No abstract available.

10

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. Among authors: hehr u. Neurology. 2003 Jul 22;61(2):232-5. doi: 10.1212/01.wnl.0000079371.19562.ba. Neurology. 2003. PMID: 12874405

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