Hehr U - Search Results

1

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

2

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

3

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ. Yis U, et al. Among authors: hehr u. Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18. Neuromuscul Disord. 2011. PMID: 20961758

4

Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.

Haliloglu G, Gross C, Senbil N, Talim B, Hehr U, Uyanik G, Winkler J, Topaloglu H. Haliloglu G, et al. Among authors: hehr u. Acta Myol. 2004 Dec;23(3):137-9. Acta Myol. 2004. PMID: 15938569

5

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H. Geis T, et al. Among authors: hehr u. Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. Orphanet J Rare Dis. 2019. PMID: 31311558 Free PMC article.

6

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

7

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

8

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

9

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.

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. 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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