Wehnert MS - Search Results

1

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. Perrot A, et al. Among authors: wehnert ms. Basic Res Cardiol. 2009 Jan;104(1):90-9. doi: 10.1007/s00395-008-0748-6. Epub 2008 Sep 15. Basic Res Cardiol. 2009. PMID: 18795223

2

X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions.

Fidzianska A, Niebrój-Dobosz I, Madej-Pilarczyk A, Duong NT, Wehnert M. Fidzianska A, et al. Clin Neuropathol. 2010 Mar-Apr;29(2):78-83. doi: 10.5414/npp29078. Clin Neuropathol. 2010. PMID: 20175956

3

The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy.

Cortese R, Eckhardt F, Volleth M, Wehnert M, Koelsch U, Wieacker P, Brune T. Cortese R, et al. J Mol Endocrinol. 2007 Jun;38(6):663-71. doi: 10.1677/JME-07-0035. J Mol Endocrinol. 2007. PMID: 17556535

4

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

Starke S, Meinke P, Camozzi D, Mattioli E, Pfaeffle R, Siekmeyer M, Hirsch W, Horn LC, Paasch U, Mitter D, Lattanzi G, Wehnert M, Kiess W. Starke S, et al. Aging (Albany NY). 2013 Jun;5(6):445-59. doi: 10.18632/aging.100566. Aging (Albany NY). 2013. PMID: 23804595 Free PMC article.

5

The nuclear muscular dystrophies.

Wehnert MS, Bonne G. Wehnert MS, et al. Semin Pediatr Neurol. 2002 Jun;9(2):100-7. doi: 10.1053/spen.2002.33806. Semin Pediatr Neurol. 2002. PMID: 12138994 Review.

6

Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

Mittelbronn M, Hanisch F, Gleichmann M, Stötter M, Korinthenberg R, Wehnert M, Bonne G, Rudnik-Schöneborn S, Bornemann A. Mittelbronn M, et al. Brain Pathol. 2006 Oct;16(4):266-72. doi: 10.1111/j.1750-3639.2006.00028.x. Brain Pathol. 2006. PMID: 17107595 Free PMC article.

7

Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation.

Türk M, Wehnert M, Schröder R, Chevessier F. Türk M, et al. Neuromuscul Disord. 2013 Jul;23(7):587-90. doi: 10.1016/j.nmd.2013.04.008. Epub 2013 Jun 6. Neuromuscul Disord. 2013. PMID: 23746545

8

Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders.

Brune T, Bonne G, Denecke J, Elcioglu N, Hennekam RC, Marquardt T, Ozgen H, Stamsnijder M, Steichen E, Steinmann B, Wehnert M, Levy N. Brune T, et al. Pediatr Endocrinol Rev. 2004 Sep;2(1):39-45. Pediatr Endocrinol Rev. 2004. PMID: 16429102

9

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.

Kandert S, Lüke Y, Kleinhenz T, Neumann S, Lu W, Jaeger VM, Munck M, Wehnert M, Müller CR, Zhou Z, Noegel AA, Dabauvalle MC, Karakesisoglou I. Kandert S, et al. Hum Mol Genet. 2007 Dec 1;16(23):2944-59. doi: 10.1093/hmg/ddm255. Epub 2007 Sep 19. Hum Mol Genet. 2007. PMID: 17881656

10

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Rankin J, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. Am J Med Genet A. 2008. PMID: 18478590

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