Wehnert M - Search Results

1

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: wehnert m. Neurogenetics. 2007 Apr;8(2):137-42. doi: 10.1007/s10048-006-0070-0. Epub 2006 Nov 29. Neurogenetics. 2007. PMID: 17136397

2

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. Among authors: wehnert m. 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.

3

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. Among authors: wehnert m. 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

4

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC. Meinke P, et al. Among authors: wehnert m. EBioMedicine. 2020 Jan;51:102587. doi: 10.1016/j.ebiom.2019.11.048. Epub 2019 Dec 17. EBioMedicine. 2020. PMID: 31862442 Free PMC article.

5

Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.

Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC. Le Thanh P, et al. Among authors: wehnert m. Neuromuscul Disord. 2017 Apr;27(4):338-351. doi: 10.1016/j.nmd.2016.12.003. Epub 2016 Dec 21. Neuromuscul Disord. 2017. PMID: 28214269 Free PMC article.

6

Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.

Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H. Walter MC, et al. Neuromuscul Disord. 2005 Jan;15(1):40-4. doi: 10.1016/j.nmd.2004.09.007. Neuromuscul Disord. 2005. PMID: 15639119

7

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.

8

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Vytopil M, et al. Among authors: wehnert m. Neuromuscul Disord. 2002 Dec;12(10):958-63. doi: 10.1016/s0960-8966(02)00178-5. Neuromuscul Disord. 2002. PMID: 12467752

9

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Bonne G, et al. Among authors: wehnert m. Ann Neurol. 2000 Aug;48(2):170-80. Ann Neurol. 2000. PMID: 10939567

10

Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy.

Hoeltzenbein M, Karow T, Zeller JA, Warzok R, Wulff K, Zschiesche M, Herrmann FH, Grosse-Heitmeyer W, Wehnert MS. Hoeltzenbein M, et al. Among authors: wehnert ms. Neuromuscul Disord. 1999 May;9(3):166-70. doi: 10.1016/s0960-8966(98)00120-5. Neuromuscul Disord. 1999. PMID: 10382910

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