Bulst S - Search Results

1

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. Bulst S, et al. Mol Genet Metab. 2012 Sep;107(1-2):95-103. doi: 10.1016/j.ymgme.2012.04.022. Epub 2012 May 3. Mol Genet Metab. 2012. PMID: 22608879 Free PMC article.

2

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Bulst S, Abicht A, Holinski-Feder E, Müller-Ziermann S, Koehler U, Thirion C, Walter MC, Stewart JD, Chinnery PF, Lochmüller H, Horvath R. Bulst S, et al. Hum Mol Genet. 2009 May 1;18(9):1590-9. doi: 10.1093/hmg/ddp074. Epub 2009 Feb 16. Hum Mol Genet. 2009. PMID: 19221117

3

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmüller H, Chinnery PF, Klopstock T, Horvath R. Walter MC, et al. Among authors: bulst s. J Neurol. 2010 Sep;257(9):1517-23. doi: 10.1007/s00415-010-5565-9. Epub 2010 Apr 20. J Neurol. 2010. PMID: 20405137

4

Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.

Levin J, Bulst S, Thirion C, Schmidt F, Bötzel K, Krause S, Pertl C, Kretzschmar H, Walter MC, Giese A, Lochmüller H. Levin J, et al. Among authors: bulst s. J Neuropathol Exp Neurol. 2010 Apr;69(4):415-24. doi: 10.1097/NEN.0b013e3181d71305. J Neuropathol Exp Neurol. 2010. PMID: 20448486

5

A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).

Reilich P, Krause S, Schramm N, Klutzny U, Bulst S, Zehetmayer B, Schneiderat P, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: bulst s. J Neurol. 2011 Aug;258(8):1437-44. doi: 10.1007/s00415-011-5953-9. Epub 2011 Feb 20. J Neurol. 2011. PMID: 21336781

6

Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC. Ikenberg E, et al. Among authors: bulst s. Neuromuscul Disord. 2017 Sep;27(9):856-860. doi: 10.1016/j.nmd.2017.05.017. Epub 2017 Jun 1. Neuromuscul Disord. 2017. PMID: 28666572

7

Corrigendum to 'Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient' [Neuromuscular Disorders 27 (2017) 856-860].

Ikenberg E, Karin I, Ertl-Wagner B, Abicht A, Bulst S, Krause S, Schoser B, Reilich P, Walter MC. Ikenberg E, et al. Among authors: bulst s. Neuromuscul Disord. 2017 Dec;27(12):e1. doi: 10.1016/j.nmd.2017.10.001. Epub 2017 Oct 23. Neuromuscul Disord. 2017. PMID: 29074295 No abstract available.

8

Evaluation of the therapeutic potential of carbonic anhydrase inhibitors in two animal models of dystrophin deficient muscular dystrophy.

Giacomotto J, Pertl C, Borrel C, Walter MC, Bulst S, Johnsen B, Baillie DL, Lochmüller H, Thirion C, Ségalat L. Giacomotto J, et al. Among authors: bulst s. Hum Mol Genet. 2009 Nov 1;18(21):4089-101. doi: 10.1093/hmg/ddp358. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648295

9

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Brusa R, Magri F, Papadimitriou D, Govoni A, Del Bo R, Ciscato P, Savarese M, Cinnante C, Walter MC, Abicht A, Bulst S, Corti S, Moggio M, Bresolin N, Nigro V, Comi GP. Brusa R, et al. Among authors: bulst s. Neuromuscul Disord. 2018 Jun;28(6):532-537. doi: 10.1016/j.nmd.2018.04.006. Epub 2018 Apr 13. Neuromuscul Disord. 2018. PMID: 29759638 Review.

10

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter MC, Reilich P, Huebner A, Fischer D, Schröder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmüller H. Walter MC, et al. Among authors: bulst s. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

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