Bulst S - Search Results

1

Novel TPM3 mutation in a family with cap myopathy and review of the literature.

Schreckenbach T, Schröder JM, Voit T, Abicht A, Neuen-Jacob E, Roos A, Bulst S, Kuhl C, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: bulst s. Neuromuscul Disord. 2014 Feb;24(2):117-24. doi: 10.1016/j.nmd.2013.10.002. Epub 2013 Oct 23. Neuromuscul Disord. 2014. PMID: 24239060 Review.

2

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

3

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.

4

Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.

Rosenbohm A, Süssmuth SD, Kassubek J, Müller HP, Pontes C, Abicht A, Bulst S, Ludolph AC, Pinkhardt E. Rosenbohm A, et al. Among authors: bulst s. Muscle Nerve. 2014 Mar;49(3):446-50. doi: 10.1002/mus.23979. Epub 2014 Jan 31. Muscle Nerve. 2014. PMID: 23893693

5

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.

6

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

7

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.

8

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

9

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

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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