Lochmüller H - Search Results

1

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. Among authors: lochmuller h. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.

2

Exercise-induced myalgia in hypothyroidism.

Lochmüller H, Reimers CD, Fischer P, Heuss D, Müller-Höcker J, Pongratz DE. Lochmüller H, et al. Clin Investig. 1993 Dec;71(12):999-1001. doi: 10.1007/BF00180031. Clin Investig. 1993. PMID: 8124059

3

Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.

Abicht A, Müller-Felber W, Fischer P, Jakob I, Kürz L, Rudel R, Mortier W, Pongratz D, Lochmüller H. Abicht A, et al. Among authors: lochmuller h. Eur J Med Res. 1997 Dec 31;2(12):515-22. Eur J Med Res. 1997. PMID: 9498929

4

Tenascin is a useful marker in the diagnosis of inflammatory myopathies.

Müller-Felber W, Toepfer M, Müller T, Müller-Höcker J, Fischer P, Lochmüller H, Pongratz D. Müller-Felber W, et al. Among authors: lochmuller h. Eur J Med Res. 1998 Jun 17;3(6):281-7. Eur J Med Res. 1998. PMID: 9620889

5

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

Müller-Höcker J, Schäfer S, Mendel B, Lochmüller H, Pongratz D. Müller-Höcker J, et al. Among authors: lochmuller h. Ultrastruct Pathol. 2000 Nov-Dec;24(6):407-16. doi: 10.1080/019131200750060078. Ultrastruct Pathol. 2000. PMID: 11206338 Review.

6

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Jaksch M, et al. Among authors: lochmuller h. J Med Genet. 2001 Oct;38(10):665-73. doi: 10.1136/jmg.38.10.665. J Med Genet. 2001. PMID: 11584044 Free PMC article.

7

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.

Gross M, Rötzer E, Kölle P, Mortier W, Reichmann H, Goebel HH, Lochmüller H, Pongratz D, Mahnke-Zizelman DK, Sabina RL. Gross M, et al. Among authors: lochmuller h. Neuromuscul Disord. 2002 Aug;12(6):558-65. doi: 10.1016/s0960-8966(02)00008-1. Neuromuscul Disord. 2002. PMID: 12117480

8

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812. J Med Genet. 2002. PMID: 12414820 Free PMC article. No abstract available.

9

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

Durling HJ, Reilich P, Müller-Höcker J, Mendel B, Pongratz D, Wallgren-Pettersson C, Gunning P, Lochmüller H, Laing NG. Durling HJ, et al. Among authors: lochmuller h. Neuromuscul Disord. 2002 Dec;12(10):947-51. doi: 10.1016/s0960-8966(02)00182-7. Neuromuscul Disord. 2002. PMID: 12467750

10

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Schmidt C, et al. Among authors: lochmuller h. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

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