Lochmüller H - Search Results

1

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H. O'Connor E, et al. Among authors: lochmuller h. Cells. 2019 Aug 7;8(8):848. doi: 10.3390/cells8080848. Cells. 2019. PMID: 31394789 Free PMC article.

2

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H. Müller JS, et al. Among authors: lochmuller h. Neuromuscul Disord. 2004 Nov;14(11):744-9. doi: 10.1016/j.nmd.2004.06.010. Neuromuscul Disord. 2004. PMID: 15482960

3

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmüller H, Hübner C, Mundlos S. Hoffmann K, et al. Among authors: lochmuller h. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20. Am J Hum Genet. 2006. PMID: 16826520 Free PMC article.

4

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A. Müller JS, et al. Among authors: lochmuller h. Brain. 2006 Oct;129(Pt 10):2784-93. doi: 10.1093/brain/awl188. Epub 2006 Aug 17. Brain. 2006. PMID: 16916845

5

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y. Beeson D, et al. Among authors: lochmuller h. Science. 2006 Sep 29;313(5795):1975-8. doi: 10.1126/science.1130837. Epub 2006 Aug 17. Science. 2006. PMID: 16917026

6

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.

Horvath R, Kley RA, Lochmüller H, Vorgerd M. Horvath R, et al. Among authors: lochmuller h. Neurology. 2007 Jan 2;68(1):56-8. doi: 10.1212/01.wnl.0000250334.48038.7a. Neurology. 2007. PMID: 17200493

7

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS, Mihaylova V, Abicht A, Lochmüller H. Müller JS, et al. Among authors: lochmuller h. Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. doi: 10.1017/S1462399407000427. Expert Rev Mol Med. 2007. PMID: 17686188 Review.

8

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.

Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H. Schara U, et al. Among authors: lochmuller h. Eur J Paediatr Neurol. 2010 Jul;14(4):326-33. doi: 10.1016/j.ejpn.2009.09.009. Epub 2009 Nov 8. Eur J Paediatr Neurol. 2010. PMID: 19900826

9

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H. Müller JS, et al. Among authors: lochmuller h. Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10. Hum Mol Genet. 2010. PMID: 20147321

10

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmüller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R. Schara U, et al. Among authors: lochmuller h. J Inherit Metab Dis. 2011 Feb;34(1):197-201. doi: 10.1007/s10545-010-9250-z. Epub 2010 Dec 10. J Inherit Metab Dis. 2011. PMID: 21153446

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