Lochmüller H - Search Results

1

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Töpf A, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: lochmuller h. Neuromuscul Disord. 2018 Nov;28(11):961-964. doi: 10.1016/j.nmd.2018.08.007. Epub 2018 Sep 5. Neuromuscul Disord. 2018. PMID: 30266223

2

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Among authors: lochmuller h. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

3

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.

4

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

5

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: lochmuller h. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535

6

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: lochmuller h. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359

7

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

8

126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.

Beeson D, Hantaï D, Lochmüller H, Engel AG. Beeson D, et al. Among authors: lochmuller h. Neuromuscul Disord. 2005 Jul;15(7):498-512. doi: 10.1016/j.nmd.2005.05.001. Neuromuscul Disord. 2005. PMID: 15951177 No abstract available.

9

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.

Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H. Horváth R, et al. Among authors: lochmuller h. Neuromuscul Disord. 2005 Dec;15(12):851-7. doi: 10.1016/j.nmd.2005.09.005. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288875

10

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6. doi: 10.1136/jnnp.2005.067041. J Neurol Neurosurg Psychiatry. 2006. PMID: 16361598 Free PMC article.

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