Müller JS - Search Results

1

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: muller felber w. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535

2

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

3

FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients.

Walter MC, Petersen JA, Stucka R, Fischer D, Schröder R, Vorgerd M, Schroers A, Schreiber H, Hanemann CO, Knirsch U, Rosenbohm A, Huebner A, Barisic N, Horvath R, Komoly S, Reilich P, Müller-Felber W, Pongratz D, Müller JS, Auerswald EA, Lochmüller H. Walter MC, et al. Among authors: muller js, muller felber w. J Med Genet. 2004 Apr;41(4):e50. doi: 10.1136/jmg.2003.013953. J Med Genet. 2004. PMID: 15060126 Free PMC article. No abstract available.

4

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner A, Lochmüller H, Abicht A. Müller JS, et al. Neuropediatrics. 2004 Jun;35(3):183-9. doi: 10.1055/s-2004-820996. Neuropediatrics. 2004. PMID: 15248101

5

The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

Müller JS, Abicht A, Burke G, Cossins J, Richard P, Baumeister SK, Stucka R, Eymard B, Hantaï D, Beeson D, Lochmüller H. Müller JS, et al. J Med Genet. 2004 Aug;41(8):e104. doi: 10.1136/jmg.2004.021139. J Med Genet. 2004. PMID: 15286164 Free PMC article. No abstract available.

6

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. Neuromuscul Disord. 2004 Nov;14(11):744-9. doi: 10.1016/j.nmd.2004.06.010. Neuromuscul Disord. 2004. PMID: 15482960

7

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.

Barisic N, Müller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmüller H, Abicht A. Barisic N, et al. Among authors: muller js. Eur J Paediatr Neurol. 2005;9(1):7-12. doi: 10.1016/j.ejpn.2004.10.008. Epub 2004 Dec 13. Eur J Paediatr Neurol. 2005. PMID: 15701560

8

An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).

Soltanzadeh P, Müller JS, Ghorbani A, Abicht A, Lochmüller H, Soltanzadeh A. Soltanzadeh P, et al. Among authors: muller js. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1039-40. doi: 10.1136/jnnp.2004.059436. J Neurol Neurosurg Psychiatry. 2005. PMID: 15965226 Free PMC article. No abstract available.

9

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A. Müller JS, et al. Neurology. 2005 Aug 9;65(3):463-5. doi: 10.1212/01.wnl.0000172346.26219.fd. Neurology. 2005. PMID: 16087917

10

Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis.

von der Hagen M, Schallner J, Kaindl AM, Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, von Moers A, Müller JS, Schara U, Vorgerd M, Walter MC, Müller-Reible C, Hübner C, Lochmüller H, Huebner A. von der Hagen M, et al. Among authors: muller js, muller reible c. Neuromuscul Disord. 2006 Jan;16(1):4-13. doi: 10.1016/j.nmd.2005.10.001. Epub 2005 Dec 27. Neuromuscul Disord. 2006. PMID: 16378727

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