Schoser B - Search Results

1

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: schoser b. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.

2

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel HH, Nix WA, Kubisch C, Schoser BG, Mortier W. Vorgerd M, et al. Among authors: schoser bg. Neurology. 2001 Dec 26;57(12):2273-7. doi: 10.1212/wnl.57.12.2273. Neurology. 2001. PMID: 11756609

3

Rippling muscle disease in childhood.

Schara U, Vorgerd M, Popovic N, Schoser BG, Ricker K, Mortier W. Schara U, et al. J Child Neurol. 2002 Jul;17(7):483-90. doi: 10.1177/088307380201700703. J Child Neurol. 2002. PMID: 12269726

4

Pathological consequences of VCP mutations on human striated muscle.

Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R. Hübbers CU, et al. Brain. 2007 Feb;130(Pt 2):381-93. doi: 10.1093/brain/awl238. Epub 2006 Sep 19. Brain. 2007. PMID: 16984901

5

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: schoser bg. Brain. 2007 Jun;130(Pt 6):1485-96. doi: 10.1093/brain/awm039. Epub 2007 Apr 17. Brain. 2007. PMID: 17439987

6

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Suominen T, Schoser B, Raheem O, Auvinen S, Walter M, Krahe R, Lochmüller H, Kress W, Udd B. Suominen T, et al. Among authors: schoser b. J Neurol. 2008 Nov;255(11):1731-6. doi: 10.1007/s00415-008-0010-z. Epub 2008 Sep 24. J Neurol. 2008. PMID: 18807109 Free PMC article.

7

Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.

Schoser B, Jacob S, Hilton-Jones D, Müller-Felber W, Kubisch C, Claus D, Goebel HH, Vita G, Vincent A, Toscano A, Van den Bergh P. Schoser B, et al. Neuromuscul Disord. 2009 Mar;19(3):223-8. doi: 10.1016/j.nmd.2009.01.002. Epub 2009 Feb 8. Neuromuscul Disord. 2009. PMID: 19208478

8

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H. Reilich P, et al. Among authors: schoser b. Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19. Neuromuscul Disord. 2010. PMID: 20171888

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: schoser b. 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

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: schoser b. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567

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