Schröder JM - Search Results

1

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: schroder jm. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119

2

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F, Sindern E, Schröder JM, Shin YS, Zange J, Kilimann MW, Malin JP, Vorgerd M. Ziemssen F, et al. Among authors: schroder jm. Ann Neurol. 2000 Apr;47(4):536-40. Ann Neurol. 2000. PMID: 10762170

3

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Takashima H, et al. Among authors: schroder jm. Ann Neurol. 2002 Jun;51(6):709-15. doi: 10.1002/ana.10213. Ann Neurol. 2002. PMID: 12112076

4

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

Dohrn MF, Röcken C, De Bleecker JL, Martin JJ, Vorgerd M, Van den Bergh PY, Ferbert A, Hinderhofer K, Schröder JM, Weis J, Schulz JB, Claeys KG. Dohrn MF, et al. Among authors: schroder jm. J Neurol. 2013 Dec;260(12):3093-108. doi: 10.1007/s00415-013-7124-7. Epub 2013 Oct 8. J Neurol. 2013. PMID: 24101130

5

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.

Nolte KW, Janecke AR, Vorgerd M, Weis J, Schröder JM. Nolte KW, et al. Among authors: schroder jm. Acta Neuropathol. 2008 Nov;116(5):491-506. doi: 10.1007/s00401-008-0417-8. Epub 2008 Jul 26. Acta Neuropathol. 2008. PMID: 18661138

6

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Züchner S, Vorgerd M, Sindern E, Schröder JM. Züchner S, et al. Among authors: schroder jm. Neuromuscul Disord. 2004 Feb;14(2):147-57. doi: 10.1016/j.nmd.2003.10.003. Neuromuscul Disord. 2004. PMID: 14733962

7

A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.

Schoser BG, Schröder JM, Grimm T, Sternberg D, Kress W. Schoser BG, et al. Among authors: schroder jm. Muscle Nerve. 2007 May;35(5):599-606. doi: 10.1002/mus.20733. Muscle Nerve. 2007. PMID: 17212350

8

Adult polyglucosan body disease: a postmortem correlation study.

Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Schröder JM, Malin JP, Vorgerd M. Sindern E, et al. Among authors: schroder jm. Neurology. 2003 Jul 22;61(2):263-5. doi: 10.1212/01.wnl.0000073144.96680.cb. Neurology. 2003. PMID: 12874416

9

Polyneuropathy with osmiophilic membrane-bound, cytoplasmic inclusions in Schwann cells (POMCIS).

Schröder JM, Wang JF, Sindern E, Malin JP. Schröder JM, et al. Acta Neuropathol. 1999 Oct;98(4):427-32. doi: 10.1007/s004010051104. Acta Neuropathol. 1999. PMID: 10502050

10

Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.

Jenne DE, Kley RA, Vorgerd M, Schröder JM, Weis J, Reimann H, Albrecht B, Nürnberg P, Thiele H, Müller CR, Meng G, Witt CC, Labeit S. Jenne DE, et al. Among authors: schroder jm. Biol Chem. 2005 Jan;386(1):61-7. doi: 10.1515/BC.2005.008. Biol Chem. 2005. PMID: 15843148

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