Schröder JM - Search Results

1

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM. Senderek J, et al. Among authors: schroder jm. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

2

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: schroder jm. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318

3

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.

Züchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schröder JM. Züchner S, et al. Among authors: schroder jm. Brain. 2003 Apr;126(Pt 4):920-7. doi: 10.1093/brain/awg074. Brain. 2003. PMID: 12615648

4

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

5

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schröder JM. Senderek J, et al. Among authors: schroder jm. Acta Neuropathol. 1998 May;95(5):443-9. doi: 10.1007/s004010050823. Acta Neuropathol. 1998. PMID: 9600589

6

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM. Senderek J, et al. Among authors: schroder jm. J Neurol Sci. 1999 Aug 15;167(2):90-101. doi: 10.1016/s0022-510x(99)00146-x. J Neurol Sci. 1999. PMID: 10521546

7

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.

Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM. Senderek J, et al. Among authors: schroder jm. Brain Pathol. 2000 Apr;10(2):235-48. doi: 10.1111/j.1750-3639.2000.tb00257.x. Brain Pathol. 2000. PMID: 10764043 Free PMC article.

8

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.

Bergmann C, Schröder JM, Rudnik-Schöneborn S, Zerres K, Senderek J. Bergmann C, et al. Among authors: schroder jm. Brain Res Mol Brain Res. 2001 Mar 31;88(1-2):183-5. doi: 10.1016/s0169-328x(01)00040-7. Brain Res Mol Brain Res. 2001. PMID: 11295246

9

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

Bergmann C, Zerres K, Rudnik-Schöneborn S, Eggermann T, Schröder JM, Senderek J. Bergmann C, et al. Among authors: schroder jm. J Med Genet. 2002 Sep;39(9):e58. doi: 10.1136/jmg.39.9.e58. J Med Genet. 2002. PMID: 12205128 Free PMC article. No abstract available.

10

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.

Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E. Bissar-Tadmouri N, et al. Among authors: schroder jm. Neurology. 2004 May 11;62(9):1522-5. doi: 10.1212/01.wnl.0000123253.57555.3a. Neurology. 2004. PMID: 15136675

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