Senderek J - Search Results

1

Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.

Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schröder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J. Roos A, et al. Among authors: senderek j. Acta Neuropathol. 2014 May;127(5):761-77. doi: 10.1007/s00401-013-1224-4. Epub 2013 Dec 21. Acta Neuropathol. 2014. PMID: 24362440

2

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. Acta Neuropathol. 1998 May;95(5):443-9. doi: 10.1007/s004010050823. Acta Neuropathol. 1998. PMID: 9600589

3

Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.

Bergmann C, Senderek J, Hermanns B, Jauch A, Janssen B, Schröder JM, Karch D. Bergmann C, et al. Among authors: senderek j. Muscle Nerve. 2000 May;23(5):818-23. doi: 10.1002/(sici)1097-4598(200005)23:5<818::aid-mus23>3.0.co;2-o. Muscle Nerve. 2000. PMID: 10797409

4

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: senderek j. 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

5

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain.

Senderek J, Ramaekers VT, Zerres K, Rudnik-Schöneborn S, Schröder JM, Bergmann C. Senderek J, et al. J Neurol Sci. 2001 Nov 15;192(1-2):49-51. doi: 10.1016/s0022-510x(01)00591-3. J Neurol Sci. 2001. PMID: 11701152

6

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: senderek j. 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.

7

Hypertrophic nerve roots in a case of Roussy-Lévy syndrome.

Haubrich C, Krings T, Senderek J, Züchner S, Schröder JM, Noth J, Töpper R. Haubrich C, et al. Among authors: senderek j. Neuroradiology. 2002 Nov;44(11):933-7. doi: 10.1007/s00234-002-0847-2. Epub 2002 Aug 24. Neuroradiology. 2002. PMID: 12428130

8

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. Brain. 2003 Mar;126(Pt 3):642-9. doi: 10.1093/brain/awg068. Brain. 2003. PMID: 12566285

9

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: senderek j. Brain. 2003 Apr;126(Pt 4):920-7. doi: 10.1093/brain/awg074. Brain. 2003. PMID: 12615648

10

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Among authors: senderek j. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.

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