Senderek J - Search Results

1

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: senderek j. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.

2

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

3

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

4

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.

5

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Bergmann C, Senderek J, Sedlacek B, Pegiazoglou I, Puglia P, Eggermann T, Rudnik-Schöneborn S, Furu L, Onuchic LF, De Baca M, Germino GG, Guay-Woodford L, Somlo S, Moser M, Büttner R, Zerres K. Bergmann C, et al. Among authors: senderek j. J Am Soc Nephrol. 2003 Jan;14(1):76-89. doi: 10.1097/01.asn.0000039578.55705.6e. J Am Soc Nephrol. 2003. PMID: 12506140

6

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K. Senderek J, et al. Hum Mol Genet. 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. Hum Mol Genet. 2003. PMID: 12554688

7

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

8

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

9

Autosomal recessive polycystic kidney disease (ARPKD).

Zerres K, Rudnik-Schöneborn S, Senderek J, Eggermann T, Bergmann C. Zerres K, et al. Among authors: senderek j. J Nephrol. 2003 May-Jun;16(3):453-8. J Nephrol. 2003. PMID: 12832752

10

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC).

Bergmann C, Zerres K, Peschgens T, Senderek J, Hörnchen H, Rudnik-Schöneborn S. Bergmann C, et al. Among authors: senderek j. Am J Med Genet A. 2003 Aug 30;121A(2):151-5. doi: 10.1002/ajmg.a.20167. Am J Med Genet A. 2003. PMID: 12910495 Review.

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