Zerres K - Search Results

1

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).

Zerres K, Rudnik-Schöneborn S. Zerres K, et al. Neuromuscul Disord. 2003 Feb;13(2):179-83. doi: 10.1016/s0960-8966(02)00211-0. Neuromuscul Disord. 2003. PMID: 12565918 No abstract available.

2

Stable motor and lung function throughout pregnancy in a patient with infantile spinal muscular atrophy type II.

Rudnik-Schöneborn S, Breuer C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Neuromuscul Disord. 2002 Feb;12(2):137-40. doi: 10.1016/s0960-8966(01)00271-1. Neuromuscul Disord. 2002. PMID: 11738355

3

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG. Onuchic LF, et al. Among authors: zerres k. Am J Hum Genet. 2002 May;70(5):1305-17. doi: 10.1086/340448. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898128 Free PMC article.

4

Early infantile form of spinal muscular atrophy (Werdnig-Hoffmann disease) with prolonged survival.

Borkowska J, Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Zerres K. Borkowska J, et al. Among authors: zerres k. Folia Neuropathol. 2002;40(1):19-26. Folia Neuropathol. 2002. PMID: 12121035 Review.

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: zerres k. 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

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Rudnik-Schöneborn S, Sztriha L, Aithala GR, Houge G, Laegreid LM, Seeger J, Huppke M, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Among authors: zerres k. Am J Med Genet A. 2003 Feb 15;117A(1):10-7. doi: 10.1002/ajmg.a.10863. Am J Med Genet A. 2003. PMID: 12548734

7

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. Among authors: zerres k. Hum Mol Genet. 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030. Hum Mol Genet. 2003. PMID: 12554688

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

9

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, Li Z, Reimann J, Xue Z, Rudnik-Schöneborn S, Zerres K, van der Ven PF, Fürst DO, Kunz WS, Vicart P. Schröder R, et al. Among authors: zerres k. Hum Mol Genet. 2003 Mar 15;12(6):657-69. doi: 10.1093/hmg/ddg060. Hum Mol Genet. 2003. PMID: 12620971

10

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia.

Bergmann C, Zerres K, Senderek J, Rudnik-Schoneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. Bergmann C, et al. Among authors: zerres k. Brain. 2003 Jul;126(Pt 7):1537-44. doi: 10.1093/brain/awg173. Epub 2003 May 21. Brain. 2003. PMID: 12805098 Review.

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