Hübner CA - Search Results

1

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, Kaether C, De Jonghe P, Hübner CA, Gal A, Amling M, Mundlos S, Baets J, Kurth I. Kornak U, et al. Among authors: hubner ca. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22. Brain. 2014. PMID: 24459106

2

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.

Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A. Hübner CA, et al. Hum Mutat. 2004 May;23(5):526. doi: 10.1002/humu.9242. Hum Mutat. 2004. PMID: 15108295

3

Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.

Hübner CA, Orth U, Senning A, Steglich C, Kohlschütter A, Korinthenberg R, Gal A. Hübner CA, et al. Hum Mutat. 2005 Mar;25(3):321-2. doi: 10.1002/humu.9314. Hum Mutat. 2005. PMID: 15712223

4

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

Hübner CA, Senning A, Orth U, Zerres K, Urbach H, Gal A, Rudnik-Schöneborn S. Hübner CA, et al. Neuroscience. 2005;132(3):697-701. doi: 10.1016/j.neuroscience.2005.01.042. Neuroscience. 2005. PMID: 15837131

5

The forkhead transcription factor Foxi1 directly activates the AE4 promoter.

Kurth I, Hentschke M, Hentschke S, Borgmeyer U, Gal A, Hübner CA. Kurth I, et al. Among authors: hubner ca. Biochem J. 2006 Jan 1;393(Pt 1):277-83. doi: 10.1042/BJ20051094. Biochem J. 2006. PMID: 16159312 Free PMC article.

6

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold.

Hentschke M, Wiemann M, Hentschke S, Kurth I, Hermans-Borgmeyer I, Seidenbecher T, Jentsch TJ, Gal A, Hübner CA. Hentschke M, et al. Among authors: hubner ca. Mol Cell Biol. 2006 Jan;26(1):182-91. doi: 10.1128/MCB.26.1.182-191.2006. Mol Cell Biol. 2006. PMID: 16354689 Free PMC article.

7

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.

Neubauer BA, Stefanova I, Hübner CA, Neumaier-Probst E, Bohl J, Oppermann HC, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A. Neubauer BA, et al. Among authors: hubner ca. Neurology. 2006 Aug 22;67(4):587-91. doi: 10.1212/01.wnl.0000230133.11951.75. Neurology. 2006. PMID: 16924009

8

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Schüle R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Hübner CA, Schöls L, Deufel T, Beetz C. Schüle R, et al. Among authors: hubner ca. Neurogenetics. 2009 Apr;10(2):97-104. doi: 10.1007/s10048-008-0158-9. Epub 2008 Oct 15. Neurogenetics. 2009. PMID: 18855023

9

Missense exchanges in the TTBK2 gene mutated in SCA11.

Edener U, Kurth I, Meiner A, Hoffmann F, Hübner CA, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Among authors: hubner ca. J Neurol. 2009 Nov;256(11):1856-9. doi: 10.1007/s00415-009-5209-0. Epub 2009 Jun 17. J Neurol. 2009. PMID: 19533200

10

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.

Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA. Kurth I, et al. Among authors: hubner ca. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838196

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