Bettecken T - Search Results

1

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.

Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R. Benussi L, et al. Among authors: bettecken t. J Alzheimers Dis. 2013;33(1):69-76. doi: 10.3233/JAD-2012-121306. J Alzheimers Dis. 2013. PMID: 22890101

2

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, Ghidoni R. Benussi L, et al. Among authors: bettecken t. Neurobiol Aging. 2008 Mar;29(3):427-35. doi: 10.1016/j.neurobiolaging.2006.10.028. Epub 2006 Dec 6. Neurobiol Aging. 2008. PMID: 17157414

3

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.

Stöber G, Kohlmann B, Iekiera M, Rubie C, Gawlik M, Möller-Ehrlich K, Meitinger T, Bettecken T. Stöber G, et al. Among authors: bettecken t. BMC Psychiatry. 2005 Oct 14;5:36. doi: 10.1186/1471-244X-5-36. BMC Psychiatry. 2005. PMID: 16225677 Free PMC article.

4

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.

Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H. Rudolph G, et al. Among authors: bettecken t. Am J Ophthalmol. 2003 May;135(5):681-7. doi: 10.1016/s0002-9394(02)02155-4. Am J Ophthalmol. 2003. PMID: 12719077

5

Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.

Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stöber G. Bettecken T, et al. Mol Cell Probes. 2002 Oct;16(5):379-84. doi: 10.1006/mcpr.2002.0438. Mol Cell Probes. 2002. PMID: 12477442

6

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Rubie C, Lichtner P, Gärtner J, Siekiera M, Uziel G, Kohlmann B, Kohlschütter A, Meitinger T, Stöber G, Bettecken T. Rubie C, et al. Among authors: bettecken t. Hum Mutat. 2003 Jan;21(1):45-52. doi: 10.1002/humu.10145. Hum Mutat. 2003. PMID: 12497630

7

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, Weber BH. Fritsche LG, et al. Among authors: bettecken t. Hum Mutat. 2009 Jul;30(7):1048-53. doi: 10.1002/humu.20957. Hum Mutat. 2009. PMID: 19384966

8

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).

Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH. Grassmann F, et al. Among authors: bettecken t. Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14. Neuromolecular Med. 2015. PMID: 25680934 Free PMC article.

9

Familial carpal tunnel syndrome: further evidence for a genetic contribution.

Elstner M, Bettecken T, Wasner M, Anneser F, Dichgans M, Meitinger T, Gasser T, Klopstock T. Elstner M, et al. Among authors: bettecken t. Clin Genet. 2006 Feb;69(2):179-82. doi: 10.1111/j.1399-0004.2006.00555.x. Clin Genet. 2006. PMID: 16433699 No abstract available.

10

Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.

Winkelmann J, Lichtner P, Schormair B, Uhr M, Hauk S, Stiasny-Kolster K, Trenkwalder C, Paulus W, Peglau I, Eisensehr I, Illig T, Wichmann HE, Pfister H, Golic J, Bettecken T, Pütz B, Holsboer F, Meitinger T, Müller-Myhsok B. Winkelmann J, et al. Among authors: bettecken t. Mov Disord. 2008 Feb 15;23(3):350-8. doi: 10.1002/mds.21647. Mov Disord. 2008. PMID: 18058820

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