Toliat MR - Search Results

1

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Lal D, Neubauer BA, Toliat MR, Altmüller J, Thiele H, Nürnberg P, Kamrath C, Schänzer A, Sander T, Hahn A, Nothnagel M. Lal D, et al. Among authors: toliat mr. PLoS One. 2016 Jan 20;11(1):e0146040. doi: 10.1371/journal.pone.0146040. eCollection 2016. PLoS One. 2016. PMID: 26789268 Free PMC article.

2

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Becker C, Nürnberg P. Sander T, et al. Among authors: toliat mr. Epilepsy Res. 2002 Apr;49(2):173-7. doi: 10.1016/s0920-1211(02)00025-6. Epilepsy Res. 2002. PMID: 12049805

3

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Leschik G, Becker C, Rüschendorf F, Rohde K, Mundlos S, Nürnberg P. Sander T, et al. Among authors: toliat mr. Epilepsy Res. 2002 Oct;51(3):249-55. doi: 10.1016/s0920-1211(02)00152-3. Epilepsy Res. 2002. PMID: 12399075

4

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis.

Uhlmann K, Brinckmann A, Toliat MR, Ritter H, Nürnberg P. Uhlmann K, et al. Among authors: toliat mr. Electrophoresis. 2002 Dec;23(24):4072-9. doi: 10.1002/elps.200290023. Electrophoresis. 2002. PMID: 12481262

5

Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.

Izzi C, Barbon A, Toliat MR, Heils A, Becker C, Nürnberg P, Sander T, Barlati S. Izzi C, et al. Among authors: toliat mr. Am J Med Genet B Neuropsychiatr Genet. 2003 Nov 15;123B(1):59-63. doi: 10.1002/ajmg.b.20024. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 14582146

6

New universal primers facilitate Pyrosequencing.

Aydin A, Toliat MR, Bähring S, Becker C, Nürnberg P. Aydin A, et al. Among authors: toliat mr. Electrophoresis. 2006 Feb;27(2):394-7. doi: 10.1002/elps.200500467. Electrophoresis. 2006. PMID: 16331584

7

Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.

Bauerfeind A, Knoblauch H, Costanza MC, Luganskaja T, Toliat MR, Nürnberg P, Luft FC, Reich JG, Morabia A. Bauerfeind A, et al. Among authors: toliat mr. Hum Hered. 2006;61(3):123-31. doi: 10.1159/000093773. Epub 2006 Jun 12. Hum Hered. 2006. PMID: 16770077

8

Genetic association studies of the chromosome 15 GABA-A receptor cluster in migraine with aura.

Netzer C, Freudenberg J, Toliat MR, Heinze A, Heinze-Kuhn K, Thiele H, Goebel I, Nürnberg P, Ptácek LJ, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: toliat mr. Am J Med Genet B Neuropsychiatr Genet. 2008 Jan 5;147B(1):37-41. doi: 10.1002/ajmg.b.30560. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17680603

9

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: toliat mr. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368

10

New genetic evidence for involvement of the dopamine system in migraine with aura.

Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C. Todt U, et al. Hum Genet. 2009 Apr;125(3):265-79. doi: 10.1007/s00439-009-0623-z. Epub 2009 Jan 17. Hum Genet. 2009. PMID: 19152006

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