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Items: 20

1.

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

Ivaskevicius V, Biswas A, Bevans C, Schroeder V, Kohler HP, Rott H, Halimeh S, Petrides PE, Lenk H, Krause M, Miterski B, Harbrecht U, Oldenburg J.

Haematologica. 2010 Jun;95(6):956-62. doi: 10.3324/haematol.2009.017210. Epub 2010 Feb 23.

2.

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. doi: 10.1111/j.1469-1809.2009.00508.x. Epub 2009 Mar 25.

3.

Association of a common polymorphism in the promoter of UCP2 with susceptibility to multiple sclerosis.

Vogler S, Goedde R, Miterski B, Gold R, Kroner A, Koczan D, Zettl UK, Rieckmann P, Epplen JT, Ibrahim SM.

J Mol Med (Berl). 2005 Oct;83(10):806-11. Epub 2005 Jul 15.

PMID:
16021520
4.

Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity.

Roxburgh RH, Seaman SR, Masterman T, Hensiek AE, Sawcer SJ, Vukusic S, Achiti I, Confavreux C, Coustans M, le Page E, Edan G, McDonnell GV, Hawkins S, Trojano M, Liguori M, Cocco E, Marrosu MG, Tesser F, Leone MA, Weber A, Zipp F, Miterski B, Epplen JT, Oturai A, Sørensen PS, Celius EG, Lara NT, Montalban X, Villoslada P, Silva AM, Marta M, Leite I, Dubois B, Rubio J, Butzkueven H, Kilpatrick T, Mycko MP, Selmaj KW, Rio ME, Sá M, Salemi G, Savettieri G, Hillert J, Compston DA.

Neurology. 2005 Apr 12;64(7):1144-51.

PMID:
15824338
5.

Complex genetic predisposition in adult and juvenile rheumatoid arthritis.

Miterski B, Drynda S, Böschow G, Klein W, Oppermann J, Kekow J, Epplen JT.

BMC Genet. 2004 Feb 4;5:2.

6.

Multilocus statistics to uncover epistasis and heterogeneity in complex diseases: revisiting a set of multiple sclerosis data.

Böhringer S, Hardt C, Miterski B, Steland A, Epplen JT.

Eur J Hum Genet. 2003 Aug;11(8):573-84.

7.

Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia.

Schulte T, Miterski B, Börnke C, Przuntek H, Epplen JT, Schöls L.

Neurology. 2003 May 13;60(9):1529-32.

PMID:
12743246
8.

A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers.

Goedde R, Sawcer S, Boehringer S, Miterski B, Sindern E, Haupts M, Schimrigk S, Compston A, Epplen JT.

Hum Genet. 2002 Sep;111(3):270-7. Epub 2002 Jul 31.

PMID:
12215840
9.

Mutation analysis and association studies of nuclear factor-kappaB1 in sporadic Parkinson's disease patients.

Wintermeyer P, Riess O, Schöls L, Przuntek H, Miterski B, Epplen JT, Krüger R.

J Neural Transm (Vienna). 2002 Sep;109(9):1181-8.

PMID:
12203044
10.

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.

Hum Mutat. 2002 Aug;20(2):127-32.

PMID:
12124993
11.

Inhibitors in the NFkappaB cascade comprise prime candidate genes predisposing to multiple sclerosis, especially in selected combinations.

Miterski B, Böhringer S, Klein W, Sindern E, Haupts M, Schimrigk S, Epplen JT.

Genes Immun. 2002 Jun;3(4):211-9.

12.

On the genetic contribution to selected multifactorial diseases with autoimmune characteristics.

Miterski B, Epplen JT, Gencik M.

Cell Mol Biol (Noisy-le-grand). 2002 May;48(3):331-41. Review.

PMID:
12030439
13.

PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients.

Miterski B, Sindern E, Haupts M, Schimrigk S, Epplen JT.

BMC Med Genet. 2002 May 16;3:3. Epub 2002 May 16.

14.

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA.

Nat Genet. 2002 Mar;30(3):321-4. Epub 2002 Feb 11.

PMID:
11836498
15.

Does the tuberous sclerosis complex include clivus chordoma? A case report.

Börgel J, Olschewski H, Reuter T, Miterski B, Epplen JT.

Eur J Pediatr. 2001 Feb;160(2):138. Review. No abstract available.

PMID:
11271387
16.

The interferon gene cluster: a candidate region for MS predisposition? Multiple Sclerosis Study Group.

Miterski B, Jaeckel S, Epplen JT, Pöhlau D, Hardt C.

Genes Immun. 1999 Sep;1(1):37-44.

17.

SCA2 alleles are not general predisposition factors for multiple sclerosis.

Miterski B, Eppelen JT, Poehlau D, Sindern E, Haupts M.

Neurogenetics. 2000 Mar;2(4):235-6. No abstract available.

PMID:
10983720
18.

PCR/SSCP detects reliably and efficiently DNA sequence variations in large scale screening projects.

Miterski B, Krüger R, Wintermeyer P, Epplen JT.

Comb Chem High Throughput Screen. 2000 Jun;3(3):211-8.

PMID:
10903380
19.

Polymerase chain reaction-single strand conformation polymorphism or how to detect reliably and efficiently each sequence variation in many samples and many genes.

Jaeckel S, Epplen JT, Kauth M, Miterski B, Tschentscher F, Epplen C.

Electrophoresis. 1998 Dec;19(18):3055-61. Review.

PMID:
9932793
20.

Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene.

Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schöls L.

Hum Genet. 1997 Jun;99(6):834-6.

PMID:
9187683

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