Publikationen

2017

  • Hawlitschka A, Holzmann C, Witt S, Spiewok J, Neumann A-M, Schmitt O, Wree A and Antipova V. Intrastriatally injected botulinum neurotoxin-A differently effects cholinergic and dopaminergic fibers in C57BL/6 mice. Brain Research, revised manuscript under review
  • Kloth L, Gottlieb A, Helmke BM, Wosniok W and Bullerdiek J. Expression of HMGA2 in fetal placenta correlates with gestational age. submitted to BMC Women´s Health
  • Holzmann C, Koczan D, Loening T, Rommel B, Bullerdiek J. Case Report: A low-grade uterine leiomyosarcoma showing multiple genetic aberrations including a bi-allelic loss of the retinoblastoma gene locus as well as germ-line uniparental disomy for part of the long arm of chromosome 22. Anticancer Research 37:2233
  • Antipova V, Holzmann C, Schmitt O, Wree A and Hawlitschka A. Behavioral effects of Botulinum neurotoxin A injected ipsilaterally and contralaterally into the striatum in the rat 6-OHDA model of unilateral Parkinson’s disease. Frontiers in Behavioral Neuroscience 11:119
  • Meyer A, Wree A, Holzmann C, Schmitt O, Rolfs A and Witt M. Increased regenerative capacity of the olfactory epithelium in Niemann-Pick disease type C1. Int J Med Sci 18:777
  • Bloch J, Holzmann C, Koczan D, Helmke BM, Bullerdiek J. Loss of MED12-mutated leiomyoma cells occurs independent of passaging during in vitro growth. Oncotarget 137(2):123-128
  • Günther K, Foraita R, Friemel J, Günther F, Bullerdiek J, Nimzyk R, Markowski DN, Behrens T, Ahrens W. (2017) The Stem Cell Factor HMGA2 Is Expressed in Non-HPV-Associated Head and Neck Squamous Cell Carcinoma and Predicts Patient Survival of Distinct Subsites. Cancer Epidemiol Biomarkers Prev. 26:197-205
  • Maletzki C, Hühns M, Bauer I, Ripperger,T, Mork MM, Vilar, E, Klöcking S, Zettl, H, Prall, F, Linnebacher (2017) Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Mol Carcinog 56:1753-1764

Buchbeiträge

  • Bullerdiek J (2017) Lipomas and Uterine Leiomyomas. Chapter in: Reference Module in Life Sciences, Elsevier, ISBN 9780128096338
  • Bell D, Bullerdiek J et al. (2017) Pleomorphic adenoma. Chapter 1-7A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ. (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 33, ISBN 978-92-832-2438-9
  • Thompson, LDR, Bullerdiek J et al. (2017) Leiomyoma. Chapter 1-10A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 47, ISBN 978-92-832-2438-9
  • Thompson, LDR, Bullerdiek J et al. (2017) Haemangioma .Chapter 1-10B in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 47, ISBN 978-92-832-2438-9
  • Thompson, LDR, Bullerdiek J et al. (2017) Schwannoma. Chapter 1-10C in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 48, ISBN 978-92-832-2438-9
  • Thompson, LDR, Bullerdiek J et al. (2017) Neurofibroma. Chapter 1-10D in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 49, ISBN 978-92-832-2438-9
  • Bullerdiek J et al. (2017) Angiosarcoma. Chapter 1-8E in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 38, ISBN 978-92-832-2438-9
  • Bullerdiek J et al. (2017) Synovial Sarcoma. Chapter 1-8H in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 41, ISBN 978-92-832-2438-9
  • Baumhoer D, Bullerdiek J, Nicolai P. (2017) Chordoma. Chapter 2-8A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 76, ISBN 978-92-832-2438-9
  • Bell D, Bullerdiek J, Hunt JL. (2017) Pleomorphic adenoma. Chapter 3-6B in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 99, ISBN 978-92-832-2438-9
  • Allen CM, Bullerdiek J (2017) Congenital granular cell epulis. Chapter 4-5A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 119, ISBN 978-92-832-2438-9
  • Bullerdiek J et al. (2017) Rhabdomyoma. Chapter 4-6B in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 122, ISBN 978-92-832-2438-9
  • Bullerdiek J et al. (2017) Lymphangioma. Chapter 4-6C in:El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ(Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 122, ISBN 978-92-832-2438-9
  • Bullerdiek J et al. (2017) Haemangioma (suptypes). Chapter 4-6D in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 123, ISBN 978-92-832-2438-9
  • Bell D, Bullerdiek J et al. (2017) Pleomorphic adenoma. Chapter 5-3A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 139, ISBN 978-92-832-2438-9
  • Bell D, Bullerdiek J et al. (2017) Pleomorphic adenoma. Chapter 7-4A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ. (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 185, ISBN 978-92-832-2438-9
  • Flucke U, Bullerdiek J et al. (2017) Haemangioma. Chapter 7-6A in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 198, ISBN 978-92-832-2438-9
  • Ihrler S, Bullerdiek J et al. (2017) Lipoma/Sialolipoma. Chapter 7-6B in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 198, ISBN 978-92-832-2438-9
  • Ihrler S, Bullerdiek J et al. (2017) Nodular fasciitis. Chapter 7-6C in: El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ (Editors). Pathology and Genetics of Head and Neck Tumours. Fourth edition, Volume 9, 199, ISBN 978-92-832-2438-9

2016

  • Schlegel V, Thieme M, Holzmann C, Witt M, Grittner U, Rolfs A, Wree A. (2016) Pharmacologic treatment assigned for Niemann Pick type C1 disease partly changes behavioral traits in wild type mice. Int J Med Sci 17:1866
  • Bullerdiek J. (2016) Somatische Mutationen bei Uterus-Myomen: Bedeutung für Pathogenese und klinische Relevanz. DKFZ Zeitschrift Einblick 1/2016:14
  • Günther K, Foraita R, Friemel J, Günther F, Bullerdiek J, Nimzyk R, Markowski DN, Behrens T, Ahrens W. (2016) The stem cell factor HMGA2 is expressed in non-HPV associated head and neck squamous cell carcinoma and predicts patient survival of distinct subsites. Cancer Epidemiol Biomarkers Prev.  [Epub ahead of print]
  • Flor, I., Spiekermann, M., Löning, T., Dieckmann, K.-P., Belge, G., Bullerdiek, J. Expression of microRNAs of C19MC in different histologic types of testicular germ cell tumours. Cancer Genomics and Proteomics 13:281-289
  • Friemel J, Foraita R, Günther K, Heibeck M, Günther F, Pflueger M, Pohlabeln H, Behrens T, Bullerdiek J, Nimzyk R, Ahrens W. (2016) Pretreatment oral hygiene habits and survival of head and neck squamous cell carcinoma (HNSCC) patients. BMC Oral Health. 16:33
    Bullerdiek J, Dotzauer, A and Bauer, I. (2016) The mitotic spindle: Linking teratogenic effects of Zika virus with human genetics? Molecular Cytogenetics 9:32
  • Rommel B, Holzmann C and Bullerdiek J. (2016) Malignant mesenchymal tumors of the uterus – time to advocate a genetic classification.
    Expert Review of Anticancer Therapy 16:1155
  • Dieckmann KP, Spiekermann M, Balks T, Ikogho R, Anheuser P, Wosniok W, Loening T, Bullerdiek J, Belge G. (2016) MicroRNA miR-371a-3p - A Novel Serum Biomarker of Testicular Germ Cell Tumors: Evidence for Specificity from Measurements in Testicular Vein Blood and in Neoplastic Hydrocele Fluid. Urol Int. 97:76-83
  • Holzmann C, Löning T, and Bullerdiek J. Hyperhaploid uterine mesenchymal tumors - a novel genetic subgroup? Cancer Genetics 209: 278-281

2015

  • Holzmann C, Markowski DN, von Leffern, Löning C and Bullerdiek J. (2015) Patterns of chromosomal abnormalities that can improve diagnosis of uterine smooth muscle tumors.  Anticancer Research 35:6445
  • Markowski DN, Holzmann C and Bullerdiek J. (2015) Genetic alterations in uterine fibroids – A new direction for pharmacological intervention? Expert Opinion On Therapeutic Targets 19:1485-94
  • Holzmann C, Markowski DN, Bartnitzke S, Koczan D, Helmke BM and Bullerdiek J. (2015) A rare coincidence of different types of driver mutations among uterine leiomyomas of one patient. Molecular Cytogenetics 8:76
  • Kloth L, Gottlieb A, Helmke BM, Wosniok W, Löning T, Burchardt K, Belge G, Günther K, and  Bullerdiek J. (2015): HMGA2 expression distinguishes between different types of post-pubertal testicular germ cell tumours. The Journal of Pathology: Clinical Research 1:239-251
  • Bullerdiek J (2015) Somatische Mutationen bei Uterus-Myomen: Bedeutung für
    Pathogenese und klinische Relevanz. GYNE 4: 22-24
  • Flor I and Bullerdiek J. (2015) MicroRNAs als Mediatoren des embryomaternalen Dialogs. Gynäkologische Endokrinologie 13:110–114
  • Spiekermann M, Dieckmann KP, Balks, J, Bullerdiek J, Belge G. (2015) Is relative quantification dispensable for measurement of microRNAs as serum biomarkers in germ cell tumors? Anticancer Research 35:117-21
  • Spiekermann M, Belge G, Winter N, Ikogho R, Balks T, Bullerdiek J, Dieckmann KP. (2015). MicroRNA miR-371a-3p in serum of patients with germ cell tumours: evaluations for establishing a serum biomarker. Andrology 3:78-84
  • Teipel S, Ehlers I, Erbe A, Holzmann C, Lau E, Hauenstein K, Berger C. (2015) Structural Connectivity Changes Underlying Altered Working Memory Networks in Mild Cognitive Impairment: A Three-Way Image Fusion Analysis. J Neuroimaging 25:634-42

Buchbeiträge

2014

  • Holzmann C, Markowski DN, Koczan D, Küpker W, Helmke B and Bullerdiek J. (2014) Cytogenetically normal uterine leiomyomas without MED12-mutations - a source to identify unknown mechanisms of the development of uterine smooth muscle tumors. Molecular Cytogenetics 7:88.
  • Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D. (2014) Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC Med Genet. 15:127
  • Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. (2014) Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Human Mutation 35:1092–1100
  • Thiele K, Holzmann C, Solano E, Zahner G, and Arck PC (2014) Comparative sensitivity analyses of quantitative polymerase chain reaction and flow cytometry in detecting cellular microchimerism in murine tissues. Journal of Immunological Methods 406:74
  • Drosch M, Schmidt N, Markowski DN, Zollner TM, Koch M, Bullerdiek J. (2014) The CD24 hi smooth muscle subpopulation is the predominant fraction in uterine fibroids. Mol Hum Reprod 20:664
  • Holzmann C, Markowski DN, Koczan D, Helmke BM and Bullerdiek J  (2014) Genome-wide acquired uniparental disomy as well as chromosomal gains and losses in an uterine epithelioid leiomyoma. Mol Cytogenet 7: 19
  • Thies HW, Nolte I, Wenk H, Mertens F, Bullerdiek J, Markowski DN. (2014) Permanent activation of HMGA2 in lipomas mimics its temporal physiological activation linked to the gain of adipose tissue. Obesity 22:141-50
  • Markowski DN, Tadayyon M, Bartnitzke S, Belge G, Maria Helmke B, Bullerdiek J.(2014) Cell cultures in uterine leiomyomas: Rapid disappearance of cells carrying MED12 mutations. Genes Chromosomes Cancer 53:317
  • Klemke M, Müller MH, Wosniok W, Markowski DN, Nimzyk R, Helmke BM, Bullerdiek J. (2014) Correlated Expression of HMGA2 and PLAG1 in Thyroid Tumors, Uterine Leiomyomas and Experimental Models. PLoS One 9:e88126
  • Markowski DN, Helmke BM, Bartnitzke S, Löning T, and Bullerdiek J (2013) Uterine fibroids - do we deal with more than one disease? International Journal of Gynecological Pathology 6:568

2013

  • Bullerdiek J, Junghanss C, Dotzauer A (2013) Small but effective – trophoblast-derived mRNAs transported via exosomes as guardians against viral infections. Future Virology 8:1049-1052.
  • Markowski DN, Bullerdiek J. (2013) Chromothripsis in uterine leiomyomas. Comment on Characterization of uterine leiomyomas by whole-genome sequencing. N Engl J Med 369(22):2160
  • Gillis AJ, Rijlaarsdam MA, Eini R, Dorssers LC, Biermann K, Murray MJ, Nicholson JC, Coleman N, Dieckmann K, Belge G, Bullerdiek J, Xu T, Bernard N, Looijenga LH (2013) Targeted serum miRNA (TSmiR) test for diagnosis and follow-up of (testicular) germ cell cancer patients: A proof of principle. Molecular Oncology 7:1083
  • Markowski DN, Thies HW, Gottlieb A, Wenk H, Wischnewsky M, Bullerdiek J (2013) HMGA2 expression in white adipose tissue linking cellular senescence with diabetes. Genes Nutr 8:449
  • Müller MH, Drieschner N, Focken T, Bartnitzke S, Winter N, Klemke M, Bullerdiek J (2013) HMGA2 Expression in the PC-3 Prostate Cancer Cell Line Is Autonomous of Growth Factor Stimulation. Anticancer Res. 33:3069–3078.
  • Holzmann C, Bauer I, Meyer P (2013) Co-occurrence of multiple sclerosis and cancer in a BRCA1 positive family. Eur J Med Genet 56:577
  • Markowski DN, Nimzyk R, Belge G, Löning T, Helmke BM, Bullerdiek J (2013) Molecular topography of the MED12-deleted region in smooth muscle tumors: a possible link between non-B DNA structures and hypermutability. Mol Cytogenet 6:23.
  • Markowski DN, Huhle S, Nimzyk R, Stenman G, Löning T, Bullerdiek J (2013) MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors. Genes Chromosomes Cancer 52:297–304.
  • Kuhla A, Lange S, Holzmann C, Maass F, Petersen J, Vollmar B, et al. (2013) Lifelong caloric restriction increases working memory in mice. PloS one 8(7): e68778.
  • Hovakimyan M, Maass F, Petersen J, Holzmann C, Witt M, Lukas J, et al. (2013) Combined therapy with cyclodextrin/allopregnanolone and miglustat improves motor but not cognitive functions in Niemann-Pick Type C1 mice. Neuroscience 252:201
  • Kljajevic V, Meyer P, Holzmann C, Dyrba M, Kasper E, Bokde AL, Fellgiebel A, Meindl T, Hampel H, Teipel S, EDSD study group (2013) The ε4 genotype of apolipoprotein E and white matter integrity in Alzheimer's disease. Alzheimer's and dementia 10:401
  • Drosch M, Bullerdiek J, Zollner TM, Prinz F, Koch M, Schmidt N (2013) A novel mouse model that closely mimics human uterine leiomyomas. Fertil. Steril. 99:927-935.e6.

Buchbeiträge

 

2012

  • Holzmann C, Dräger D, Mix E, Hawlitschka A, Antipova V, Benecke R, Wree A (2012) Effects of intrastriatal botulinum neurotoxin A on the behavior of Wistar rats. Behav Brain Res. 234:107-16.

 

2010

  • Boy J, Schmidt T, Schumann U, Grasshoff U, Unser S, Holzmann C, Schmitt I, Karl T, Laccone F, Wolburg H, Ibrahim S, Riess O (2010) A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. Neurobiol Dis 37:284-293.
  • Klopocki E, Hennig BP, Dathe K, Koll R, de RT, Baten E, Blom E, Gillerot Y, Weigel JF, Kruger G, Hiort O, Seemann P, Mundlos S (2010) Deletion and point mutations of PTHLH cause brachydactyly type E. Am J Hum Genet 86:434-439.

 2009

  • Boy J, Schmidt T, Wolburg H, Mack A, Nuber S, Bottcher M, Schmitt I, Holzmann C, Zimmermann F, Servadio A, Riess O (2009) Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet 18:4282-4295.
  • Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Kruger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V (2009) Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet 17:420-425.
  • Stuhrmann M, Brakensiek K, Argyriou L, Boehm I, Hinderhofer K, Bauer I, Rhode BM, Maelzer M, Zuehlke C, Krueger G, Schmidtke J (2009) Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases. Eur J Hum Genet 17:417-419.

 2008

  • Mrasek K, Kruger G, Bauer I, Muller-Navia J, Liehr T, Weise A (2008) A new unbalanced chromosomal abnormality in 1q31.1 to 1q32 without phenotypic consequences. Cytogenet Genome Res 121:286-287.
  • Nguyen HP, Metzger S, Holzmann C, Koczan D, Thiesen H-J, von Hoersten S, Riess O, Bonin M (2008) Age-dependent gene expression profile and protein expression in a transgenic rat model of Huntington's disease. PROTEOMICS - CLINICAL APPLICATIONS 2:1638-1650.
  • Nuber S, Petrasch-Parwez E, Winner B, Winkler J, von HS, Schmidt T, Boy J, Kuhn M, Nguyen HP, Teismann P, Schulz JB, Neumann M, Pichler BJ, Reischl G, Holzmann C, Schmitt I, Bornemann A, Kuhn W, Zimmermann F, Servadio A, Riess O (2008) Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease. J Neurosci 28:2471-2484.
  • Schulz AL, Albrecht B, Arici C, van dB, I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hubner CA, Korenke GC, Konig R, Kress W, Krüger G, Meinecke P, Mucke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M (2008) Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet 73:62-70.

 

2006

  • Boy J, Leergaard TB, Schmidt T, Odeh F, Bichelmeier U, Nuber S, Holzmann C, Wree A, Prusiner SB, Bujard H, Riess O, Bjaalie JG (2006) Expression mapping of tetracycline-responsive prion protein promoter: Digital atlasing for generating cell-specific disease models. Neuroimage 33:449-462.
  • Kantor O, Temel Y, Holzmann C, Raber K, Nguyen HP, Cao C, Turkoglu HO, Rutten BP, Visser-Vandewalle V, Steinbusch HW, Blokland A, Korr H, Riess O, von HS, Schmitz C (2006) Selective striatal neuron loss and alterations in behavior correlate with impaired striatal function in Huntington's disease transgenic rats. Neurobiol Dis 22:538-547.
  • Nguyen HP, Kobbe P, Rahne H, Worpel T, Jager B, Stephan M, Pabst R, Holzmann C, Riess O, Korr H, Kantor O, Petrasch-Parwez E, Wetzel R, Osmand A, von HS (2006) Behavioral abnormalities precede neuropathological markers in rats transgenic for Huntington's disease. Hum Mol Genet 15:3177-3194.
  • J. Boy, T. Schmidt, T B. Leergaard, F Odeh, S Nuber, C Holzmann, S Ibrahim, I Schmitt, S Prusiner, J G. Bjaalie, O Rieß (2006) Inducible expression of ataxin-3 in a transgenic mouse model for Spinocerebellar Ataxia Type 3. Aktuelle Neurologie AKTUEL NEUROL 33:P284
  • J Boy, T. Schmidt, U Schumann, J Horst, TB Leergaard, F Odeh, S Nuber, S Beck, C Holzmann, S Ibrahim, U Grasshoff, I Schmitt (2006) Are neurodegerative processes in SCA3 reversible? A study using transgenic mouse models. Aktuelle Neurologie - AKTUEL NEUROL 34:V37

 

2005

 

  • Bauer A, Zilles K, Matusch A, Holzmann C, Riess O, von HS (2005) Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation. J Neurochem 94:639-650.
  • Steiner M, Seule M, Steiner B, Bauer I, Freund M, Kohne CH, Schuff-Werner P (2005) 5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case. J Clin Pathol 58:553-555.
  • Hering R, Petrovic S, Mietz EM, Holzmann C, Berg D, Bauer P, Woitalla D, Muller T, Berger K, Kruger R, Riess O (2004) Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease. Neurology 62:1231-1232.

 

2004

  • Huebner CA, Utermann B, Tinschert S, Kruger G, Ressler B, Steglich C, Schinzel A, Gal A (2004) Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Hum Mutat 23:526.

 

2003

  • Berg D, Holzmann C, Riess O (2003) 14-3-3 proteins in the nervous system. Nat Rev Neurosci 4:752-762.
  • Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schols L, Topka H, Riess O (2003) Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. Arch Neurol 60:1266-1270.
  • Holzmann C, Kruger R, Saecker AM, Schmitt I, Schols L, Berger K, Riess O (2003) Polymorphisms of the alpha-synuclein promoter: expression analyses and association studies in Parkinson's disease. J Neural Transm 110:67-76.
  • Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schols L, Schulz JB, Riess O, Kruger R (2003) Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 12:1223-1231.
  • Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, Schols L, Riess O (2003) Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54:367-375.
  • Schoels L, Bauer I, Zuhlke C, Schulte T, Kolmel C, Burk K, Topka H, Bauer P, Przuntek H, Riess O (2003) Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 54:110-115.
  • von Hoersten S, Schmitt I, Nguyen HP, Holzmann C, Schmidt T, Walther T, Bader M, Pabst R, Kobbe P, Krotova J, Stiller D, Kask A, Vaarmann A, Rathke-Hartlieb S, Schulz JB, Grasshoff U, Bauer I, Vieira-Saecker AM, Paul M, Jones L, Lindenberg KS, Landwehrmeyer B, Bauer A, Li XJ, Riess O (2003) Transgenic rat model of Huntington's disease. Hum Mol Genet 12:617-624.

 

2002

  • Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O (2002) Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype. Ann Neurol 51:662.
  • Rahner N, Holzmann C, Kruger R, Schols L, Berger K, Riess O (2002) Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease. Brain Res 951:82-86.
  • Ubl A, Berg D, Holzmann C, Kruger R, Berger K, Arzberger T, Bornemann A, Riess O (2002) 14-3-3 protein is a component of Lewy bodies in Parkinson's disease-mutation analysis and association studies of 14-3-3 eta. Brain Res Mol Brain Res 108:33-39.

 

2001

  • Holzmann C, Schmidt T, Thiel G, Epplen JT, Riess O (2001) Functional characterization of the human Huntington's disease gene promoter. Brain Res Mol Brain Res 92:85-97.

 2000

  • Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. (2000) Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
    Hum Genet 106(3):259-68

1998

  • Holzmann C, Maueler W, Petersohn D, Schmidt T, Thiel G, Epplen JT, Riess O (1998) Isolation and characterization of the rat huntingtin promoter. Biochem J 336 ( Pt 1):227-234.

 

1997

  • Holzmann C, Saecker AM, Epplen JT, Riess O (1997) Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene. J Med Genet 34:264.