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Ralf Krahe
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Sensitive and quantitative universal Pyrosequencing™ methylation analysis of CpG sites
S Colella, L Shen, KA Baggerly, JPJ Issa, R Krahe
Biotechniques 35 (1), 146-150, 2003
5902003
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
B Udd, R Krahe
The Lancet Neurology 11 (10), 891-905, 2012
5512012
Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics
K Virtaneva, FA Wright, SM Tanner, B Yuan, WJ Lemon, MA Caligiuri, ...
Proceedings of the National Academy of Sciences 98 (3), 1124-1129, 2001
3732001
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1
M Aminoff, JE Carter, RB Chadwick, C Johnson, R Gräsbeck, ...
Nature genetics 21 (3), 309-313, 1999
3171999
The intrinsic factor–vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein AI receptor facilitating endocytosis of high-density lipoprotein
R Kozyraki, J Fyfe, M Kristiansen, C Gerdes, C Jacobsen, S Cui, ...
Nature medicine 5 (6), 656-661, 1999
3121999
Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: Evidence for its fusion with MLL in acute myeloid leukemia
PJ Kourlas, MP Strout, B Becknell, ML Veronese, CM Croce, KS Theil, ...
Proceedings of the National Academy of Sciences 97 (5), 2145-2150, 2000
2982000
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
G Van Goethem, P Luoma, M Rantamaki, A Al Memar, S Kaakkola, ...
Neurology 63 (7), 1251-1257, 2004
2832004
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2)
G Meola, V Sansone, D Perani, S Scarone, S Cappa, C Dragoni, ...
Neuromuscular Disorders 13 (10), 813-821, 2003
2782003
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
CA Boucher, SK King, N Carey, R Krahe, CL Winchester, S Rahman, ...
Human molecular genetics 4 (10), 1919-1925, 1995
2341995
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
K Virtaneva, E D'Amato, J Miao, M Koskiniemi, R Norio, G Avanzini, ...
Nature genetics 15 (4), 393-396, 1997
2271997
Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2
A Vihola, G Bassez, G Meola, S Zhang, H Haapasalo, A Paetau, ...
Neurology 60 (11), 1854-1857, 2003
2052003
Mutations in KERA, encoding keratocan, cause cornea plana
NS Pellegata, JL Dieguez-Lucena, T Joensuu, S Lau, KT Montgomery, ...
Nature genetics 25 (1), 91-95, 2000
1942000
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
JS Müller, A Herczegfalvi, JJ Vilchez, J Colomer, LL Bachinski, ...
Brain 130 (6), 1497-1506, 2007
1772007
Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing
R Krahe, T Ashizawa, C Abbruzzese, E Roeder, P Carango, M Giacanelli, ...
Genomics 28 (1), 1-14, 1995
1741995
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
T Suominen, LL Bachinski, S Auvinen, P Hackman, KA Baggerly, ...
European journal of human genetics 19 (7), 776-782, 2011
1722011
Splicing factors PTBP1 and PTBP2 promote proliferation and migration of glioma cell lines
HC Cheung, T Hai, W Zhu, KA Baggerly, S Tsavachidis, R Krahe, GJ Cote
Brain 132 (8), 2277-2288, 2009
1672009
Confirmation of the type 2 myotonic dystrophy (CCTG) n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins …
LL Bachinski, B Udd, G Meola, V Sansone, G Bassez, B Eymard, ...
The American Journal of Human Genetics 73 (4), 835-848, 2003
1612003
Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
B Udd, R Krahe, C Wallgren-Pettersson, B Falck, H Kalimo
Neuromuscular Disorders 7 (4), 217-228, 1997
1581997
Genome-wide hypomethylation in head and neck cancer is more pronounced in HPV-negative tumors and is associated with genomic instability
KL Richards, B Zhang, KA Baggerly, S Colella, JC Lang, DE Schuller, ...
PloS one 4 (3), e4941, 2009
1512009
A draft annotation and overview of the human genome
FA Wright, WJ Lemon, WD Zhao, R Sears, D Zhuo, JP Wang, HY Yang, ...
Genome biology 2, 1-18, 2001
1482001
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