Author

Birgit Czermin

Observed names: B Czermin, B. Czermin, Czermin, Birgit

Institutions: University Hospital Centre Zagreb, University of Freiburg, University of Zagreb, University Medical Center Freiburg, Klinikum Mittelbaden, Medical Genetics Center, Orszagos Kornyezetegeszsegugyi Intezet, Wellcome Centre for Mitochondrial Research, Newcastle University

Observed institutions: University of Copenhagen, University Hospital Centre Zagreb, University of Freiburg, University of Zagreb, Royal Victoria Infirmary, Churchill Hospital, University Medical Center Freiburg, Glostrup Hospital, University of Oxford, Kennedy Center, Klinikum Mittelbaden, Salford Royal Hospital, Medical Genetics Center, Orszagos Kornyezetegeszsegugyi Intezet, Wellcome Centre for Mitochondrial Research, Adolf-Butenandt-Institut für Physiologische Chemie, Physikalische Biochemie und Zellbiologie, University College London, Ludwig-Maximilians-Universität München, Newcastle University

OpenAlex ID: A5087603551

Drosophila Enhancer of Zeste/ESC Complexes Have a Histone H3 Methyltransferase Activity that Marks Chromosomal Polycomb Sites

2002 · Birgit Czermin, Raffaella Melfi, et al. · Cell · 1,580

PDF

Multi-system neurological disease is common in patients with OPA1 mutations

2010 · P. Yu-Wai-Man, P.G. Griffiths, et al. · Brain · 455

PDF

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

2014 · Robert W. Taylor, Angela Pyle, et al. · JAMA · 373

Physical and functional association of SU(VAR)3‐9 and HDAC1 in Drosophila

2001 · Birgit Czermin, Gunnar Schotta, et al. · EMBO Reports · 261

PDF

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

2010 · Patrick Yu-Wai-Man, Philip G. Griffiths, et al. · Ophthalmology · 205

Adult-onset cerebellar ataxia due to mutations inCABC1/ADCK3

2011 · Rita Horvath, Birgit Czermin, et al. · Journal of Neurology Neurosurgery & Psychiatry · 112

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

2010 · C. Fratter, G.S. Gorman, et al. · Neurology · 95

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

2011 · Peter Reilich, Rita Horvath, et al. · Journal of Neurology · 94

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

2011 · Johannes A. Mayr, Franz A. Zimmermann, et al. · Neuromuscular Disorders · 76

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

2010 · John P. Kemp, Paul M. Smith, et al. · Brain · 74

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

2010 · Ulrike Schara, Jürgen‐Christoph von Kleist‐Retzow, et al. · Journal of Inherited Metabolic Disease · 69

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

2011 · C. Fratter, P. Raman, et al. · Neurology · 68

PDF

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

2012 · Vivienne C. M. Neeve, David C. Samuels, et al. · Brain · 64

PDF

ESC, ESCL and their roles in Polycomb Group mechanisms

2008 · Katsuhito Ohno, Donna McCabe, et al. · Mechanisms of Development · 49

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

2009 · J. Poulton, M. Hirano, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 46

PDF

Clinical and neuropathological findings in patients with TACO1 mutations

2010 · Jürgen Seeger, Bertold Schrank, et al. · Neuromuscular Disorders · 44

The N-Terminus of Drosophila SU(VAR)3−9 Mediates Dimerization and Regulates Its Methyltransferase Activity

2004 · Ragnhild Eskeland, Birgit Czermin, et al. · Biochemistry · 43

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2

2010 · Maggie C. Walter, Birgit Czermin, et al. · Journal of Neurology · 41

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

2010 · Helen A.L. Tuppen, Janev Fehmi, et al. · Molecular Genetics and Metabolism · 37

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

2009 · C. Kornblum, G. G. Lutterbey, et al. · Acta Neurologica Scandinavica · 34

PDF

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAVal causing MNGIE-like gastrointestinal dysmotility and cachexia

2009 · Rita Horváth, Andreas Bender, et al. · Journal of Neurology · 34

Respiratory chain deficiency in nonmitochondrial disease

2015 · Angela Pyle, Helen J. Nightingale, et al. · Neurology Genetics · 27

PDF

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

2010 · Enrico Baruffini, Rita Horvath, et al. · Mitochondrion · 24

2012 · Adela Della Marina, Ulrike Schara, et al. · JIMD Reports · 17

The Sounds of Silence – Histone Deacetylation Meets hisTone Methylation

2003 · Birgit Czermin, Axel Imhof · Genetica · 17

Works count: 43

Citation count: 3,964

H-index: 23

I10-index: 26