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

Brain (London, England : 1878), 2010-03, Vol.133 (3), p.771-786

2010

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

Neurology, 2010-05, Vol.74 (20), p.1619

2010

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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Neurology, 2011-06, Vol.76 (23), p.2032

2011

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

Biochimica et biophysica acta, 2009-12, Vol.1792 (12), p.1109-1112

2009

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

Acta neurologica Scandinavica, 2010-02, Vol.121 (2), p.131-135

2010

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

Cell, 2002-10, Vol.111 (2), p.185-196

2002

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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment

Neuromuscular disorders : NMD, 2011, Vol.21, p.S25-S25

2011

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P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.677-677

2010

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P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle

Neuromuscular disorders : NMD, 2011, Vol.21, p.S23-S23

2011

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P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?

Neuromuscular disorders : NMD, 2010, Vol.20, p.S26-S26

2010

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

Neuromuscular disorders : NMD, 2010-03, Vol.20, p.S25-S25

2010

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

EMBO reports, 2001-10, Vol.2 (10), p.915-919

2001

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003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

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

Biochemistry (Easton), 2004-03, Vol.43 (12), p.3740-3749

2004

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The sounds of silence--histone deacetylation meets histone methylation

Genetica, 2003-03, Vol.117 (2-3), p.159-164

2003

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P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome

European journal of paediatric neurology, 2013-09, Vol.17, p.S103-S103

2013

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P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU

European journal of paediatric neurology, 2011-05, Vol.15, p.S45-S46

2011

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family

Neuromuscular disorders : NMD, 2010, Vol.20, p.S25-S25

2010

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Mit Haken und Ösen. Physik des Kletterns

Physik in unserer Zeit, 2001-03, Vol.32 (2), p.62-68

2001

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Mit Haken und Ösen: Die Physik des Kletterns

Physik in unserer Zeit, 2001, Vol.32 (2), p.62-68

2001

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

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

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

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

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

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

P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment

P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle

P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

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

003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene

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

The sounds of silence--histone deacetylation meets histone methylation

P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome

P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family

Mit Haken und Ösen. Physik des Kletterns

Mit Haken und Ösen: Die Physik des Kletterns

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