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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68

2014

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

Ophthalmology (Rochester, Minn.), 2010-08, Vol.117 (8), p.1538-1546.e1

2010

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

Journal of neurology, 2011-11, Vol.258 (11), p.1987-1997

2011

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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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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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Early muscle and brain ultrastructural changes in polymerase gamma 1‐related encephalomyopathy

Neuropathology, 2013-02, Vol.33 (1), p.59-67

2013

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

Journal of neurology, 2009-05, Vol.256 (5), p.810-815

2009

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

Journal of neurology, neurosurgery and psychiatry, 2012-02, Vol.83 (2), p.174-178

2012

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

Neuromuscular disorders : NMD, 2011-11, Vol.21 (11), p.803-808

2011

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

Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.183-195

2011

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

Brain (London, England : 1878), 2012-12, Vol.135 (12), p.3614-3626

2012

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

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.197-201

2011

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OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

Neurology, 2012-10, Vol.79 (14), p.1515

2012

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

Mitochondrion, 2011-01, Vol.11 (1), p.182-190

2011

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

Journal of neurology, 2010-09, Vol.257 (9), p.1517-1523

2010

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Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

Journal of neurology, 2009-05, Vol.256 (5), p.810-815

2009

Volltextzugriff (PDF)

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

Muscle & nerve, 2013-02, Vol.47 (2), p.308-309

2013

Volltextzugriff (PDF)

Clinical and neuropathological findings in patients with TACO1 mutations

Neuromuscular disorders : NMD, 2010-11, Vol.20 (11), p.720-724

2010

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

Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.345-348

2010

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Respiratory chain deficiency in nonmitochondrial disease

Neurology. Genetics, 2015-06, Vol.1 (1), p.e6-e6

2015

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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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ESC, ESCL and their roles in Polycomb Group mechanisms

Mechanisms of development, 2008-05, Vol.125 (5-6), p.527-541

2008

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NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

JIMD Reports - Volume 10, 2013, Vol.10, p.17-22

2013

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Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

Muscle & nerve, 2013, Vol.47 (2), p.308-309

2013

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

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

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

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

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

Early muscle and brain ultrastructural changes in polymerase gamma 1‐related encephalomyopathy

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

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

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

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

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

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

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

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

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

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

Clinical and neuropathological findings in patients with TACO1 mutations

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

Respiratory chain deficiency in nonmitochondrial disease

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

ESC, ESCL and their roles in Polycomb Group mechanisms

NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

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