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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Annals of neurology, 2013-12, Vol.74 (6), p.914-919

2013

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Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Nature (London), 2011-10, Vol.478 (7367), p.127-131

2011

Volltextzugriff (PDF)

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Annals of neurology, 2012-09, Vol.72 (3), p.433-441

2012

Volltextzugriff (PDF)

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

American journal of human genetics, 2012-10, Vol.91 (4), p.729-736

2012

Volltextzugriff (PDF)

Cellular response to hypoxia involves signaling via Smad proteins

Blood, 2003-03, Vol.101 (6), p.2253-2260

2003

Volltextzugriff (PDF)

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

Neuromuscular disorders : NMD, 2009-03, Vol.19 (3), p.207-211

2009

Volltextzugriff (PDF)

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Human molecular genetics, 2018-10, Vol.27 (19), p.3305-3312

2018

Volltextzugriff (PDF)

Branching enzyme deficiency: expanding the clinical spectrum

JAMA neurology, 2014-01, Vol.71 (1), p.41

2014

Volltextzugriff (PDF)

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Human molecular genetics, 2009-02, Vol.18 (4), p.714-722

2009

Volltextzugriff (PDF)

Circulating endothelial progenitor cells in multiple myeloma: implications and significance

Blood, 2005-04, Vol.105 (8), p.3286-3294

2005

Volltextzugriff (PDF)

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

EBioMedicine, 2019-08, Vol.46, p.356-367

2019

Volltextzugriff (PDF)

OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma

JCI insight, 2024-03, Vol.9 (8)

2024

Volltextzugriff (PDF)

Fhl1 W122S causes loss of protein function and late-onset mild myopathy

Human molecular genetics, 2015-02, Vol.24 (3), p.714-726

2015

Volltextzugriff (PDF)

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature

Journal of child neurology, 2014-10, Vol.29 (10), p.NP105-NP110

2014

Volltextzugriff (PDF)

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

Neuromuscular disorders : NMD, 2010-06, Vol.20 (6), p.397-402

2010

Volltextzugriff (PDF)

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Journal of the neurological sciences, 2013-01, Vol.324 (1), p.179-182

2013

Volltextzugriff (PDF)

Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy

Journal of child neurology, 2013-02, Vol.28 (2), p.264-268

2013

Volltextzugriff (PDF)

Muscle phosphorylase b kinase deficiency revisited

Neuromuscular disorders : NMD, 2010-02, Vol.20 (2), p.125-127

2010

Volltextzugriff (PDF)

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

Neuromuscular disorders : NMD, 2004-04, Vol.14 (4), p.253-260

2004

Volltextzugriff (PDF)

Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA

Journal of child neurology, 2007-07, Vol.22 (7), p.858-862

2007

Volltextzugriff (PDF)

Effects of Resveratrol in Storage Solution on Adhesion Molecule Expression and Nitric Oxide Synthesis in Vein Grafts

The Annals of thoracic surgery, 2005-11, Vol.80 (5), p.1773-1778

2005

Volltextzugriff (PDF)

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene

Archives of neurology (Chicago), 2012-05, Vol.69 (5), p.657

2012

Volltextzugriff (PDF)

Muscle phosphoglycerate mutase deficiency revisited

Archives of neurology (Chicago), 2009-03, Vol.66 (3), p.394

2009

Volltextzugriff (PDF)

Juvenile Alpers disease

Archives of neurology (Chicago), 2008-01, Vol.65 (1), p.121

2008

Volltextzugriff (PDF)

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase

Pediatric research, 2007-10, Vol.62 (4), p.499-504

2007

Volltextzugriff (PDF)

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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation

Cellular response to hypoxia involves signaling via Smad proteins

Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Branching enzyme deficiency: expanding the clinical spectrum

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Circulating endothelial progenitor cells in multiple myeloma: implications and significance

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency

OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma

Fhl1 W122S causes loss of protein function and late-onset mild myopathy

Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature

Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene

Acute but transient neurological deterioration revealing adult polyglucosan body disease

Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy

Muscle phosphorylase b kinase deficiency revisited

Fatal infantile neuromuscular presentation of glycogen storage disease type IV

Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA

Effects of Resveratrol in Storage Solution on Adhesion Molecule Expression and Nitric Oxide Synthesis in Vein Grafts

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene

Muscle phosphoglycerate mutase deficiency revisited

Juvenile Alpers disease

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase

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