Citation Impact
Citing Papers
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
2015 Science
Alteration of enzyme specificity by computational loop remodeling and design
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EglN2 associates with the NRF 1‐ PGC 1α complex and controls mitochondrial function in breast cancer
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2010
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2020 StandoutNatureNobel
Tuning the Transcriptional Response to Hypoxia by Inhibiting Hypoxia-inducible Factor (HIF) Prolyl and Asparaginyl Hydroxylases
2016 StandoutNobel
Modulation of the W748S mutation in DNA polymerase γ by the E1143G polymorphismin mitochondrial disorders
2006
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2016 Standout
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2009
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Circulating mitochondrial DAMPs cause inflammatory responses to injury
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2018
Do defecs in mitochondrial energy metabolism underlie the pathology of neurodegenerative diseases?
1993
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study
2001
Mitochondrial DNA mutations in human degenerative diseases and aging
1995
The Failing Heart — An Engine Out of Fuel
2007 Standout
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function
2002
Revisiting the TCA cycle: signaling to tumor formation
2011
Premature ageing in mice expressing defective mitochondrial DNA polymerase
2004 StandoutNature
Mitochondrial diabetes mellitus: a review
1995
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
Emerging roles of tRNA in adaptive translation, signalling dynamics and disease
2014
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation
2012 StandoutNatureNobel
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
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Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy
2015
Mechanisms Controlling Mitochondrial Biogenesis and Respiration through the Thermogenic Coactivator PGC-1
1999 Standout
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2010
The muscular dystrophies
2002 Standout
Deleterious mitochondrial DNA mutations accumulate in aging human tissues
1992
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
2011
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
2011 Standout
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2005
Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease
1992
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
2009 StandoutNature
Are mitochondria critical in the pathogenesis of Alzheimer's disease?
2005
Autophagy: Renovation of Cells and Tissues
2011 Standout
Analysis of mtDNA Copy Number and Composition of Single Mitochondrial Particles Using Flow Cytometry and PCR
2000
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Mitochondria: In Sickness and in Health
2012 Standout
What a difference a hydroxyl makes: mutant IDH, (R)-2-hydroxyglutarate, and cancer
2013 StandoutNobel
Dynamic RNA Modifications in Gene Expression Regulation
2017 Standout
Piezos thrive under pressure: mechanically activated ion channels in health and disease
2017 StandoutNobel
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
2016 Standout
Massively parallel determination and modeling of endonuclease substrate specificity
2014 StandoutNobel
Uterine fibroids
2001 Standout
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
2010
Arthrogryposis: A Review and Update
2009
Autophagy in Human Health and Disease
2013 Standout
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d ‐2‐hydroxyglutaric aciduria
2002
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Alzheimer's disease
2006 Standout
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
1996
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
1999
The AAV-mediated and RNA-guided CRISPR/Cas9 system for gene therapy of DMD and BMD
2017
Applications of CRISPR technologies in research and beyond
2016 StandoutNobel
Understanding the Intersections between Metabolism and Cancer Biology
2017 Standout
Mitochondrial dynamics and inheritance during cell division, development and disease
2014
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
The Myelin Mutants as Models to Study Myelin Repair in the Leukodystrophies
2011
Metabolic dysregulation in monogenic disorders and cancer — finding method in madness
2015
Pyrimidine pathways in health and disease
2005
The Hallmarks of Aging
2013 Standout
CRISPR-Based Technologies for the Manipulation of Eukaryotic Genomes
2016 Standout
Excitatory Amino Acids as a Final Common Pathway for Neurologic Disorders
1994 Standout
Piezo2 senses airway stretch and mediates lung inflation-induced apnoea
2016 StandoutNatureNobel
Polymyositis and dermatomyositis
2003 Standout
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
2008
Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes
2017 StandoutNobel
Idiopathic inflammatory myopathies: epidemiology, classification, and diagnostic criteria
2002
Metabolic cardiomyopathies
2000
Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata
1994
Safety Pharmacology and Genotoxicity Evaluation of AVI-4658
2010
Mitochondrial Mayhem: The Mitochondrion as a Modulator of Iron Metabolism and Its Role in Disease
2011
Frataxin Deficiency Leads to Defects in Expression of Antioxidants and Nrf2 Expression in Dorsal Root Ganglia of the Friedreich's Ataxia YG8R Mouse Model
2013
Gene Correction of a Duchenne Muscular Dystrophy Mutation by Meganuclease-Enhanced Exon Knock-In
2013
Oxidative damage and mitochondrial decay in aging.
1994 Standout
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation
2015
Mutation of the mouse klotho gene leads to a syndrome resembling ageing.
1997 Standout
Impaired mitochondrial transport and Parkin-independent degeneration of respiratory chain-deficient dopamine neurons in vivo
2011
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
2005 StandoutScience
Mitochondrial disorders: Prevalence, myths and advances
2004
Mitochondrial Genetics: A Paradigm for Aging and Degenerative Diseases?
1992 Science
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Lipoic acid biosynthesis defects
2014
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Endogenously oxidized mitochondrial DNA induces in vivo and in vitro inflammatory responses
2004
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Mitochondrial Dysfunction and Type 2 Diabetes
2005 StandoutScience
Metabolic reprogramming and cancer progression
2020 StandoutScience
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.
1994
Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication
2001
The development of mitochondrial medicine.
1994
Consensus Statement for Standard of Care in Spinal Muscular Atrophy
2007
Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress
1997 Standout
Respiratory chain complex I deficiency
1999
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.
1992
Mitochondrial DNA mutations in disease and aging
2011
Increased mitochondrial mass in mitochondrial myopathy mice
2002
Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease
2012
Mitophagy confers resistance to siderophore-mediated killing by Pseudomonas aeruginosa
2015 StandoutNobel
Late-Onset Corticohippocampal Neurodepletion Attributable to Catastrophic Failure of Oxidative Phosphorylation in MILON Mice
2001
Works of M. Tulinius being referenced
Progressive Encephalopathy and Complex I Deficiency Associated with Mutations in MTND1
2008
Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome
1990
Mitochondrial encephalomyopathies in childhood. I. Biochemical and morphologic investigations
1991
Leigh Syndrome with Cytochrome-c Oxidase Deficiency and a Single T Insertion nt 5537 in the Mitochondrial tRNATrpGene
2003
Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy
2009
Mitochondrial ATP-Synthase Deficiency in a Child with 3-Methylglutaconic Aciduria
1992
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden
2000
Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy
2011
Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III
2001
POLG1Mutations Associated With Progressive Encephalopathy in Childhood
2006
Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally
2008
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas
1995
Threshold expression of the tRNALys A8344G mutation in single muscle fibres
1998
Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres
1992
Cardiomyopathy and Exercise Intolerance in Muscle Glycogen Storage Disease 0
2007
Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes
1991
Mitochondrial Encephalomyopathies
2003
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
2005
Neuropathology in Kearns-Sayre syndrome
1990
Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome
1990
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
2001
Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation
2007
The incidence of mitochondrial encephalomyopathies in childhood: Clinical features and morphological, biochemical, and DNA abnormalities
2001
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
1993
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.
1992
T.O.4 A phase I/IIa study on antisense compound PRO051 in patients with Duchenne muscular dystrophy
2009