Citation Impact
Citing Papers
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
2011
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease
2013
The evolution of image reconstruction for CT—from filtered back projection to artificial intelligence
2018
Treatment of MuSK-Associated Myasthenia Gravis
2014
Modulation of the W748S mutation in DNA polymerase γ by the E1143G polymorphismin mitochondrial disorders
2006
Neuroinflammation in neurodegenerative disorders: the roles of microglia and astrocytes
2020 Standout
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease
2016 Standout
The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease
2012
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
Diagnostic challenges of mitochondrial DNA disorders
2006
Immunosuppressive therapies in myasthenia gravis
2010
Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018
Myasthenia Gravis
2016 Standout
The advantages and disadvantages of being polyploid
2005 Standout
Single-cell-resolution transcriptome map of human, chimpanzee, bonobo, and macaque brains
2020 StandoutNobel
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Nrf2-Keap1 signaling in oxidative and reductive stress
2018 Standout
The role of autophagy in neurodegenerative disease
2013 Standout
European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society — First Revision
2010 Standout
Familial Parkinsonism and Ophthalmoplegia From a Mutation in the Mitochondrial DNA Helicase Twinkle
2007
PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin
2010 Standout
Applying genomic and transcriptomic advances to mitochondrial medicine
2021
Primary myopathies and the heart
2008
Gene expression in spermiogenesis
2005
Marine natural products
1990 Standout
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
Hallmarks of aging: An expanding universe
2023 Standout
Mitochondria and endoplasmic reticulum crosstalk in amyotrophic lateral sclerosis
2015
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
2011
Ageing as a risk factor for neurodegenerative disease
2019 Standout
Mitochondrial DNA polymerase-γ and human disease
2006
The Crystal Structure of Carnitine Palmitoyltransferase 2 and Implications for Diabetes Treatment
2006
B-cell depletion with rituximab in the treatment of autoimmune diseases
2007
Mitochondrial DNA and disease
2005
The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome
2010
Use and monitoring of low dose rituximab in myasthenia gravis
2010
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
Mitochondria: In Sickness and in Health
2012 Standout
Natural products to drugs: natural product-derived compounds in clinical trials
2008 Standout
Finding twinkle in the eyes of a 71‐year‐old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE‐related dominant disease
2009
Preparing Medical Imaging Data for Machine Learning
2020 Standout
Efficacy and safety of rituximab for myasthenia gravis: a systematic review and meta-analysis
2014
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
From the Sea to Anticancer Therapy
2011
Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome
2007
Ataxia in mitochondrial disorders
2011
Characterization of CD4 and CD8 T cell responses in MuSK myasthenia gravis
2014
Mechanisms of mitophagy
2010 Standout
Human mitochondrial RNA polymerase: Structure–function, mechanism and inhibition
2012
Mitochondrial DNA and the Mammalian Oocyte
2007
Myasthenia gravis
2019 Standout
Updated consensus statement on biological agents for the treatment of rheumatic diseases, 2010
2011 Standout
Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series
2010 Standout
Structures of membrane proteins
2010 StandoutNobel
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
New strategies for the treatment of lysosomal storage diseases (Review)
2012
EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases
2008
The Sorry State of F2 Hybrids: Consequences of Rapid Mitochondrial DNA Evolution in Allopatric Populations
2006
Prevalence of mitochondrial DNA disease in adults
2007
Molecular enzymology of carnitine transfer and transport
2001
SANDO: Two novel mutations in POLG1 gene
2006
Deficient Induction Response in a Xenopus Nucleocytoplasmic Hybrid
2011 StandoutNobel
A computational approach for predicting off-target toxicity of antiviral ribonucleoside analogues to mitochondrial RNA polymerase
2018 StandoutNobel
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Ghrelin: Structure and Function
2005 Standout
Mitochondria and cancer
2012 Standout
Myasthenia gravis: subgroup classification and therapeutic strategies
2015 Standout
Pharmacotherapy of Pompe disease
2013
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards
2017
Durability of the Rituximab Response in Acetylcholine Receptor Autoantibody–Positive Myasthenia Gravis
2016
Rituximab treatment of myasthenia gravis: A systematic review
2017
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
2019
Structural basis of fumarate hydratase deficiency
2011
Sudden Deafness and Anterior Inferior Cerebellar Artery Infarction
2002
The rise and rise of mitochondrial DNA mutations
2020
The Chemistry of Reactive Oxygen Species (ROS) Revisited: Outlining Their Role in Biological Macromolecules (DNA, Lipids and Proteins) and Induced Pathologies
2021 Standout
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
2008
Biology of Oligodendrocyte and Myelin in the Mammalian Central Nervous System
2001 Standout
Therapeutic strategies for congenital myasthenic syndromes
2018
Oxidative stress, mitochondrial damage and neurodegenerative diseases.
2013 Standout
Natural product and natural product derived drugs in clinical trials
2014 Standout
Diagnostic criteria for Menière's disease
2015 Standout
Impact of Natural Products on Developing New Anti-Cancer Agents
2009 Standout
Aplidine: A Paradigm of how to Handle the Activity and Toxicity of a Novel Marine Anticancer Poison
2007
AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models
2015
Immune-mediated pathology in Duchenne muscular dystrophy
2015
Mitochondrial Energetics and Therapeutics
2010
Inherited Mitochondrial Diseases of DNA Replication
2007
NLRP3 inflammasome is expressed by astrocytes in the SOD1 mouse model of ALS and in human sporadic ALS patients
2015
Works of Marcus Deschauer being referenced
Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial
2013
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
2003
Energetic depression caused by mitochondrial dysfunction
2003
Genetics of Carnitine Palmitoyltransferase II Deficiencies
2006
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis
2013
Cognitive impairment, clinical severity and MRI changes in MELAS syndrome
2017
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
2005
Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
2005
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism
2005
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
2009
Radiation dose reduction for CT-guided intrathecal nusinersen administration in adult patients with spinal muscular atrophy
2020
Molecular and biochemical investigations in fumarase deficiency
2006
Successful treatment of MuSK antibody–positive myasthenia gravis with rituximab
2005
Cardiac involvement in limb-girdle muscular dystrophy 2I
2006
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis
2012
„Seronegative“ Myasthenie mit Antikörpern gegen die muskelspezifische Tyrosin-Kinase
2004
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
2009
Risk of developing a mitochondrial DNA deletion disorder
2004
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy
2015
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle
2014
Hörverlust als Leitsymptom von Arteria cerebelli inferior anterior-lnfarkten
1998
Carnitine palmitoyltransferase II deficiency
2003
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA
2003
Pure myopathy associated with a novel mitochondrial tRNA gene mutation
2006
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level
2019
POLG1 , C10ORF2 , and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
2006
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
2012