Citation Impact
Citing Papers
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
2008 StandoutScience
Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons
2008 StandoutScience
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Crystal Structure of the Second LNS/LG Domain from Neurexin 1α
2006 StandoutNobel
Redox Biochemistry of Hydrogen Sulfide
2010
Structure of the TRPA1 ion channel suggests regulatory mechanisms
2015 StandoutNatureNobel
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
2017
LRRTM2 Functions as a Neurexin Ligand in Promoting Excitatory Synapse Formation
2009 StandoutNobel
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
2008
The mitochondrial UPR: mechanisms, physiological functions and implications in ageing
2017
Critical illness myopathy and neuropathy
2005
Mechanisms Underlying Inflammation in Neurodegeneration
2010 Standout
Caenorhabditis elegans pathways that surveil and defend mitochondria
2014 StandoutNatureNobel
Neural mitochondrial Ca2+ capacity impairment precedes the onset of motor symptoms in G93A Cu/Zn‐superoxide dismutase mutant mice
2006
The genetics of ageing
2010 StandoutNature
A Splice Code for trans-Synaptic Cell Adhesion Mediated by Binding of Neuroligin 1 to α- and β-Neurexins
2005 StandoutNobel
Premature ageing in mice expressing defective mitochondrial DNA polymerase
2004 StandoutNature
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
2010
Presynaptic Neurexin-3 Alternative Splicing trans-Synaptically Controls Postsynaptic AMPA Receptor Trafficking
2013 StandoutNobel
Lifespan extension in genetically modified mice
2009
Neural mechanisms of ageing and cognitive decline
2010 Nature
Hallmarks of aging: An expanding universe
2023 Standout
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
2006
Muscle Mitohormesis Promotes Longevity via Systemic Repression of Insulin Signaling
2013
Inactivation of Conserved C. elegans Genes Engages Pathogen- and Xenobiotic-Associated Defenses
2012 StandoutNobel
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
2001
C. elegans Major Fats Are Stored in Vesicles Distinct from Lysosome-Related Organelles
2009 StandoutNobel
Tipping the metabolic scales towards increased longevity in mammals
2015
Axis of ageing: telomeres, p53 and mitochondria
2012
Extension of Drosophila Life Span by RNAi of the Mitochondrial Respiratory Chain
2009
Dysferlin and the plasma membrane repair in muscular dystrophy
2004
Mitochondria: In Sickness and in Health
2012 Standout
Chapter 1 The Molecular Links Between TDP‐43 Dysfunction and Neurodegeneration
2009
Decoding ALS: from genes to mechanism
2016 StandoutNature
RIBEYE, a Component of Synaptic Ribbons
2000 StandoutNobel
Mechanisms of mitochondrial diseases
2011
In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
2011
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study
2004
Genetics, environmental factors and the emerging role of epigenetics in neurodegenerative diseases
2008
A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter
2011 StandoutNature
Reactive oxygen species trigger motoneuron death in non-cell-autonomous models of ALS through activation of c-Abl signaling
2015
Mitochondrial Localization of Mutant Superoxide Dismutase 1 Triggers Caspase-dependent Cell Death in a Cellular Model of Familial Amyotrophic Lateral Sclerosis
2002
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease
1990
Therapy for mitochondrial disorders: Little proof, high research activity, some promise
2011
Molecular chaperones in protein folding and proteostasis
2011 StandoutNature
Evolutionarily Conserved Multiple C2 Domain Proteins with Two Transmembrane Regions (MCTPs) and Unusual Ca2+ Binding Properties
2004 StandoutNobel
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
2001
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
2012 StandoutNobel
Functional Disability 5 Years after Acute Respiratory Distress Syndrome
2011 Standout
Localization of dystrophin and β-dystroglycan in bovine retinal photoreceptor processes extending into the postsynaptic dendritic complex
1997
Neuroligins and neurexins link synaptic function to cognitive disease
2008 StandoutNatureNobel
Mouse models for mitochondrial disease
2001
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases
2006 StandoutNature
Progress in the pathogenesis of amyotrophic lateral sclerosis
2001
Luminal sulfide and large intestine mucosa: friend or foe?
2009
Molecular mechanisms of muscular dystrophies: old and new players
2006
ALS-associated mutant SOD1G93A causes mitochondrial vacuolation by expansion of the intermembrane space and by involvement of SOD1 aggregation and peroxisomes
2003
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
1990 StandoutNature
Chapter 13 Long‐Range Gene Control and Genetic Disease
2008
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Resveratrol Improves Mitochondrial Function and Protects against Metabolic Disease by Activating SIRT1 and PGC-1α
2006 Standout
The Hallmarks of Aging
2013 Standout
High levels of mitochondrial DNA deletions in skeletal muscle of old rhesus monkeys
1995
A Surveillance Function of the HSPB8-BAG3-HSP70 Chaperone Complex Ensures Stress Granule Integrity and Dynamism
2016
Mutated Human SOD1 Causes Dysfunction of Oxidative Phosphorylation in Mitochondria of Transgenic Mice
2002
A Putative Src Homology 3 Domain Binding Motif but Not the C-terminal Dystrophin WW Domain Binding Motif Is Required for Dystroglycan Function in Cellular Polarity in Drosophila
2007 StandoutNobel
A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
1999
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
2006
Single-cell transcriptomic analysis of Alzheimer’s disease
2019 StandoutNature
Frailty in elderly people
2013 Standout
Amyotrophic Lateral Sclerosis
2001 Standout
Spatial partitioning of the regulatory landscape of the X-inactivation centre
2012 StandoutNature
The Cell-Non-Autonomous Nature of Electron Transport Chain-Mediated Longevity
2011
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
2003 StandoutNatureNobel
A Regulated Response to Impaired Respiration Slows Behavioral Rates and Increases Lifespan in Caenorhabditis elegans
2009
Mutations of ANT1 , Twinkle , and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
2003
Physiological Implications of Hydrogen Sulfide: A Whiff Exploration That Blossomed
2012 Standout
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.
1989
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
2005 Standout
DNA analysis of an early modern human from Tianyuan Cave, China
2013 StandoutNobel
Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
1999
DNA Polymerase γ in Mitochondrial DNA Replication and Repair
2005
Mitochondria: The Hub of Cellular Ca2+Signaling
2008
Dialogue between E. coli free radical pathways and the mitochondria of C. elegans
2015 StandoutNobel
Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging
2005 StandoutScience
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
1999 Science
Cytochrome-c-oxidase deficient cardiomyocytes in the human heart--an age-related phenomenon. A histochemical ultracytochemical study.
1989
Mitochondrial Disorders in the Nervous System
2008
A stoichiometric complex of neurexins and dystroglycan in brain
2001 StandoutNobel
Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation.
2003
Biochemistry and Evolution of Anaerobic Energy Metabolism in Eukaryotes
2012
The Caenorhabditis elegans ARIP-4 DNA helicase couples mitochondrial surveillance to immune, detoxification, and antiviral pathways
2022 StandoutNobel
Spermidine in health and disease
2018 StandoutScience
Cysteine-Mediated Redox Signaling: Chemistry, Biology, and Tools for Discovery
2013
Disease Tolerance as a Defense Strategy
2012 StandoutScience
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice
2011
Caloric restriction reduces fiber loss and mitochondrial abnormalities in aged rat muscle
1997
E-Syts, a family of membranous Ca 2+ -sensor proteins with multiple C 2 domains
2007 StandoutNobel
Mouse Models to Disentangle the Hallmarks of Human Aging
2018
Lethal mitochondrial cardiomyopathy in a hypomorphic Med30 mouse mutant is ameliorated by ketogenic diet
2011 StandoutNobel
Extending Healthy Life Span—From Yeast to Humans
2010 StandoutScience
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
Inherited Mitochondrial Diseases of DNA Replication
2007
Works of A. Prelle being referenced
Absence of angiogenic genes modification in Italian ALS patients
2006
Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level
1994
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
2009
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
2005 Nature
Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease
1998
Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency
2003
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
1995
TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations
2009
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study
1995
Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity
2001
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy
1995
Cognitive impairment in Duchenne muscular dystrophy
1994
New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion
2006
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
1994
Increased longevity and refractoriness to Ca2+-dependent neurodegeneration in Surf1 knockout mice
2007
A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
2005
Progressive cytochrome c oxidase deficiency in a case of earns‐sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues
1987
Immunocytochemical study of nebulin in Duchenne muscular dystrophy
1988
Critically ill patients: immunological evidence of inflammation in muscle biopsy.
1999
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome
1998
Application of nile blue and nile red, two fluorescent probes, for detection of lipid droplets in human skeletal muscle.
1987
Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity
1986