• A Brief History of Mitochondrial Pathologies
• A myopathy with unusual features caused by PNPLA2 gene mutations
• A new muscle glycogen storage disease associated with glycogenin-1 deficiency
• A novel mouse model that recapitulates adult-onset glycogenosis type 4
• A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy
• Administration of a Multi-Strain Probiotic Product to Women in the Perinatal Period Differentially Affects the Breast Milk Cytokine Profile and May Have Beneficial Effects on Neonatal Gastrointestinal Functional Symptoms. A Randomized Clinical Trial
• Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration
• Alpha B-Crystallin in Muscle Disease Prevention: The Role of Physical Activity
• Alpha B-crystallin induction in skeletal muscle cells under redox imbalance is mediated by a JNK-dependent regulatory mechanism
• AlphaB-crystallin and breast cancer: role and possible therapeutic strategies
• An intelligent non-invasive system for automated diagnosis of anemia exploiting a novel dataset
• Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias
• Association of Prenatal Ultrasonography and Autism Spectrum Disorder
• Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy
• Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
• Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation
• Branching enzyme deficiency: expanding the clinical spectrum
• Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3
• Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers
• Cisternal cerebrospinal fluid analysis in 24 sheep with chronic coenurosis
• Creation of a S1P Lyase bacterial surrogate for structure-based drug design
• Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation
• Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
• Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
• Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
• Discovery and Optimization of Potent, Selective, and Brain-Penetrant 1-Heteroaryl-1<em>H</em>-Indazole LRRK2 Kinase Inhibitors for the Treatment of Parkinson's Disease
• Dysbiosis and Prematurity: Is There a Role for Probiotics?
• Effectiveness and Safety of a Probiotic-Mixture for the Treatment of Infantile Colic: A Double-Blind, Randomized, Placebo-Controlled Clinical Trial with Fecal Real-Time PCR and NMR-Based Metabolomics Analysis
• ENABLE 2017, the First EUROPEAN PhD and Post-Doc Symposium. Session 4: From Discovery to Cure: The Future of Therapeutics
• Estrogen-Receptor-Positive Breast Cancer in Postmenopausal Women: The Role of Body Composition and Physical Exercise
• Exercise-mediated downregulation of MALAT1 expression and implications in primary and secondary cancer prevention
• FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia
• Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency
• Functional tricuspid regurgitation: an underestimated issue
• GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
• Genital allergic contact dermatitis in response to contact to thyme in a sanitary pad
• Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy
• Human mitochondrial DNA: roles of inherited and somatic mutations
• Identification of peptides in human Hsp20 and Hsp27 that possess molecular chaperone and anti-apoptotic activities
• Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)
• Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy
• In vitro effects of Beta-2 agonists on skeletal muscle differentiation, hypertrophy, and atrophy
• Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation
• Integrative network-based approaches identified systems-level molecular signatures associated with gallbladder cancer pathogenesis from gallstone diseases
• Is BRCA mutational status a predictor of platinum-based chemotherapy related hematologic toxicity in high-grade serous ovarian cancer patients?
• Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
• Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing
• Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency
• Long survival in patients with leigh syndrome and the m.10191T&gt;C mutation in MT-ND3 : a case report and review of the literature
• Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation
• Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
• Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4
• Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism
• Management of STEC Gastroenteritis: Is There a Role for Probiotics?
• Metabolic Myoglobinuria
• Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
• MiR-23-TrxR1 as a novel molecular axis in skeletal muscle differentiation
• Mitochondrial diseases
• Mitochondrial diseases in North America: An analysis of the NAMDC Registry
• Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging
• Mitochondrial encephalomyopathy due to a novel mutation in ACAD9
• MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions
• MR evaluation of encephalic leukoaraiosis in sudden sensorineural hearing loss (SSNHL) patients
• New insights in the field of muscle glycogenoses
• Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
• Onychomadesis secondary to allergic contact dermatitis to tioconazole contained in a nail lacquer: Description of three cases
• Optimization of brain-penetrant picolinamide derived leucine-rich repeat kinase 2 (LRRK2) inhibitors
• Patients' experiences of self-identification, seeking support, and anticipation of potential relapse in multiple sclerosis
• Phosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-M
• Physical activity in the prevention of human diseases: role of epigenetic modifications
• Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1
• Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase
• Polyphenolic Fraction from Olive Mill Wastewater: Scale-Up and in Vitro Studies for Ophthalmic Nutraceutical Applications
• Progress in the discovery of small molecule modulators of the Cys-loop superfamily receptors
• Prolactin is Expressed in Uterine Leiomyomas and Promotes Signaling and Fibrosis in Myometrial Cells
• Rationale of Probiotic Supplementation during Pregnancy and Neonatal Period
• Resistance training and redox homeostasis: Correlation with age-associated genomic changes
• Retrospective natural history of thymidine kinase 2 deficiency
• Role of exercise-induced reactive oxygen species in the modulation of heat shock protein response
• Sex Differences in antiaging response to short- and long-term high-intensity interval exercise in rat cardiac muscle: Telomerase activity, total antioxidant/oxidant status
• Sildenafil Counteracts the In Vitro Activation of CXCL-9, CXCL-10 and CXCL-11/CXCR3 Axis Induced by Reactive Oxygen Species in Scleroderma Fibroblasts
• Sildenafil Reduces Expression and Release of IL-6 and IL-8 Induced by Reactive Oxygen Species in Systemic Sclerosis Fibroblasts
• Solid Food Introduction and the Development of Food Allergies
• Steady-state redox status in circulating extracellular vesicles: A proof-of-principle study on the role of fitness level and short-term aerobic training in healthy young males
• Structure-Guided Discovery of Aminoquinazolines as Brain-Penetrant and Selective LRRK2 Inhibitors
• Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X
• Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
• Targeting the Metabolic Enzyme PGAM2 Overcomes Enzalutamide Resistance in Castration-Resistant Prostate Cancer by Inhibiting BCL2 Signaling
• Telomere length is independently associated with age, oxidative biomarkers, and sport training in skeletal muscle of healthy adult males
• The Beneficial Role of Physical Exercise on Anthracyclines Induced Cardiotoxicity in Breast Cancer Patients
• The clinical maze of mitochondrial neurology
• The North American mitochondrial disease registry
• The Phosphodiesterase Type 5 Inhibitor Sildenafil Improves DNA Stability and Redox Homeostasis in Systemic Sclerosis Fibroblasts Exposed to Reactive Oxygen Species
• The Preventive Role of Physical Activity in Systemic Sclerosis: A Cross-Sectional Study on the Correlation with Clinical Parameters and Disease Progression
• The role of αB-crystallin in skeletal and cardiac muscle tissues
• Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
• TK2 mutation presenting as indolent myopathy
• What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
• Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion
• Whole-exome sequencing detects <em>PYGM</em> variants in two adults with McArdle disease