• -Using the <em>C. elegans lem-2</em> Gene to Reconstruct the Human LEMD2 Mutation Associated with Hutterite-type Cataract/Cardiomyopathy
• A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome
• A change of heart: Transformation of the electrocardiogram in a patient with apical hypertrophic cardiomyopathy
• A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
• A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy
• A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
• A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family
• A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract
• A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation
• A Saudi Infant with Vici Syndrome: Case Report and Literature Review
• Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria
• Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis
• Advances in Sengers syndrome
• AGK regulates the progression to NASH by affecting mitochondria complex I function
• Association of African-American ethnicity and smoking status with total and individual damage index in systemic lupus erythematosus
• Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing
• Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency
• Autopsy findings in EPG5-related Vici syndrome with antenatal onset
• Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
• Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
• Camptocormia and Other Orthopedic Compromise Dominating Mitochondrial Disorder: A Case Report
• Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies
• Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in <em>AGK</em> Gene
• Cell biological roles of αB-crystallin
• Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies
• Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome
• Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
• Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy
• Comparison of Remission and Lupus Low Disease Activity State in Damage Prevention in a United States Systemic Lupus Erythematosus Cohort
• Congenital Cataracts, Facial Dysmorphism, and Neuropathy Syndrome: Additional Clinical Features
• Correlation of neuter status and expression of heritable disorders
• COXPD9 in an individual from Puerto Rico and literature review
• De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy
• Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
• Effect of polysaccharide from Bacillus subtilis sp. on cardiovascular diseases and atherogenic indices in diabetic rats
• Effects of Ginkgo biloba on Diseases Related to Oxidative Stress
• Endocrinopathy and Aging in Ferrets
• EPG5 c.1007A &gt; G mutation in a sibling pair with rapidly progressing Vici syndrome
• EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome
• EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
• Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction
• Fatal perinatal mitochondrial cardiac failure caused by recurrent <em>de novo</em> duplications in the <em>ATAD3</em> locus
• Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
• Galactose Epimerase Deficiency: Expanding the Phenotype
• Hypocalcaemic cardiomyopathy: a description of two cases and a literature review
• Hypocalcemic cardiomyopathy: a rare presenting manifestation of hypoparathyroidism
• Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene
• Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids
• Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases
• Interplay between Nrf2 and αB-crystallin in the lens and heart of zebrafish under proteostatic stress
• ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
• Lady in red: A case of Kearns-Sayre syndrome supported by histopathology
• Left Main Coronary Artery Atresia in an Infant With Inclusion-Cell Disease
• Long term follow-up in two siblings with Sengers syndrome: Case report
• Loss of αB-crystallin function in zebrafish reveals critical roles in the development of the lens and stress resistance of the heart
• Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype
• MALAT1 as a Diagnostic and Therapeutic Target in Diabetes-Related Complications: A Promising Long-Noncoding RNA
• Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations
• Multi-system neurological disorder associated with a CRYAB variant
• Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature
• Muscular Dystrophy
• Mutation in the AGK gene in two siblings with unusual Sengers syndrome
• Novel <em>EPG5</em> Mutation Associated with Vici Syndrome Gene
• Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities
• Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome
• Novel Intragenic <em>PAX6</em> Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
• Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
• Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
• Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant
• Phenotypic spectrum of <em>SLC25A4</em> mutations
• Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
• Protein moonlighting in inborn errors of metabolism: the case of the mitochondrial acylglycerol kinase
• Recent advances in curcumin-based nanoformulations in diabetes
• Regulation of Oxidative Stress by Long Non-Coding RNAs in Vascular Complications of Diabetes
• Report of an Indian Family with Sengers Syndrome
• Reversible congestive heart failure associated with hypocalcemia: A case report
• Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases
• Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex
• Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report
• Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
• Severe respiratory depression and bradycardia before induction of anesthesia and onset of Takotsubo cardiomyopathy after cardiopulmonary resuscitation
• Severe reversible hypocalcemic cardiomyopathy diagnosed 36 years after subtotal thyroidectomy - a case report
• Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a <em>TCF4</em> Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
• Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import
• Structural and functional studies of D109A human alphaB-crystallin contributing to the development of cataract and cardiomyopathy diseases
• Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases
• The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5
• The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility
• The Parkinsonism-associated protein DJ-1/Park7 prevents glycation damage in human keratinocyte
• The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism
• TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain
• Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
• Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
• Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin
• Vici syndrome in Israel: Clinical and molecular insights
• Vici Syndrome with a Novel Mutation in EPG5
• Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review
• Vici syndrome: a review
• Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy
• Wolff-Parkinson-White syndrome in congenital rubella syndrome