Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

Routine Fundoscopy Uncovering Wolfram Syndrome in a Diabetic Patient: A Case Report.

Genomic Insights into Unspecified Monogenic Forms of Diabetes and Their Associated Comorbidities: Implication for Treatment.

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report.

Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.

Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

The Neuroradiologic Spectrum of Wolfram Syndrome.

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report.

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal.

CISD2 ensures adequate ER-mitochondrial coupling, critically supporting mitochondrial function in neurons.

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Wolfram syndrome: A perspective on gene editing as a therapeutic strategy.

Neutropenia Through Enhanced Neutrophil Apoptosis and Secondary Necrosis in Wolfram Syndrome 1.

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

Transitioning adolescents with rare forms of diabetes to adult care: challenges and perspectives.

Diabetes Insipidus as an Early Clinical Indicator of Wolfram Syndrome Type 1: Evidence From a Symptom-Based Screening Approach.

Wolfram-like Syndrome: Shedding Light on a Variant of Wolfram Syndrome.

Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy.

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder.

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects.

Clinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.

Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective.

Diabetes and optic atrophy in a young adult: consider Wolfram syndrome.

WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report.

Localization and connections of the tail of caudate and caudal putamen in mouse brain.

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.

WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A.

Long-term follow-up of pancreatic islet transplantation in a patient with Wolfram syndrome: a case report.

Gonadal Dysfunction in Wolfram Syndrome: A Prospective Study.

Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees.

The Labile Side of Iron in Health and Disease: A Narrative Review.

Brainstem and optic pathway involvement in wolfram syndrome.

The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin-dependent diabetes mellitus: lessons from novel WFS1 variants.

A case of a young patient with progressive vision loss: An atypical presentation of the rare Wolfram Syndrome in a Middle Eastern individual.

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome.

Profile of monogenic diabetes: a Pan-India study.

Proteomic profiling of pseudorabies virus-infected PK-15 cells based on 4D label free analysis.

Clinical trials for Wolfram syndrome neurodegeneration: Novel design, endpoints, and analysis models.

Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity.

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.

Liraglutide Treatment Reverses Unconventional Cellular Defects in Induced Pluripotent Stem Cell-Derived β-Cells Harboring a Partially Functional WFS1 Variant.

Wolfram syndrome 2 gene (CISD2) deficiency disrupts Ca2+-mediated insulin secretion in β-cells.

Reciprocal rescue of Wolfram syndrome by two causative genes.

Nuclear factor erythroid 2-related factor improves depression and cognitive dysfunction in rats with ischemic stroke by mediating wolfram syndrome 1.

Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy.

GABA and GLP-1 receptor agonist combination therapy modifies diabetes and Langerhans islet cytoarchitecture in a rat model of Wolfram syndrome.

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial.

β cell dedifferentiation, the underlying mechanism of diabetes in Wolfram syndrome.

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity?

The Heterozygous p.A684V Variant in the WFS1 Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

A Rare Case of Wolfram Syndrome Presenting With Tuberculous Meningitis: A Case Report.

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

Cochlear implant in Wolfram syndrome: A case report.

Foecal incontinence disorders in Wolfram syndrome: a new manifestation.

Dual role of neuroplastin in pancreatic β cells: Regulating insulin secretion and promoting islet inflammation.

Early trigeminal and sensory impairment and lysosomal dysfunction in accurate models of Wolfram syndrome.

Novel Presentation of Type 1 Wolfram Syndrome as Intracranial Hemorrhage and Longitudinally Extensive Transverse Myelitis: Neuroimaging and Angiographic Findings.

A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.

Beyond Wolfram Syndrome 1: The WFS1 Gene's Role in Alzheimer's Disease and Sleep Disorders.

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.

Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.

Tale of mitochondria and mitochondria-associated ER membrane in patient-derived neuronal models of Wolfram syndrome.

A novel (-)-(2S)-7,4'-dihydroxyflavanone compound for treating age-related diabetes mellitus through immunoinformatics-guided activation of CISD3.

Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss - a case series.

Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center.

OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION.

CISD2 counteracts the inhibition of ER-mitochondrial calcium transfer by anti-apoptotic BCL-2.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Early presentation of urological abnormalities in a case of Wolfram syndrome.

Images in sleep medicine sleep-disordered breathing in Wolfram's syndrome - A near-fatal event.

Endoplasmic reticulum-mitochondria lockdown in Wolfram syndrome.

Novel WFS1 variants are associated with different diabetes phenotypes.

Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.

A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome.

Immunoinformatic-based drug design utilizing hesperetin to target CISD2 activation for liver aging in humans.

Beyond Vision and Hearing: A Case Report of Wolfram Syndrome.

Continuous glycemic monitoring in managing diabetes in adult patients with wolfram syndrome.

Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.

ER calcium depletion as a key driver for impaired ER-to-mitochondria calcium transfer and mitochondrial dysfunction in Wolfram syndrome.

Identification of unique cell type responses in pancreatic islets to stress.

Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1.

Optic Nerve T2 Signal Intensity and Caliber Reflect Clinical Severity in Genetic Optic Atrophy.

An adolescent male with persistent urinary symptoms.

Multimodal imaging in autosomal dominant Wolfram syndrome and long-term follow-up of laminations of the outer plexiform layer.

Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.

The Wolfram-like variant WFS1E864K destabilizes MAM and compromises autophagy and mitophagy in human and mice.

Astrocyte-mediated regulation of BLAWFS1 neurons alleviates risk-assessment deficits in DISC1-N mice.

Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA.

Cardiac Wolframinopathies: A Case Report of Myocarditis and a Literature Review of Cardiac Involvement in Wolfram Syndrome 1.

A Wolfram-like syndrome family: Case report.

Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities.

An adolescent with Wolfram syndrome and central sleep apnea.

Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments.

ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models.

[Wolfram-like syndrome: a case report].

Neuroimaging features in Wolfram syndrome type 1.

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management.

Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.

Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties.

Wolfram syndrome type 1: a case series.

High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness.

Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome.

The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.

Dopamine D2 receptors in WFS1-neurons regulate food-seeking and avoidance behaviors.

Genomics of Wolfram Syndrome 1 (WFS1).

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report.

Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.

Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?

There's More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient.

Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump.

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review.

Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.

Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.

Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.

Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production.

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder.

Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior.

Targeting Ca2+-dependent pathways to promote corneal epithelial wound healing induced by CISD2 deficiency.

Peculiar Outer Plexiform Layer in Autosomal Dominant Wolfram Syndrome.

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.

Clinical management and obstetric outcome in WFS1 Wolfram syndrome spectrum disorder: A case report and literature review.

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.

Chronic Stress Alters Hippocampal Renin-Angiotensin-Aldosterone System Component Expression in an Aged Rat Model of Wolfram Syndrome.

Rescue of Long-Term Spatial Memory by 7,8-Dihydroxyflavone in Mice with Reduced Oligodendrogenesis.

GLP1 receptor agonists for Wolfram syndrome?

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.

Wfs1 loss-of-function disrupts the composition of mouse pancreatic endocrine cells from birth and impairs Glut2 localization to cytomembrane in pancreatic β cells.

GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models.

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome.

Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant.

Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke.

Enhancement of taste by retronasal odors in patients with Wolfram syndrome and decreased olfactory function.

[Advances in diagnosis and treatment of Wolfram syndrome and related molecular mechanism].

A novel WFS1 variant associated with isolated congenital cataracts.

Coupling of autophagy and the mitochondrial intrinsic apoptosis pathway modulates proteostasis and ageing in Caenorhabditis elegans.

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.

Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule.

β-cyclodextrin based nano gene delivery using pharmaceutical applications to treat Wolfram syndrome.

Endoplasmic reticulum stress inhibition ameliorated WFS1 expression alterations and reduced pancreatic islets' insulin secretion induced by high-fat diet in rats.

Psychiatric Diagnoses and Medications in Wolfram Syndrome.

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice.

A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options.

Predictions of the Poses and Affinity of a Ligand over the Entire Surface of a NEET Protein: The Case of Human MitoNEET.

The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome.

A 75-Year-Old Woman with a 5-Year History of Controlled Type 2 Diabetes Mellitus Presenting with Polydipsia and Polyuria and a Diagnosis of Central Diabetes Insipidus.

New unexpected role for Wolfram Syndrome protein WFS1: a novel therapeutic target for Alzheimer's disease?

Wolfram syndrome 1b mutation suppresses Mauthner-cell axon regeneration via ER stress signal pathway.

Rejuvenation: Turning Back Time by Enhancing CISD2.

NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome.

[Two cases of Wolfram syndrome].

Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.

Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report.

Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Oxidative and endoplasmic reticulum stress develop adverse metabolic effects due to the high-fat high-fructose diet consumption from birth to young adulthood.

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report.

Petrified heart in a patient with Wolfram Syndrome.

Longitudinal Changes in Vision and Retinal Morphology in Wolfram Syndrome.

[Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene].

Wolfram syndrome with a rare genetic mutation - Case report.

Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.

Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer's Disease and Wolfram Syndrome.

Two Cases of Wolfram Syndrome Who Were Initially Diagnosed With Type 1 Diabetes.

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.

Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature.

The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells.

Boosting ER-mitochondria calcium transfer to treat Wolfram syndrome.

Wolfram Syndrome 1: From Genetics to Therapy.

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.

[Genetic protocol in primary care for rare diseases: Wolfram syndrome as a prototype].

Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles.

Metabolic Treatment of Wolfram Syndrome.

Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene.

Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.

Recurrent Urinary Tract Infection in Young Diabetics: Reason to Look Beyond the Pancreas!

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus.

Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models.

Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study.

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene.