Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Znhit3 regulates p53/p21 signaling and governs cerebellar granule cell development.

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre.

Intensive lipid-lowering therapy-related regression of a vulnerable plaque confirmed by serial optical coherence tomography: a case report.

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

From the Optic Neuritis Treatment Trial to Antibody-Mediated Optic Neuritis: Four Decades of Progress and Unanswered Questions.

Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome.

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

Pain in multiple sclerosis: clinical phenotypes and therapeutic strategies - a narrative review.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

Spindle density relates to cognitive outcomes in infantile epileptic spasms syndrome with unknown etiology: A retrospective cohort study.

Prevalence and Patterns of Cranial Nerve Involvement in CIDP, Autoimmune Nodopathy, MMN, and Anti-MAG Neuropathy: A Multicenter Korea/UK Study of 582 Patients.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

First demyelinating attack in children: A twelve year single center cohort.

Pediatric neuromyelitis optica spectrum disorders in Dakar: Insights from a preliminary multicentric case series in Senegal.

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Immunotherapies for neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein antibody-associated disease.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Precision in Complexity: A Protocol-Driven Quantitative Anatomic Strategy for Giant Olfactory Groove Meningioma Resection in a High-Risk Geriatric Patient.

Outcomes of Children With Optic Neuritis as Their First Demyelinating Event.

The Baraitser-Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β-Actin Impairs Its Cellular Polymerization and Stability.

Quantitative assessment of light discomfort thresholds in a patient with photoallodynia treated with topical naltrexone 0.01.

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD): Mechanisms, Syndromes, and Management.

A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.

Wearable eye-tracking of visuomotor strategies in table tennis players of diverse expertise and cognitive function in a naturalistic environment.

Fluoroquinolone-Associated Psychiatric and Ocular Adverse Events: A Disproportionality Analysis Using Real-World Data From FAERS (2011-2024).

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Influence of gestational history on neural tube defects and Eisenmenger syndrome: associations with intellectual disability and visual impairment in children and adults - a systematic review.

Anesthetic Management of a Patient With Myhre Syndrome.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Disease-Modifying Treatment Options in Very Early Onset Multiple Sclerosis-What Choices Are There for Onset Under 5 Years of Age? A Systematic Review.

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

Macular and optic nerve hypoplasia in chromosome 2p partial trisomy.

Atypical Inter-Brain Synchrony and Social Communication Deficits in Girls with Fragile X Syndrome: Evidence from Functional Near-infrared Spectroscopy Hyperscanning.

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics.

WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.

Diagnostic odyssey of opsoclonus-myoclonus syndrome and barriers to early detection.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Sudden Bilateral Vision Loss in A Young Patient with Systemic Autoimmune Disease and A Normal Brain MRI, which Responded to Steroid Treatment.

Unraveling the relationship between childhood dry eye symptoms and sleep patterns.

A novel frameshift variant in the MED13 gene causing intellectual developmental disorder-61 in a Chinese family.

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

Burden of ophthalmologic disorders in obstructive sleep apnea.

Neuroimaging Findings and Neurocognitive Features of Patients with Ochoa Syndrome (Urofacial Syndrome)-A Prospective Experimental Study.

The burden of bacterial antimicrobial resistance in the WHO Eastern Mediterranean Region 1990-2021: a cross-country systematic analysis with forecasts to 2050.

Outcomes of Maintenance Immunotherapy in a Cohort of Patients With Susac Syndrome: A 2-Center Large Case Series.

Predictors of relapse and disability in NMOSD, MOGAD, and double-seronegative demyelinating syndromes: an international multicenter retrospective cohort study.

Long-term real-world effectiveness and safety of fremanezumab in 1140 patients with migraine and at least 6 months of treatment: third interim analysis of the pan-European PEARL study.

Case 341: Infratentorial Posterior Reversible Encephalopathy Syndrome Associated with Interferon-β in Relapsing Multiple Sclerosis.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Purtscher-like retinopathy following mechanical thrombectomy: A case report.

Development of a Patient-Centered Outcome Tool for Blepharospasm: A Stepwise Modified Delphi Study.

Case Report: A case of traumatic subgaleal hematoma with delayed massive exophthalmos.

Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.

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

Diagnosis of multiple sclerosis: 2024 revisions of the McDonald criteria.

Baló's concentric sclerosis: A retrospective case series.

Safety and Efficacy of Diquafosol Compared to Artificial Tears for the Treatment of Dry Eye: A Systematic Review and Meta-Analysis.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2.

A comparative study on clinico-radiological profile, treatment responses and outcomes of double seronegative NMOSD compared to AQP4-IgG positive NMOSD, and MOGAD.

Low Vision Rehabilitation in a Family Affected by Peters' Anomaly Syndrome.

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome.

Chronic Ocular Sequelae of Stevens-Johnson Syndrome: Recent Advances in Understanding of Patho-Physiology and Management.

Prevalence and Potential Risk Factors of Ocular Disorders Among Institutionalised Adults With Intellectual Disabilities-A City-Wide Survey in Taipei City.

Prediction of apolipoprotein A-I and high-density lipoprotein cholesterol in the neurological impairment and relapse of neuromyelitis optica spectrum disorder.

Korean medicine combination treatment for chronic tinnitus unresponsive to conventional treatment: A case report and review of literature.

Cerebral/Cortical visual impairment (CVI) in Down syndrome: a case series.

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome.

Complex strabismus in a patient with KBG syndrome with 16q24.3 microdeletion.

Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion.

Vestibular Assessment and Compensation in Unilateral Acute Vestibular Dysfunction: A Prospective Single-Armed Cohort Study of Vestibular Schwannoma After Surgery.

Systematic phenotype and genotype characterization of Moebius syndrome.

A Rare Case of Eight-and-a-Half Syndrome Due to a Pontine Ischemic Stroke.

NIR-II Luminescent Nanothermometer for Precise Assessment of Ischemic Stroke.

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

A novel NR2F1-associated microdeletion underlying Bosch-Boonstra-Schaaf optic atrophy syndrome.

Full-Spectrum Medicinal Cannabis Plant Extract 0.08% THC (NTI164) Improves Symptoms of Rett Syndrome: An Open-Label Study.

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

Neuromyelitis Optica Spectrum disorder - Clinical profile, treatment and risk factors for relapse in three tertiary hospitals in South Africa. An observational study.

Foveal hypoplasia in Myhre syndrome: a novel association.

Treating Glaucoma in Intellectually Disabled Patients: Novel Criteria for Choosing Surgical Candidates.

The feasibility of using eye-tracking technology for cognitive screening in Down syndrome with dementia: A cross-sectional case series.

A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Translational insights from EAE models : decoding MOGAD pathogenesis and therapeutic innovation.

Clinical Spectrum of Acquired Demyelinating Syndromes in Children: A Tertiary Hospital Experience.

French guidelines for the diagnosis and management of pure hereditary spastic paraplegia.

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.

Prevalence, Risk Factors, and Intervention of Long-Term Sleep Disturbance After Intensive Care Unit Discharge: A Scoping Review.

Typical presentation of autosomal recessive oculocutaneous albinism in two siblings.

DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.

Report of Consensus Panel 1 from the 12th International Workshop on the management of patients with IgM and Waldenstrom's Macroglobulinemia related neuropathy.

Aphallia in a patient with 9q34 duplication syndrome: a case report.

Cogan's syndrome. A comprehensive review.

Understanding speech and language in KIF1A-associated neurological disorder.

Ocular manifestations in pediatric tumor suppressor gene mutations: a case series and literature review of RB1, NF1, NF2, VHL, and TSC.

Long term follow-up of multiorgan disease in Kleefstra syndrome 2 in an adult - case report.

Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.

Predictors of Recovering Full Consciousness: Results From a Prospective Multisite Italian Study.

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Clinical profile and treatment outcomes in acute retinal necrosis in a South Indian patient population.

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience.

Charles Bonnet syndrome among visually impaired military veterans: findings from a UK screening and survey study.

Novel Compound Heterozygous Variants in ZNF526 Causing Dentici-Novelli Neurodevelopmental Syndrome: A Case Report and Literature Review.

Optic atrophy in Lamb-Shaffer syndrome: two case presentations with ophthalmic imaging studies.

Gaze behavior in infancy associates with developmental outcome at the age of two years in early-onset epilepsies.

Impact of communication modalities on autonomy and social participation of persons with locked-in syndrome.

The Ocular Manifestations of Individuals With Down Syndrome: A Systematic Review and Meta-Analysis.

Case report: ocular manifestations of NFIX-associated Malan syndrome.

Is a Benign Disease Course Possible in Untreated AQP4-IgG NMOSD?

Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.

Ocular Surface Disease Index questionnaire in different languages.

Early White Matter Microstructure Alterations in Infants with Down Syndrome.

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

[Clinical observation on the efficacy of ringheaded thumb-tack needle therapy combined with tuina and active functional exercise in the treatment of neck-type cervical spondylosis].

[Clinical features of CHARGE syndrome in children].

The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report.

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

Malignant Peripheral Nerve Sheath Tumor (MPNST) Arising from Orbital Plexiform Neurofibroma in a Small Child With Neurofibromatosis Type 1.

Facial characteristics description and classification based on 3D images of Fragile X syndrome in a retrospective cohort of young Chinese males.

A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.

A randomized crossover trial: The impact of ocular lubrication on migraine severity in persons with dry eye disease and migraine.

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

A Drosophila model for Costello Syndrome caused by Ras mutation K117R.

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Autoantibody profile (MOG-IgG-positivity, AQP4-IgG-positivity, and double-seronegativity) as an outcome predictor after optic neuritis.

Strabismus in Genetic Syndromes: A Review.

Kidins220-deficient hydrocephalus mice exhibit altered glial phenotypes and AQP4 differential regulation in the retina and optic nerve, with preserved retinal ganglion cell survival.

Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

Eye Tracking as a Tool for Detecting Alzheimer's Disease in People With Down Syndrome.

Poretti-Boltshauser Syndrome: A Report of Two Cases From Bahrain With a Novel Mutation and Literature Review.

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis.

Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.

Effect of Different Treatments on Retinal Thickness Changes in Patients With Multiple Sclerosis: A Review.

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability.

Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.

SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity.

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

The Spectrum of Ocular Diseases in the Onchocerciasis-Endemic Focus of Raga in South Sudan.

Susac's Syndrome: A Tale of Disability Due to Late Recognition.

Short-term γ-aminobutyric acid antagonist treatment improves long-term sleep quality, memory, and decision-making in a Down syndrome mouse model.

Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Posterior Cortical Atrophy Due to Alzheimer Disease in a Person With Down Syndrome: A Case Report.

Brain microstructural damage through serial diffusion tensor imaging and outcomes in Susac syndrome: A prospective cohort study.

Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2.

Assessment of Affordances in the Home Environment and Neurodevelopment of Children With Congenital Zika Syndrome.

Protein-Variant-Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome.

Ocular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.

Cardiovascular autonomic dysfunction and sleep abnormalities in children with Prader-Willi syndrome.

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

New-Onset Multiple Sclerosis in Pregnancy: Diagnostic Approaches and Treatment Dilemmas.

Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy.

Clinical characteristics of patients with P4HTM variant-associated epilepsy and therapeutic exploration: a case report and literature review.

Homonymous hemi-macular atrophy in multiple sclerosis.

[Classic presentation of neuromyelitis optica: clinical case and review of the literature].

The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder.

A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Estimates and trends in the global burden of glaucoma influenced by metabolic risk factors from Global Burden of Disease Study between 1990 to 2019.

HLA-B*51:01 in Iranian patients with Behcet uveitis syndrome.

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

[Viral uveitis in the tropics].

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

Multimodal Assessment of the Origin of Myoclonus in Lance-Adams Syndrome.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Rehabilitation and Physiotherapy Action Strategy for an Acute Case of Lateral Medullary Syndrome: A Case Report.

Association of LONP1 gene with epilepsy and the sub-regional effect.

New insights into the use of high dose corticosteroids and plasmapheresis in persons with MOGAD and NMOSD.

A Clinical Study on Severity of Dry Eye in Individuals with Pterygium at a Tertiary Hospital in South Kerala.

Efcab7 deletion sensitizes mice to the teratogenic effects of gastrulation-stage alcohol exposure.

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

[Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].