• A case of acute fish gallbladder poisoning with multiple organ dysfunction
• A case of papilledema in Camurati-Engelmann disease treated effectively with prednisolone
• A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family
• A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
• An electrophysiological correlate of sleep in a shark
• An Interesting Case Report on a Myocysticercosis Cyst
• Analysis of clinical prognosis of endoscopic salvage surgery in patients with rT2 recurrent nasopharyngeal carcinoma
• Analysis of the expression and distribution of protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 in the normal adult mouse brain
• Analysis of the expression and distribution of protein O-linked mannose β1,2-<em>N</em>-acetylglucosaminyltransferase 1 in the normal adult mouse brain
• Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant
• Apraxia of Lid Opening
• Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography
• Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics
• Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
• Calciphylaxis, beware the ophthalmic mimic: A case series
• Case report: Birk-Landau-Perez syndrome linked to the <em>SLC30A9</em> gene-identification of additional cases and expansion of the phenotypic spectrum
• Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum
• Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant
• Cellular heterogeneity and stem cells of vascular endothelial cells in blood vessel formation and homeostasis: Insights from single-cell RNA sequencing
• Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
• Clinical and neuroimaging markers of neurodegeneration in first-degree relatives of patients with REM sleep behavior disorder with and without isolated rapid eye movement sleep without atonia: A case-control clinical and dopamine PET study
• Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy
• Coats plus in prematurity
• Comitant strabismus etiology: extraocular muscle integrity and central nervous system involvement-a narrative review
• Cre-loxP System-Based Mouse Model for Investigating Graves' Disease and Associated Orbitopathy
• DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
• Disrupted myelination network in the cingulate cortex of Parkinson's disease
• Encephalic <em>Schistosoma japonicum</em> resembles brainstem neoplasm: Case report and literature review
• Endophthalmitis Following Inadvertent Intraocular Botulinum Toxin A Injection
• Erdheim-Chester disease: look it in the eye. An orbital magnetic resonance imaging study
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• Expanding the Phenotype of B3GALNT2-Related Disorders
• Feasibility of multimodal therapy for rhabdomyosarcoma in a patient with Fukuyama congenital muscular dystrophy
• Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous <em>POMT2</em> Missense Mutations
• Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
• Fibroblast growth factor 19 secretion and function in perinatal development
• Foville Syndrome
• General consensus on multimodal functions and validation analysis of perinatal derivatives for regenerative medicine applications
• Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines
• Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene
• Glutamatergic pedunculopontine tegmental neurons control wakefulness and locomotion via distinct axonal projections
• Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
• Identification of freeze-thaw artifact in fresh and decomposed black rockfish (<em>Sebastes melanops</em>) and steelhead trout (<em>Oncorhynchus mykiss</em>)
• Idiopathic (Genetic) Generalized Epilepsy
• Idiopathic (Genetic) Generalized Epilepsy
• Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
• Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
• Isolated REM Sleep without Atonia Is Not Equivalent to REM Sleep Behavior Disorder in Early-Stage Parkinson's Disease
• Large <em>TRAPPC11</em> gene deletions as a cause of muscular dystrophy and their estimated genesis
• Melatonin as a Chronobiotic/Cytoprotective Agent in REM Sleep Behavior Disorder
• Millard-Gubler Syndrome due to Parenchymal Neuro-Behcet's Syndrome Lesion: a Rare Case Report
• Missense mutation (C667F) in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
• Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
• Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies
• Modulating mitochondrial calcium channels (TRPM2/MCU/NCX) as a therapeutic strategy for neurodegenerative disorders
• Molecular Cloning and Expression Responses of <em>Jarid2b</em> to High-Temperature Treatment in Nile Tilapia (<em>Oreochromis niloticus</em>)
• Myo/Nog Cells Give Rise to Myofibroblasts During Epiretinal Membrane Formation in a Mouse Model of Proliferative Vitreoretinopathy
• Myo/Nog Cells: The Jekylls and Hydes of the Lens
• Neuroaxonal and cellular damage/protection by prostanoid receptor ligands, fatty acid derivatives and associated enzyme inhibitors
• Non-REM sleep with hypertonia in Parkinsonian Spectrum Disorders: A pilot investigation
• Ocular Myasthenia Gravis: A Current Overview
• Ocular presentation of Walker-Warburg syndrome with <em>POM2</em> mutation
• Ocular presentation of Walker-Warburg syndrome with POM2 mutation
• Optic nerve compression associated with visual cortex functional alteration in dysthyroid optic neuropathy: A combined orbital and brain imaging study
• Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report
• PET imaging for a very early detection of rapid eye movement sleep behaviour disorder and Parkinson's disease - A model-based cost-effectiveness analysis
• Prenatal diagnosis for a fetus with Walker-Warburg syndrome
• Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene
• Prenatal diagnosis of Walker-Warburg syndrome: ultrasound, magnetic resonance imaging and three-dimensional reconstructions
• Propofol improves sleep deprivation-induced sleep structural and cognitive deficits via upregulating the BMAL1 expression and suppressing microglial M1 polarization
• PTB: Not just a polypyrimidine tract-binding protein
• Quantification of smooth muscle in human airways by polarization-sensitive optical coherence tomography requires correction for perichondrium
• Rapid eye movement sleep behavior disorder and its relation to Parkinson's disease: The potential of graph measures as brain biomarkers to identify the underlying physiopathology of the disorder
• Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
• Recurrent cryptogenic strokes in a young female as a novel presentation of Parry Romberg syndrome: a case report and review
• REM behavior disorder: When Parkinson's disease meets Morpheus
• REM sleep and muscle atonia in brainstem stroke: A quantitative polysomnographic and lesion analysis study
• Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes
• RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS
• Sex differences and risk factors for bleeding in Alagille syndrome
• Short-Term Motor Outcomes in Parkinson's Disease after Subthalamic Nucleus Deep Brain Stimulation Combined with Post-Operative Rehabilitation: A Pre-Post Comparison Study
• Signaling through the dystrophin glycoprotein complex affects the stress-dependent transcriptome in Drosophila
• Simple Partial Seizure
• Statin Overuse in Cerebral Ischemia Without Indications: Systematic Review and Annual US Burden of Adverse Events
• Surgery for longer duration supranuclear ophthalmoplegia secondary to brain stem cavernoma: A case report and literature review
• Surgical Management of Iris Bombe in Muscle-Eye-Brain Disease
• Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis
• TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
• The Cell Autonomous and Non-Cell Autonomous Aspects of Neuronal Vulnerability and Resilience in Amyotrophic Lateral Sclerosis
• The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
• The missense mutation C667F in murine beta-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
• Thyroid peroxidase antibodies may induce demyelination and oculomotor neuromyotonia in the absence of thyroid eye disease
• Tonic REM sleep muscle activity is the strongest predictor of phenoconversion risk to neurodegenerative disease in isolated REM sleep behaviour disorder
• Treatment of Pantothenate-Kinase Neurodegeneration With Baclofen, Botulinum Toxin, and Deferiprone: A Case Report
• Type 1 neurodegeneration with brain iron accumulation: a case report
• Uniparental disomy for chromosome 1 with <em>POMGNT1</em> splice-site variant causes muscle-eye-brain disease
• Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
• Unraveling Links between Chronic Inflammation and Long COVID: Workshop Report
• White matter microstructure in Parkinson's disease with and without elevated rapid eye movement sleep muscle tone
• Wolfram syndrome: new pathophysiological insights and therapeutic strategies