research Tardily accelerated neurologic deterioration in two-step thallium intoxication
Thallium poisoning can cause worsening nerve damage and vision loss without typical symptoms.
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240-270 / 1000+ resultsresearch NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research IDENTIFICATION OF RELAY CELLS AND INTERNEURONS IN THE CUNEATE NUCLEUS
The cuneate nucleus has two main neuron types: relay neurons and interneurons.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Pluripotent Hair Follicle Neural Crest Stem-Cell-Derived Neurons and Schwann Cells Functionally Repair Sciatic Nerves in Rats
research Non-motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-motor Systems
Myasthenia gravis can affect both motor and non-motor systems due to immune system issues.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research A simple immunofluorescence technique for simultaneous visualization of mast cells and nerve fibers reveals selectivity and hair cycle - dependent changes in mast cell - nerve fiber contacts in murine skin
Mast cell and nerve fiber interactions in mouse skin change with the hair cycle.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research Overnight loss of pigmented hair in autoimmune autonomic neuropathy treated with IVIg
IVIg treatment improved symptoms but caused permanent dark hair loss.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Overexpression of neurotrophin 4 in skin enhances myelinated sensory endings but does not influence sensory neuron number
Increasing neurotrophin 4 in skin boosts nerve endings but not sensory neuron count.
research No mucosal involvement in a patient with paraneoplastic pemphigus associated with thymoma and myasthenia gravis
The patient had paraneoplastic pemphigus without mucosal involvement.
research Complex Regional Pain Syndrome I (Reflex Sympathetic Dystrophy)
CRPS type I is a complex pain condition with no proven cure, requiring personalized treatment.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research Lysophosphatidic acid and signaling in sensory neurons
Lysophosphatidic acid affects sensory neurons and may cause neuropathic pain and itch.
research An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa
A rare genetic condition can mimic symptoms of other diseases, making diagnosis challenging.
research Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case*
A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
A clinical nutrition program improved sensory and motor function in a 60-year-old with anti-MAG neuropathy.
research Skin disorders in Parkinson’s disease: potential biomarkers and risk factors
Certain skin conditions may indicate or increase the risk of Parkinson's disease.
research LB1601 Dermatomyositis-related panniculitis of the neck
A woman with dermatomyositis improved after treatment for neck panniculitis, suggesting similar treatment for related conditions.
research Poster 252 Patient Registry of Outcomes in Spasticity Care
The data suggests that dosing differences can help manage spasticity in patients with upper motor neuron dysfunction.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Combined drug triads for synergic neuroprotection in retinal degeneration
Using three different drugs together may better treat eye diseases like glaucoma and macular degeneration.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.