Results 61 to 70 of about 7,425 (220)
Atypical parkinsonism: An Update. [PDF]
, 2013 Purpose of review: This update discusses novel aspects on genetics, diagnosis, and treatments of atypical parkinsonism published over the past 2 years. Recent findings: A genome-wide association study identified new genetic risk factors for progressive ...
Hoeglinger, GU, Stamelou, M
core +1 more source
‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy
Movement Disorders, Volume 41, Issue 2, Page 342-350, February 2026.Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras +19 more
wiley +1 more source
A Case Report of Xanthogranulomatous Cystitis
Urology Case Reports, 2017 Xanthogranulomatous cystitis (XC) is a chronic granulomatous inflammation with rare incidence. Herein, we report a 62-year-old female whose cystoscopic biopsy showed chronic inflammation accompanied with acute episode of inflammation.
Chen Pengliang +4 more
doaj +1 more source
Cerebrotendinous xanthomatosis and infertility: A case report
Clinical Case Reports, 2022 Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues.
Narges Karimi +3 more
doaj +1 more source
Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis
Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.Acquired ichthyosis (AI) is a rare dermatological disorder characterized by dry, scaly skin. This case involves a 67‐year‐old Hispanic male with poorly controlled diabetes mellitus (DM) who presented with generalized dryness and itchiness after diabetic ketoacidosis.
Sam Fathizadeh +4 more
wiley +1 more source
Context-dependent compensation among phosphatidylserine-recognition receptors [PDF]
, 2017 Phagocytes express multiple phosphatidylserine (PtdSer) receptors that recognize apoptotic cells. It is unknown whether these receptors are interchangeable or if they play unique roles during cell clearance.
Han, Claudia Z +11 more
core +3 more sources
The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance
Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis +2 more
wiley +1 more source
A preventable ataxia: Cerebrotendinous xanthomatosis
Annals of Indian Academy of Neurology, 2019 Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development ...
Bhagya Shaji +2 more
doaj +1 more source
Frontiers in Pediatrics, 2020 Background: Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid synthesis which causes progressive accumulation of toxic metabolites in various organs, particularly in brain and tendons.
Irene Degrassi +7 more
doaj +1 more source
, 1977 Asymptomatic hyperlipemia occurs in a significant number of American children. It is important to recognize the condition during childhood because of its role as a risk factor in the early onset of coronary artery disease and because early dietary ...
Miller, William W.
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