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Last Updated: 10/31/2025
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Found 57 publications
PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.
Journal: Cerebellum (London, England)
Published: May 22, 2025
Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 02, 2025
Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.
Journal: A&A practice
Published: November 25, 2024
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Journal: Orphanet journal of rare diseases
Published: May 14, 2024
A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.
Journal: Molecular genetics & genomic medicine
Published: April 05, 2024
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.
Journal: Ophthalmic genetics
Published: January 08, 2024
Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.
Journal: BMC medical genomics
Published: December 18, 2023
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
Published: October 03, 2022
Lack of ApoE inhibits ADan amyloidosis in a mouse model of familial Danish dementia.
Journal: The Journal of biological chemistry
Published: September 02, 2022
A familial Danish dementia rat shows impaired presynaptic and postsynaptic glutamatergic transmission.
Journal: The Journal of biological chemistry
Published: June 24, 2021
Last Updated: 10/31/2025