Cataract Ataxia Deafness Latest Advances

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: October 03, 2022

Cataract Ataxia Deafness Latest Advances

Find the Latest Research About Cataract Ataxia Deafness

Parallel in-register contact propensity predicts the Amyloidogenicity of ADan and ABri in familial dementias.

Parallel in-register contact propensity predicts the Amyloidogenicity of ADan and ABri in familial dementias.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Pathological mechanisms of motor dysfunction in familial Danish dementia: insights from a knock-in rat model.

Pathological mechanisms of motor dysfunction in familial Danish dementia: insights from a knock-in rat model.

Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.

Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.

Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.

Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.

PHARC syndrome: an overview.

PHARC syndrome: an overview.

Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.

Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.

A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype.

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants.

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.

Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.