Kate E. Ahmad

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 31 publications

Reply: Finsterer "Ophthalmoplegia Is Not Uncommon in Carriers of DOK7 Variants".

Reply: Finsterer "Ophthalmoplegia Is Not Uncommon in Carriers of DOK7 Variants".

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: August 20, 2026

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families.

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: June 30, 2026

DOK7 Congenital Myasthenia Syndrome Presenting as an Isolated Complex Ophthalmoplegia.

DOK7 Congenital Myasthenia Syndrome Presenting as an Isolated Complex Ophthalmoplegia.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: April 17, 2026

Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.

Novel heterozygous UCHL1 variant causing severe optic atrophy and vision loss.

Journal: Ophthalmic genetics

Published: April 10, 2026

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Journal: Nature communications

Published: November 17, 2025

Thymolipoma as a Rare Cause of Myasthenia Gravis.

Thymolipoma as a Rare Cause of Myasthenia Gravis.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: September 22, 2025

A diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism.

A diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism.

Journal: BMJ case reports

Published: August 22, 2025

Desmoplastic myxoid tumor of the pineal region presenting with Parinaud syndrome.

Desmoplastic myxoid tumor of the pineal region presenting with Parinaud syndrome.

Journal: Journal of neuropathology and experimental neurology

Published: August 20, 2025

Adult-Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits.

Adult-Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits.

Journal: Annals of clinical and translational neurology

Published: August 18, 2025

Communicating Hope and Fact to Families With Leber Hereditary Optic Neuropathy.

Communicating Hope and Fact to Families With Leber Hereditary Optic Neuropathy.

Journal: Clinical & experimental ophthalmology

Published: February 10, 2025

Neurological manifestations of chronic graft versus host disease.

Neurological manifestations of chronic graft versus host disease.

Journal: Internal medicine journal

Published: February 06, 2025

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Journal: Annals of clinical and translational neurology

Published: December 26, 2024

Showing 1-12 of 31

Last Updated: 09/26/2026