Mukhtar Ullah

4PUBLICATIONS
157CO-AUTHORS
Neurology and neuromuscular diseasesGenetic immunology
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Publications (4)

|Apr 27, 2026
Duplication of 4-bp in SACS leads to autosomal recessive spastic ataxia of Charlevoix-Saguenay type in two Pakistani patients.

|Apr 03, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

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Frequent Collaborators

3 joint publications

Carlo Rivolta

2 joint publications

Mathieu Quinodoz

2 joint publications

Giacomo Calzetti

2 joint publications

Karolina Kaminska