Mitali P. Patel

33 Cleveland Street, W1W 7FF
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 27 publications

Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo.

Intracellular trafficking SNARE protein, syntaxin-6, modifies prion cellular phenotypes and risk of disease development in vivo.

Journal: Acta neuropathologica

Published: August 02, 2025

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Journal: Science (New York, N.Y.)

Published: April 25, 2024

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Combined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia.

Journal: European journal of human genetics : EJHG

Published: December 11, 2023

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.

Journal: Human molecular genetics

Published: June 23, 2023

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Journal: ERJ open research

Published: December 15, 2022

Prion protein conversion at two distinct cellular sites precedes fibrillisation.

Prion protein conversion at two distinct cellular sites precedes fibrillisation.

Journal: Nature communications

Published: May 04, 2022

PCD Detect: enhancing ciliary features through image averaging and classification.

PCD Detect: enhancing ciliary features through image averaging and classification.

Journal: American journal of physiology. Lung cellular and molecular physiology

Published: September 30, 2020

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.

Journal: The European respiratory journal

Published: June 16, 2020

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Journal: Neurology. Genetics

Published: April 11, 2020

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.

Journal: Clinical genetics

Published: August 20, 2019

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Journal: Journal of medical genetics

Published: August 13, 2019

Sperm defects in primary ciliary dyskinesia and related causes of male infertility.

Sperm defects in primary ciliary dyskinesia and related causes of male infertility.

Journal: Cellular and molecular life sciences : CMLS

Published: July 16, 2019

Showing 1-12 of 27

Last Updated: 09/26/2026