Aboulfazl Rad

12PUBLICATIONS
142CO-AUTHORS
NeurogeneticsMedical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMedical mycology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (12)

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Jan 09, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window.

Daniel Owrang, Aboulfazl Rad, Masoome Alerasool

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Dec 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism.

Fatima Rahman, Luisa Marsili, Domizia Pasquetti

|Mar 06, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Asuman Koparir, Caroline Lekszas, Kemal Keseroglu

Pageof 2

Frequent Collaborators

7 joint publications

Barbara Vona

5 joint publications

Reza Maroofian

4 joint publications

Gabriela Oprea

4 joint publications

Henry Houlden