Jana Vandrovcova

6PUBLICATIONS
61CO-AUTHORS
NeurogeneticsMedical biotechnology diagnostics (incl. biosensors)Medical biochemistry - proteins and peptides (incl. medical proteomics)Neurology and neuromuscular diseasesMetabolic medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Jun 09, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan Yau, Roisin Sullivan, Emer O'Connor

|Nov 15, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J Record

|Sep 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara

|Jun 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Mehdi Benkirane, Marion Bonhomme, Heba Morsy

|Jan 14, 2024
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Michelle Bisschoff, Izelle Smuts, Marli Dercksen

|Jul 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Lindsay A Wilson, William L Macken, Luke D Perry

Pageof 1

Frequent Collaborators

5 joint publications

Henry Houlden

3 joint publications

Robert D S Pitceathly

2 joint publications

Lindsay A Wilson

2 joint publications

William L Macken