Karthik Muthusamy

14PUBLICATIONS
25CO-AUTHORS
Instrumental methods (excl. immunological and bioassay methods)Medical biochemistry - lipidsAutoimmunityGene mappingDevelopmental genetics (incl. sex determination)
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Publications (14)

|Jul 03, 2026
Acetazolamide-Responsive Exertion-Triggered Episodic Ataxia in DHDDS-Related Congenital Disorder of Glycosylation.

|Jul 01, 2026
Late-onset symmetric cervical and upper thoracic lipomatosis as a presenting manifestation of mitochondrial disorder.

|Jun 26, 2026
MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.

|Apr 23, 2026
Unmasking Compound Heterozygosity in GYG1 Myopathy: Diagnostic Insights From RNA-Seq and Long-Read Genomics.

|Apr 03, 2026
Expanding the Phenotype of TLK2-Related Neurodevelopmental Disorder: Longitudinal Presentation in Two Young Adult Females.

Alina Ivaniuk, Eva Kahn, Brendan Lanpher

|Sep 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Radhika Dhamija, W Oliver Tobin, Pietro Cortelli

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Frequent Collaborators

3 joint publications

Jai Kumar Rajavoor Muniswamy

1 joint publications

Lisa A Schimmenti

1 joint publications

Eva Morava

1 joint publications

Sumita Danda