Kiran Polavarapu
16PUBLICATIONS
196CO-AUTHORS
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Publications (16)
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|Dec 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel
|Dec 26, 2025
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.Thiloka E Ratnaike, M Eren Kule, Ida Paramonov
|Sep 30, 2025
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India.Dipti Baskar, Kiran Polavarapu, Ananthapadmanabha Kotambail
|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|Feb 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.Sivasankar Malaichamy, Romane Idoux, Kiran Polavarapu
|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
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Frequent Collaborators
9 joint publications
Hanns Lochmüller
9 joint publications
Rita Horvath
5 joint publications
Atchayaram Nalini
4 joint publications
Catarina Olimpio
4 joint publications
Volker Straub
4 joint publications
Seena Vengalil
3 joint publications
Kornelia Ellwanger
3 joint publications
German Demidov
3 joint publications
Henry Houlden
3 joint publications
Matthis Synofzik
