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Journal of Clinical Neurology (Seoul, Korea)|June 29, 2021
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature ReviewKiran Polavarapu, Mainak Bardhan, Ram Murthy Anjanappa, et al.
Journal of Proteomics|October 27, 2019
Human muscle pathology is associated with altered phosphoprotein profile of mitochondrial proteins in the skeletal muscleB Sunitha, Manish Kumar, Niya Gowthami, et al.
Annals of Indian Academy of Neurology|March 28, 2022
Mutation Spectrum of Primary Lipid Storage MyopathiesSeena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Journal of Neuromuscular Diseases|February 20, 2025
MICU1 related myopathy - a rare report from IndiaDipti Baskar, Suma Reddy Ganji, Aneesha Thomas, et al.
Journal of Neuromuscular Diseases|February 20, 2025
A rare case of myopathy with fatigability due to PYROXD1 variationDipti Baskar, Aneesha Thomas, Vijay Kumar Boddu, et al.
Journal of Clinical Medicine|December 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case ReportOzge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel, et al.
Neurology. Genetics|January 17, 2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense VariantDipti Baskar, Kiran Polavarapu, Veeramani Preethish-Kumar, et al.
Journal of Neuromuscular Diseases|March 4, 2025
Titinopathies: Phenotype - genotype heterogeneity in an Indian cohortDipti Baskar, Seena Vengalil, Kiran Polavarapu, et al.
Journal of Clinical Ultrasound : JCU|October 15, 2021
Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosisRahul Reddy Rajula, Jitender Saini, Gopikrishnan Unnikrishnan, et al.
Global Medical Genetics|September 6, 2024
Phenotypic Heterogeneity in ORAI-1-Associated Congenital MyopathyDipti Baskar, Seena Vengalil, Kiran Polavarapu, et al.
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