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Journal of Neuromuscular Diseases|February 20, 2025
MICU1 related myopathy - a rare report from IndiaDipti Baskar, Suma Reddy Ganji, Aneesha Thomas, 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.Neurology India|March 5, 2024
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large CohortTanushree Chawla, Nishanth Reddy, Rahul Jankar, et al.Journal of Human Genetics|March 13, 2021
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndromeMainak Bardhan, Kiran Polavarapu, Nandeesh N Bevinahalli, et al.Annals of Indian Academy of Neurology|April 1, 2022
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic ParaplegiaHansashree Padmanabha, Rohan Mahale, Rita Christopher, et al.European Journal of Neurology|October 30, 2020
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutationsShamita Sanga, Arnab Ghosh, Krishna Kumar, et al.Internal Medicine Journal|August 14, 2023
Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohortDipti Baskar, Preethish Veeramani-Kumar, Kiran Polavarapu, et al.Pageof 14