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Global Medical Genetics|February 16, 2022
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from IndiaValakunja H Ganaraja, Kiran Polavarapu, Mainak Bardhan, et al.
Brain Pathology (Zurich, Switzerland)|March 3, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathiesMarc Pauper, Heike Kölbel, Iakowos Karakesisoglou, et al.
The American Journal of Tropical Medicine and Hygiene|February 15, 2019
Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based StudyKiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, et al.
Molecular Neurobiology|January 24, 2023
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome FunctionAndreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, et al.
The American Journal of Tropical Medicine and Hygiene|April 15, 2020
Appropriately Selected Nerve in Suspected Leprous Neuropathy Yields High Positive Results for Mycobacterium leprae DNA by Polymerase Chain Reaction MethodSeena Vengalil, Mallika Lavania, Itu Singh, et al.
Neuromuscular Disorders : NMD|April 26, 2024
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defectsKiran Polavarapu, Daniel O'Neil, Rachel Thompson, et al.
Journal of Neuroinflammation|August 9, 2020
Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammationAnu Mary Varghese, Mausam Ghosh, Savita Kumari Bhagat, et al.
Sleep Medicine|January 20, 2021
Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?Doniparthi Venkata Seshagiri, Akshata Huddar, Saraswati Nashi, et al.
European Journal of Neurology|November 8, 2021
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosisEduardo P Estephan, Antonio A Zambon, Rachel Thompson, et al.
Annals of Indian Academy of Neurology|March 18, 2024
Qualitative and Quantitative Electrocardiogram Parameters in a Large Cohort of Children with Duchenne Muscle Dystrophy in Comparison with Age-Matched Healthy Subjects: A Study from South IndiaManu S Girija, Deepak Menon, Kiran Polavarapu, et al.
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