Jain Foundation

Recent papers from Jain Foundation

1. Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Journal of Neurology · 2026
2. Enhancing the Performance of a Blood‐Based Diagnostic Screening Tool for Dysferlinopathy: Optimising an Immunoassay Across ContinentsNeuropathology and Applied Neurobiology · 2026
3. High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.2025
4. Modeling of Dysferlinopathy (LGMDR2) ProgressionNeurology Genetics · 2025
5. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyAnnals of Clinical and Translational Neurology · 2024
6. Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophyNeuromuscular Disorders · 2024
7. Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy2024
8. Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in DysferlinopathyJournal of Personalized Medicine · 2023
9. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI patternNeuromuscular Disorders · 2023
10. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathyNeuromuscular Disorders · 2023
11. Patient reported pregnancy and birth outcomes in genetic neuromuscular diseasesNeuromuscular Disorders · 2022
12. Water T2 could predict functional decline in patients with dysferlinopathyJournal of Cachexia Sarcopenia and Muscle · 2022
13. Comparison of strength testing modalities in dysferlinopathyMuscle & Nerve · 2022
14. Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathyJournal of Cachexia Sarcopenia and Muscle · 2022
15. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis ApproachFrontiers in Neurology · 2022
16. Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal studyMuscle & Nerve · 2022
17. 4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutationsiScience · 2021
18. Assessing Dysferlinopathy Patients Over Three Years With a New Motor ScaleAnnals of Neurology · 2021
19. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same diseaseNeuromuscular Disorders · 2021
20. Combinatorial clinically driven blood biomarker functional genomics significantly enhances genotype-phenotype resolution and diagnostics in neuromuscular disease2021