Detection of dysferlin gene pathogenic variants in the Indian Population in patients predicted to have a dysferlinopathy using a blood-based monocyte assay and clinical algorithm: A model for accurate and cost-effective diagnosis-Reference-Cited by-同舟云学术

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Detection of dysferlin gene pathogenic variants in the Indian Population in patients predicted to have a dysferlinopathy using a blood-based monocyte assay and clinical algorithm: A model for accurate and cost-effective diagnosis

Published:2017 Issue:3 Volume:20 Page:302
ISSN:0972-2327
Container-title:Annals of Indian Academy of Neurology
language:en
Short-container-title:Ann Indian Acad Neurol

Author:

Dastur RashnaSam,Gaitonde PradnyaSatish,Kachwala Munira,Nallamilli BabiR.R,Ankala Arunkanth,Khadilkar SatishV,Atchayaram Nalini,Gayathri N,Meena AK,Rufibach Laura,Shira Sarah,Hegde Madhuri

Publisher

Medknow

Subject

Neurology (clinical)

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities;International Journal of Molecular Sciences;2024-05-21

2. Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy;Journal of Personalized Medicine;2023-03-13

3. Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India;neurogenetics;2022-12-29

4. Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses;Frontiers in Neurology;2021-02-04

5. Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent;Frontiers in Neurology;2020-11-05

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