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1Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India
Supriyo Choudhury,Sayan Chatterjee,Koustav Chatterjee,Rebecca Banerjee,Jonathan Humby,Banashree Mondal,Sidharth S. Anand,Shantanu Shubham,Hrishikesh Kumar
Movement Disorders Clinical Practice.2018;5(1)39
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2Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
Samya Chakravorty,Babi Ramesh Reddy Nallamilli,Satish Vasant Khadilkar,Madhu Bala Singla,Ashish Bhutada,Rashna Dastur,Pradnya Satish Gaitonde,Laura E Rufibach,Logan Gloster,Madhuri Hegde
Frontiers in Neurology.2020;11(1)39
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3Making sense of the clinical spectrum of limb girdle muscular dystrophies
Satish V Khadilkar,Bhagyadhan A Patel,Jamshed A Lalkaka
Practical Neurology.2018;18(3)201
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4A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees
Kamal Khan,Sarmad Mehmood,Chunyu Liu,Maimoona Siddiqui,Arsalan Ahmad,Belqees Yawar Faiz,Barry A. Chioza,Emma A. Baple,Muhammad I. Ullah,Zaineb Akram,Humayoon S. Satti,Raees Khan,Gaurav V. Harlalka,Muhammad Jameel,Talia Akram,Shahid M. Baig,Andrew H. Crosby,Muhammad J. Hassan,Feng Zhang,Erica E. Davis,Tahir N. Khan
American Journal of Medical Genetics Part A.2022;188(2)498
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5Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India
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Journal of Neuromuscular Diseases.2022;9(4)571
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6Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India
Abhinav Jain,Disha Sharma,Anjali Bajaj,Vishu Gupta,Vinod Scaria
Journal of Neuromuscular Diseases.2021;107(4)121
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7Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India
Aman Sharma,GSRSNK Naidu,Vikas Sharma,Saket Jha,Aaadhar Dhooria,Varun Dhir,Prateek Bhatia,Vishal Sharma,Sagar Bhattad,K. G. Chengappa,Vikas Gupta,Durga Prasanna Misra,Pallavi Pimpale Chavan,Sourabh Malaviya,Rajkiran Dudam,Banwari Sharma,Sathish Kumar,Rajesh Bhojwani,Pankaj Gupta,Vikas Agarwal,Kusum Sharma,Manphool Singhal,Manish Rathi,Ritambhra Nada,Ranjana W. Minz,Ved Chaturvedi,Amita Aggarwal,Rohini Handa,Alice Grossi,Marco Gattorno,Zhengping Huang,Jun Wang,Ramesh Jois,V. S. Negi,Raju Khubchandani,Sanjay Jain,Juan I. Arostegui,Eugene P. Chambers,Michael S. Hershfield,Ivona Aksentijevich,Qing Zhou,Pui Y. Lee
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8A rare case of late-onset limb-girdle muscular dystrophy: Calpainopathy
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AGING MEDICINE.2022;73(2)276
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9Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India
Pankaj Pathak,Mehar Chand Sharma,Pankaj Jha,Chitra Sarkar,Mohammed Faruq,Prerana Jha,Vaishali Suri,Rohit Bhatia,Sumit Singh,Sheffali Gulati,Mohammad Husain
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10Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India
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Journal of Neuromuscular Diseases.2018;8(1)131
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11Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India
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Global Medical Genetics.2022;09(01)034
[DOI]
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