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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A?>?C |
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| Mainak Bardhan, Ram Murthy Anjanappa, Kiran Polavarapu, Veeramani Preethish-Kumar, Seena Vengalil, Saraswati Nashi, Shamita Sanga, Hansashree Padmanabh, Ravi Kiran Valasani, Vikas Nishadham, Muddasu Keerthipriya, Thenral S. Geetha, Vedam Ramprasad, Gautham Arunachal, Priya Treesa Thomas, Moulinath Acharya, Atchayaram Nalini |
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Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent |
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| 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 |
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| Frontiers in Neurology. 2020; 11 |
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LIMB GIRDLE MUSCULAR DYSTROPHY IN EARLY CHILDHOOD- CLINICAL HETEROGENEITY AND CLUE TO EARLY DIAGNOSIS |
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| Beena Vasanthy, Vijayan Chandrathil Parameswaran Nair |
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| Journal of Evidence Based Medicine and Healthcare. 2018; 5(41): 2907 |
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Emerging therapeutic strategies for sarcoglycanopathy |
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| Marcello Carotti,Chiara Fecchio,Dorianna Sandonà |
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| Corrado Angelini,Marina Fanin |
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LGMD2E is the most common type of sarcoglycanopathies in the Iranian population |
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| Afagh Alavi,Sara Esmaeili,Yalda Nilipour,Shahriar Nafissi,Seyed Hasan Tonekaboni,Gholamreza Zamani,Mahmoud Reza Ashrafi,Kimia Kahrizi,Hossein Najmabadi,Fatemeh Jazayeri |
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?-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort |
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| Imene Dalichaouche,Yamina Sifi,Carinne Roudaut,Karima Sifi,Abdelmadjid Hamri,Leila Rouabah,Noureddine Abadi,Isabelle Richard |
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| Corrado Angelini,Marina Fanin |
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| Marzieh Mojbafan,Yalda Nilipour,Seyed Hasan Tonekaboni,Samira Dabbagh Bagheri,Hamideh Bagherian,Zohreh Sharifi,Zahra Zeinali,Javad Tavakkoly-Bazzaz,Sirous Zeinali |
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| Vincenzo Nigro,Giulio Piluso |
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| Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2015; 1852(4): 585 |
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Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations |
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| Arunkanth Ankala,Parag M. Tamhankar,C. Alexander Valencia,Krishna K. Rayam,Manisha M. Kumar,Madhuri R. Hegde |
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| Human Mutation. 2015; 36(1): 1 |
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The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation |
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| Babameto-Laku, A. and Tabaku, M. and Tashko, V. and Cikuli, M. and Mokini, V. |
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Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications |
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| Tayebeh Soheili, Evelyne Gicquel, Jérôme Poupiot, Luu NæGuyen, Florence Le Roy, Marc Bartoli, Isabelle Richard |
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| Human Mutation. 2011; : n/a |
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15 |
Limb girdle muscular dystrophies |
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| Vincenzo Nigro,Stefania Aurino,Giulio Piluso |
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