Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome von Bardhan, Mainak, Polavarapu, Kiran, Bevinahalli, Nandeesh N., Veeramani, Preethish-Kumar, Anjanappa, Ram Murthy, Arunachal, Gautham, Shingavi, Leena, Vengalil, Seena, Nashi, Saraswati, Chawla, Tanushree, Nagabhushan, Divya, Mohan, Dhaarini, Horvath, Rita, Nishino, Ichizo, Atchayaram, Nalini

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Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations von Sanga, Shamita, Ghosh, Arnab, Kumar, Krishna, Polavarapu, Kiran, Preethish‐Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Arunachal, Gautham, Raju, Sanita, Gayathri, Narayanappa, Biswas, Nidhan K., Chakrabarti, Saikat, Nalini, Atchayaram, Roy, Sudipto, Acharya, Moulinath

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Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort von Baskar, Dipti, Veeramani-Kumar, Preethish, Polavarapu, Kiran, Nashi, Saraswati, Vengalil, Seena, Menon, Deepak, Thomas, Aneesha, Bhargava Sanka, Sai, Muddasu Suhasini, Keerthipriya, Huddar, Akshata, Unnikrishnan, Gopikrishnan, Bardhan, Mainak, Thomas, Priya Treesa, Manjunath, Nisha, Atchayaram, Nalini

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Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness von Owen, David, Töpf, Ana, Preethish‐Kumar, Veeramani, Lorenzoni, Paulo José, Vroling, Bas, Scola, Rosana Herminia, Dias‐Tosta, Elza, Geraldo, Argemiro, Polavarapu, Kiran, Nashi, Saraswati, Cox, Daniel, Evangelista, Teresinha, Dawson, John, Thompson, Rachel, Senderek, Jan, Laurie, Steven, Beltran, Sergi, Gut, Marta, Gut, Ivo, Nalini, Atchayaram, Lochmüller, Hanns

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Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies von Chen, Zhongbo, Maroofian, Reza, Başak, A. Nazlı, Shingavi, Leena, Karakaya, Mert, Efthymiou, Stephanie, Gustavsson, Emil K., Meier, Leyla, Polavarapu, Kiran, Vengalil, Seena, Preethish‐Kumar, Veeramani, Nandeesh, Bevinahalli N., Gökçe Güneş, Nalan, Akan, Onur, Candan, Fatma, Schrank, Bertold, Zuchner, Stephan, Murphy, David, Kapoor, Mahima, Ryten, Mina, Wirth, Brunhilde, Reilly, Mary M., Nalini, Atchayaram, Houlden, Henry, Sarraf, Payam

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Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis von Rajula, Rahul Reddy, Saini, Jitender, Unnikrishnan, Gopikrishnan, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Huddar, Akshata, Chawla, Tanushree, Sindhu, Dodmalur Malikarjuna, Ganaraja, Valakunja Harikrishna, Polavarapu, Kiran, Preethish‐Kumar, Veeramani, Kandavel, Thennarasu, Nalini, Atchayaram

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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... von Girija, Manu S, Menon, Deepak, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Keertipriya, Madassu, Bardhan, Mainak, Thomas, Priya T, Kiran, Valasani R, Nishadham, Vikas, Sadasivan, Arun, Huddar, Akshata, Unnikrishnan, Gopi K, Inbaraj, Ganagarajan, Krishnamurthy, Arjun, Kramer, Boris W, Sathyaprabha, Talakad N, Nalini, Atchayaram

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Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis von Rajula, Rahul Reddy, Saini, Jitender, Unnikrishnan, Gopikrishnan, Vengalil, Seena, Nashi, Saraswati, Bardhan, Mainak, Huddar, Akshata, Chawla, Tanushree, Sindhu, Dodmalur Mallikarjuna, Ganaraja, Valakunja Harikrishna, Polavarapu, Kiran, Preethish‐Kumar, Veeramani, Kandavel, Thennarasu, Sathyaprabha, Talakad N., Nalini, Atchayaram

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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian pati... von Polavarapu, Kiran, Mathur, Aradhna, Joshi, Aditi, Nashi, Saraswati, Preethish-Kumar, Veeramani, Bardhan, Mainak, Sharma, Pooja, Parveen, Shaista, Seth, Malika, Vengalil, Seena, Chawla, Tanushree, Shingavi, Leena, Shamim, Uzma, Nayak, Sushmita, Vivekanand, A., Töpf, Ana, Roos, Andreas, Horvath, Rita, Lochmüller, Hanns, Nandeesh, Bevinahalli, Arunachal, Gautham, Nalini, Atchayaram, Faruq, Mohammed

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Cardiac MRI in Duchenne and Becker Muscular Dystrophy von Girija, Manu Santhappan, Menon, Deepak, Polavarapu, Kiran, Preethish-Kumar, Veeramani, Vengalil, Seena, Nashi, Saraswati, Keertipriya, Madassu, Bardhan, Mainak, Thomas, Priya Treesa, Kiran, Valasani Ravi, Nishadham, Vikas, Sadasivan, Arun, Huddar, Akshata, Unnikrishnan, Gopi Krishnan, Barthur, Ashita, Nalini, Atchayaram

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Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy von Mhatre, Radhika, Sekar, Deepha, Ponmalar, Jessiena, Nagappa, Madhu, Veeramani, Preethish-Kumar, Polavarapu, Kiran, Vengalil, Seena, Atchayaram, Nalini, Narayanappa, Gayathri

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele von Zhu, Wenhua, Mitsuhashi, Satomi, Yonekawa, Takahiro, Noguchi, Satoru, Huei, Josiah Chai Yui, Nalini, Atchayaram, Preethish-Kumar, Veeramani, Yamamoto, Masayoshi, Murakata, Kenji, Mori-Yoshimura, Madoka, Kamada, Sachiko, Yahikozawa, Hiroyuki, Karasawa, Masato, Kimura, Seigo, Yamashita, Fumitada, Nishino, Ichizo

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C‐reactive protein levels in patients with amyotrophic lateral sclerosis: A systematic review von Kharel, Sanjeev, Ojha, Rajeev, Preethish‐Kumar, Veeramani, Bhagat, Riwaj

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Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele von Zhu, Wenhua, Mitsuhashi, Satomi, Yonekawa, Takahiro, Noguchi, Satoru, Huei, Josiah Chai Yui, Nalini, Atchayaram, Preethish-Kumar, Veeramani, Yamamoto, Masayoshi, Murakata, Kenji, Mori-Yoshimura, Madoka, Kamada, Sachiko, Yahikozawa, Hiroyuki, Karasawa, Masato, Kimura, Seigo, Yamashita, Fumitada, Nishino, Ichizo

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Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform von Preethish-Kumar, Veeramani, Shah, Apurva, Polavarapu, Kiran, Kumar, Manoj, Safai, Apoorva, Vengalil, Seena, Nashi, Saraswati, Deepha, Sekar, Govindaraj, Periyasamy, Afsar, Mohammad, Rajeswaran, Jamuna, Nalini, Atchayaram, Saini, Jitender, Ingalhalikar, Madhura

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Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation von Varghese, Anu Mary, Ghosh, Mausam, Bhagat, Savita Kumari, Vijayalakshmi, K., Preethish-Kumar, Veeramani, Vengalil, Seena, Chevula, Pradeep-Chandra-Reddy, Nashi, Saraswati, Polavarapu, Kiran, Sharma, Meenakshi, Dhaliwal, Rupinder Singh, Philip, Mariamma, Nalini, Atchayaram, Alladi, Phalguni Anand, Sathyaprabha, Talakad N., Raju, Trichur R.

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A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein von Santhoshkumar, Rashmi, Preethish-Kumar, Veeramani, Polavarapu, Kiran, Reghunathan, Dinesh, Chaudhari, Sima, Satyamoorthy, Kapaettu, Vengalil, Seena, Nashi, Saraswati, Faruq, Muhammed, Joshi, Aditi, Atchayaram, Nalini, Narayanappa, Gayathri

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Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy von Sanga, Shamita, Chakraborty, Sudipta, Bardhan, Mainak, Polavarapu, Kiran, Kumar, Veeramani Preethish, Bhattacharya, Chandrika, Nashi, Saraswati, Vengalil, Seena, Geetha, Thenral S., Ramprasad, Vedam, Nalini, Atchayaram, Basu, Analabha, Acharya, Moulinath

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A Dominant C150Y Mutation in FHL1 Induces Structural Alterations in LIM2 Domain Causing Protein Aggregation In Human and Drosophila Indirect Flight Muscles von Santhoshkumar, Rashmi, Preethish-Kumar, Veeramani, Mangalaparthi, Kiran K., Unni, Sruthi, Padmanabhan, Balasundaram, T. S., Keshava Prasad, Nongthomba, Upendra, Atchayaram, Nalini, Narayanappa, Gayathri

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Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort von Chawla, Tanushree, Reddy, Nishanth, Jankar, Rahul, Vengalil, Seena, Polavarapu, Kiran, Arunachal, Gautham, Preethish-Kumar, Veeramani, Nashi, Saraswati, Bardhan, Mainak, Rajeshwaran, Jamuna, Afsar, Mohammad, Warrier, Manjusha, Thomas, Priya, Thennarasu, Kandavel, Nalini, Atchayaram

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