Respiratory shoulder synkinesis: A rare case report von Baskar, Dipti, Vengalil, Seena, Nashi, Saraswati, Kamble, Nitish, Nalini, Atchayaram

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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, Nagabushana, Divya, Mohan, Dhaarini, Horvath, Rita, Nishino, Ichizo, Atchayaram, Nalini

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OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy von Jain, Agam, Nashi, Saraswati, Mailankody, Pooja, Srijithesh, P R, Kulkarni, Girish B, Alladi, Suvarna, Bhatia, Saloni, Arunachal, Gautham

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Morvan's Syndrome with Myasthenia Gravis: An Autoimmune or Paraneoplastic Association? von Menon, Deepak, Chakkera, Priyanka, Jha, Shreyashi, Kumar, B Pradeep, Anjusha, Jss, Sena, M Chandra, Rao, Shilpa, Arshad, Faheem, Nashi, Saraswati, Vengalil, Seena, Alladi, Suvarna, Nalini, Atchayaram

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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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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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The Connecting Link: A Case Report of the First Association of COVID-19 and Progressive Multifocal Leukoencephalopathy von Varghese, Nibu, Dhar, Debjyoti, Mukherjee, Anuran, Nashi, Saraswati, Nandeesh, B N, Kulkarni, Girish B, Taallapalli, Ashok Vardhan Reddy, Alladi, Suvarna

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Sensory neuropathy in spinocerebellar ataxia type 14: A novel phenotype von Nashi, Saraswati, Singh, Raviprakash, Menon, Deepak, Arshad, Faheem, Alladi, Suvarna, Mahale, Rohan

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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant von Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns

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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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Cerebral Sparganosis - An Unusual Parasitic Infection Mimicking Cerebral Tuberculosis: Isolation of a Live Plerocercoid Larva of Spirometra mansoni von Rathore, Abhishek, Padmanabha, Hansashree, Mahale, Rohan, Arora, Ankit, Goyal, Aditi, Reddy, Jeevika, Sipani, Mahak, Pruthi, Nupur, Lingaraju, T S, Nagarathna, S, Yasha, T C, Saini, Jitender, Nashi, Saraswati, Pooja, M, Mathuranath, P S

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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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Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual von Dash, Suravi Sasmita, Arunachal, Gautham, Nimonkar, Madhura Milind, Vengalil, Seena, Nashi, Saraswati, Chetan, Ghati K., Boddu, Vijay Kumar, Nalini, Atchayaram, Markandeya, Yogananda S.

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Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India von Nashi, ‬Saraswati, Polavarapu, Kiran, Bardhan, Mainak, Anjanappa, Ram Murthy, Preethish-Kumar, Veeramani, Vengalil, Seena, Padmanabha, Hansashree, Geetha, Thenral S., Prathyusha, P. V., Ramprasad, Vedam, Joshi, Aditi, Chawla, Tanushree, Unnikrishnan, Gopikirshnan, Sharma, Pooja, Huddar, Akshata, Uppilli, Bharathram, Thomas, Abel, Baskar, Dipti, Mathew, Susi, Menon, Deepak, Arunachal, Gautham, Faruq, Mohammed, Thangaraj, Kumarasamy, Nalini, Atchayaram

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Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy von Padmanabha, Hansashree, Arunachal, Gautham, Kishore, Pratik, Sharma, P, Mailankody, Pooja, Mahale, Rohan, Nashi, Saraswati, Mathuranath, P, Chandra, Sadanandavalli

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Late-Onset Presentation of Spastic Paraplegia 3A ( ATL1 -HSP) and Its Rare Occurrence with Multiple Spinal Neurofibromas von Davuluri, Anudeep Ds, Ananthasubramanian, Sangeeth T, Nashi, Saraswati, Arshad, Faheem, Padmanabha, Hansashree, Vengalil, Seena, Mahale, Rohan, Mailankody, Pooja, Srijithesh, P R, Kulkarni, Girish B, Pavagada, Mathuranath S, Alladi, Suvarna, Nalini, Atchayaram

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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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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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