Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India by Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Vikas Krishnanada, Rima Sathyakumar, Anita Mahadevan

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Giant Axonal Neuropathy in a Child with Stop-Gain Variant in GAN Gene by Varunvenkat M. Srinivasan, Rani Manisha, Mayank Nilay, Bhanu Kiran Bhakhri, Dharmendra Kumar Singh

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Unmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications–Challenges in Diagnosis and Management by Vykuntaraju K Gowda, Priyanka A Nayak, Uddhava V Kinhal, Amaresh Roy, Varunvenkat M Srinivasan

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HPDL Variant Type Correlates With Clinical Disease Onset and Severity by Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson

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