Rahul Phadke

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Diagnosis of Neuroinvasive Astrovirus Infection in an Immunocompromised Adult With Encephalitis by Unbiased Next-Generation Sequencing

Samia N. Naccache, Karl S. Peggs, Frank Mattes et al. · Clinical Infectious Diseases · 2015 · 304 citations · Full text

Veterinary Medicine, Infectious Diseases, Neurology +7

Qualitative Ultrasound in Acute Critical Illness Muscle Wasting

Zudin Puthucheary, Rahul Phadke, Jaikitry Rawal et al. · Critical Care Medicine · 2015 · 258 citations · Full text

Medicine, Pathology, Radiology +17

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

A. Reghan Foley, Manoj P. Menezes, Amelie Pandraud et al. · Brain · 2013 · 182 citations · Full text

Life Sciences, Genetics, Neurology +15

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

Medicine, Molecular Genetics, Pathology +13