PankajPrasunMD

PubMed

• Cockayne syndrome: A pediatric neurodegenerative disorder linking mitochondria to aging.
  Hatch, M., Donnelly, C., Prasun, P.> ;Journal of the Neurological Sciences. 2024 Feb 15
• 1 citations
  A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency.
  Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Bryn D Webb> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 20 citations
  COVID-19: A Mitochondrial Perspective.
  Pankaj Prasun> ;DNA and Cell Biology. 2021 Jun 8
• 7 citations
  Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis.
  Bryn D. Webb, Hilary Hotchkiss, Pankaj Prasun, Bruce D. Gelb, Lisa M. Satlin> ;European Journal of Human Genetics. 2021 Apr 12
• 43 citations
  Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.
  Pankaj Prasun, Ilona Ginevic, Kimihiko Oishi> ;Translational Gastroenterology and Hepatology. 2021 Jan 5
• 36 citations
  Germline AGO2 mutations impair RNA interference and human neurological development
  Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Gr...> ;Nature Communications. 2020 Nov 16
• 26 citations
  Role of mitochondria in pathogenesis of type 2 diabetes mellitus.
  Pankaj Prasun> ;Journal of Diabetes and Metabolic Disorders. 2020 Nov 2
• 4 citations
  Letter to the Editor: COVID-19, Mitochondria, and Interferon.
  Pankaj Prasun> ;Journal of Interferon & Cytokine Research. 2020 Sep 17
• 12 citations
  Mitochondrial translation defects and human disease.
  Bryn D. Webb, George A. Diaz, Pankaj Prasun> ;Journal of Translational Genetics and Genomics. 2020 May 23
• 116 citations
  Mitochondrial dysfunction in metabolic syndrome.
  Pankaj Prasun> ;Biochimica Et Biophysica Acta. Molecular Basis of Disease. 2020 Oct 1
• 4 citations
  Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease.
  Pankaj Prasun, Elisabeth Ferguson, Ayuko Iverson, Emalyn E Cork, Michael T. Dolinger, Stephen C Ward, Ronen Arnon> ;Journal of Pediatric Gastroenterology and Nutrition. 2019 Nov 1
• 3 citations
  Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".
  Pankaj Prasun, Cassie Mintz, Emalyn E Cork, Thomas P. Naidich, Bryn D. Webb> ;Journal of the Neurological Sciences. 2019 Nov 15
• 5 citations
  Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns
  Pankaj Prasun, Raghav Madan, Subhash Puthuraya, Divya Subramanian, Ishita Datta, Vaneet Kumar Kalra, Ronald Thomas, David W. Stockton, Senthil K. Sundaram, Joseph H. C...> ;Developmental Neuroscience. 2018 Jan 1
• 33 citations
  MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
  Ayman W. El-Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, ...> ;Human Mutation. 2018 Apr 1
• 1 citations
  Skin lesions in a patient with Cobalamin C disease in poor metabolic control
  Pankaj Prasun, Cristel C. Chapel-Crespo, Amy Williamson, Paul Chu, Kimihiko Oishi, George A. Diaz> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
• 4 citations
  Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
  Cristel C. Chapel-Crespo, Sajel M. Lala, Pankaj Prasun> ;Pediatric Neurology. 2017 Oct 1
• 23 citations
  Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-...
  Pankaj Prasun, Sarah P. Young, Gajja S. Salomons, Andrea Werneke, Yong-hui Jiang, Eduard A. Struys, Mikell Paige, Maria Laura Avantaggiati, Marie T. McDonald> ;JIMD Reports. 2015 Jan 23
• 1 citations
  Right frontal lobe encephalomalacia in an adult propionic acidemia patient with neuropsychiatric manifestations.
  Pankaj Prasun, Lauren A. Bailey, Priya S. Kishnani> ;Molecular Genetics and Metabolism Reports. 2014 Sep 21
• 1 citations
  Rare variant of unknown significance in POLG1 and diagnostic dilemma.
  Pankaj Prasun> ;Journal of Neurology. 2014 Sep 11
• 4 citations
  Late onset Leigh syndrome mimicking central nervous system vasculitis.
  Pankaj Prasun, Loren Del Mar Pena> ;Molecular Genetics and Metabolism Reports. 2014 Jul 26
• 12 citations
  Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.
  Pankaj Prasun, Dwight D. Koeberl> ;Journal of Neurology. 2014 Jul 15
• 7 citations
  Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness.
  Pankaj Prasun, Deniz Altinok, Vinod K. Misra> ;Journal of Child Neurology. 2015 May 1
• 13 citations
  Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay.
  Pankaj Prasun, Michael Hankerd, Melissa Kristofice, Lindsey Scussel, Lalitha Sivaswamy, Salah A.D. Ebrahim> ;American Journal of Medical Genetics. Part A. 2014 Jul 1
• 1 citations
  Declining school performance as a harbinger of a treatable neurodegenerative condition.
  Pankaj Prasun, Vinod K. Misra> ;The Journal of Pediatrics. 2012 Jun 1
• 5 citations
  Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.
  Pankaj Prasun, Swati A. Karmarkar, Ajay Agarwal, David W. Stockton> ;Clinical Dysmorphology. 2012 Jan 1
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