MichaelMurielloMD

PubMed

• The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder.
  Jeong, H., Engel, J., Basel, D., Slavens, B., Muriello, M.> ;Gait & Posture. 2024 Mar 1
• Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant.
  Wong, I., Cramer, J., Horton, D., Basel, D., Teng, R., Muriello, M., Elkadri, A., Scott, W.> ;American Journal of Medical Genetics. Part A. 2024 Apr 1
• 3 citations
  Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised p...
  Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam ...> ;Journal of Medical Genetics. 2023 Nov 8
• 1 citations
  Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
  Hyo-Jung Jeong, Joyce M Engel, Olivia Wilwert, Michael Muriello, Donald Basel, Brooke A Slavens> ;Physical & Occupational Therapy in Pediatrics. 2023 Jan 1
• 3 citations
  TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
  Hadia Hijazi, Linda M Reis, Davut Pehlivan, Jonathan A Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A Estiar, Ziv Gan-Or, Guy A Rouleau, Ekaterina...> ;American Journal of Human Genetics. 2022 Dec 1
• Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.
  You Wang, Julia L Clemens, Michael Muriello, Weiyi Mu, Christy H Smith, Phuong T Tran, Peter C Rowe, Clair Francomano, Antonie D Kline, Joann Bodurtha> ;Journal of Child Health Care. 2022 Sep 21
• 4 citations
  Rapid Exome and Genome Sequencing in the Intensive Care Unit.
  Michael Muriello, Donald Basel> ;Critical Care Clinics. 2022 Apr 1
• 4 citations
  Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit.
  Michael Muriello> ;Clinics in Perinatology. 2022 Mar 1
• 17 citations
  Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
  Francisco Del Caño-Ochoa, Bobby G. Ng, Malak Abedalthagafi, Mohammed Almannai, Ronald D. Cohn, Gregory Costain, Orly Elpeleg, Henry Houlden, Ehsan Ghayoor Karimiani, P...> ;Genetics in Medicine. 2020 May 28
• 28 citations
  Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
  Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong Teck Tan, Michelle Eio, Gunaseelan Narayana...> ;Nature Communications. 2020 Jan 30
• 30 citations
  Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders
  Weiyi Mu, Michael Muriello, Julia L. Clemens, You Wang, Christy H. Smith, Phuong T. Tran, Peter C. Rowe, Clair A. Francomano, Antonie D. Kline, Joann Bodurtha> ;American Journal of Medical Genetics. Part A. 2019 Apr 1
• 7 citations
  Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
  Michael Muriello, Alexander Y. Kim, Krista Sondergaard Schatz, Natalie Beck, Meral Gunay-Aygun, Julie Hoover-Fong> ;American Journal of Medical Genetics. Part A. 2019 Mar 1
• 10 citations
  Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.
  Michael Muriello, Julia L. Clemens, Weiyi Mu, Phuong T. Tran, Peter C. Rowe, Christy H. Smith, Clair A. Francomano, Joann Bodurtha, Antonie D. Kline> ;American Journal of Medical Genetics. Part A. 2018 Sep 1
• 5 citations
  Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
  Michael Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos Ferreira> ;Molecular Genetics and Metabolism Reports. 2017 Dec 1
• 4 citations
  McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney injury.
  Xixi Zhao, Angela Li, Madhu Soni, Michael Muriello, Carolyn Jones, William L. Whittier> ;CEN Case Reports. 2017 Jun 28
• 7 citations
  Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature.
  Garrett Jones, Michael Muriello, Aloka L. Patel, Latania K. Logan> ;Journal of the Pediatric Infectious Diseases Society. 2015 Jun 1
• 20 citations
  Treatment of inpatient hyperglycemia beginning in the emergency department: A randomized trial using insulins aspart and detemir compared with usual care
  Jennifer B. Bernard, Christina Munoz, Jaime Harper, Michael Muriello, Edward Rico, David S. Baldwin> ;Journal of Hospital Medicine. 2011 May 1
• Join now to see all