Michael Muriello, MD

Publications

• Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.

  (Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S.) Genet Med. 2020 Oct;22(10):1598-1605 PMID: 32461667 PMCID: PMC7521996 05/29/2020

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

  (Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B.) Nat Commun. 2020 01 30;11(1):595 PMID: 32001716 PMCID: PMC6992768 02/01/2020

• Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

  (Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J.) Am J Med Genet A. 2019 04;179(4):561-569 PMID: 30703284 PMCID: PMC7029373 02/01/2019

• Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

  (Muriello M, Kim AY, Sondergaard Schatz K, Beck N, Gunay-Aygun M, Hoover-Fong JE.) Am J Med Genet A. 2019 03;179(3):410-416 PMID: 30672094 PMCID: PMC7038632 01/24/2019

• Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.

  (Muriello M, Clemens JL, Mu W, Tran PT, Rowe PC, Smith CH, Francomano C, Bodurtha J, Kline AD.) Am J Med Genet A. 2018 09;176(9):1858-1864 PMID: 30178919 PMCID: PMC6528463 09/05/2018

• Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia.

  (Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR.) Mol Genet Metab Rep. 2017 Dec;13:9-12 PMID: 28748147 PMCID: PMC5512230 07/28/2017

• McArdle disease: a pediatric disorder presenting in an adult with acute kidney injury.

  (Zhao X, Li A, Soni M, Muriello MJ, Jones CH, Whittier WL.) CEN Case Rep. 2017 Nov;6(2):156-160 PMID: 28660497 PMCID: PMC5694403 07/01/2017

• Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature.

  (Jones G, Muriello M, Patel A, Logan L.) J Pediatric Infect Dis Soc. 2015 Jun;4(2):155-8 PMID: 26407416 09/26/2015

• Treatment of inpatient hyperglycemia beginning in the emergency department: a randomized trial using insulins aspart and detemir compared with usual care.

  (Bernard JB, Munoz C, Harper J, Muriello M, Rico E, Baldwin D.) J Hosp Med. 2011 May;6(5):279-84 PMID: 21661100 06/11/2011