Team Publications

2021

  • Gushchina LV, Frair EC, Rohan NL, Bradley AJ, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan K Lack of toxicity in non-human primates receiving clinically relevant doses of an AAV9.U7snRNA vector designed to induce DMD exon 2 skipping. Hum Gene Ther 2021 Jan 6

2020

  • Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A 2020 Mar 182 557-560
  • Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis 2020 Dec 22
  • Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle 2020 Aug 7 10 23
  • Bowden SA, Goldis M Congenital Hypothyroidism 2020 Jan
  • Broderick JP, Elm JJ, Janis LS, Zhao W, Moy CS, Dillon CR, Chimowitz MI, Sacco RL, Cramer SC, Wolf SL, Johnston KC, Saver JL, Marshall RS, Brown D, Wintermark M, Elkind MSV, Kamel H, Tirschwell DL, Longstreth WT, Chervin RD, Adeoye OM, Barreto AD, Grotta JC, Ramey SL, Lo WD, Feng W, Schlaug G, Sheth KN, Selim M, Naidech AM, Lansberg MG, Lazar RM, Albers GW, Griffin JS, Sirline LP, Frasure J, Wright CB, Khatri P, NIH StrokeNet Investigators. National Institutes of Health StrokeNet During the Time of COVID-19 and Beyond. Stroke 2020 Aug 51 2580-2586
  • Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res 2020 Oct 9 973-984
  • Chiang S, Moss R, Patel AD, Rao VR Seizure detection devices and health-related quality of life: A patient- and caregiver-centered evaluation. Epilepsy Behav 2020 Feb 21 105 106963
  • Dawes A, Attipoe S, Mittlesteadt J, Glynn P, Rust S, Debs A, Patel AD Measuring the impact of epilepsy on families. Epilepsy Behav 2020 Jun 28 111 107254
  • Dornbos D, Monson C, CNP., Look A, Huntoon K, Smith LGF, Leonard JR, Dhall SS, Sribnick EA Validation of the Surgical Intervention for Traumatic Injury scale in the pediatric population. J Neurosurg Pediatr 2020 Apr 10 1-6
  • Goeggel Simonetti B, Rafay MF, Chung M, Lo WD, Beslow LA, Billinghurst LL, Fox CK, Pagnamenta A, Steinlin M, Mackay MT, IPSS Study Group. Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke Study. Neurology 2020 Jan 28 94 e337-e344
  • Goeggel Simonetti B, Rafay MF, Chung M, Lo WD, Beslow LA, Billinghurst LL, Fox CK, Pagnamenta A, Steinlin M, Mackay MT, IPSS Study Group. Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke Study. Neurology 2020 Jan 28 94 e337-e344
  • Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Pomeroy SL, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh J, Pearl PL, Child Neurology Society (Practice Committee and Executive Board) and the Pediatric Epilepsy Research Consortium (Infantile Spasms Special Interest Group and Steering Committee). Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol 2020 May 22
  • Grinspan ZM, Mytinger JR, Baumer FM, Ciliberto MA, Cohen BH, Dlugos DJ, Harini C, Hussain SA, Joshi SM, Keator CG, Knupp KG, McGoldrick PE, Nickels KC, Park JT, Pasupuleti A, Patel AD, Shahid AM, Shellhaas RA, Shrey DW, Singh RK, Wolf SM, Yozawitz EG, Yuskaitis CJ, Waugh JL, Pearl PL Management of Infantile Spasms During the COVID-19 Pandemic. J Child Neurol 2020 Jun 23 883073820933739
  • Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat 2020 Mar 41 632-640
  • Klawonn MA, Klamar K, Turk MA Trends in publications about cerebral palsy 1990 to 2020. J Pediatr Rehabil Med 2020 Jun 12
  • Lee R, Maltz RM, Crandall WV, Plogsted SW, Shaikhkhalil AK, Bowden SA, Mezoff EA Single High-dose Vitamin D3 Supplementation in Pediatric Patients With Inflammatory Bowel Disease and Hypovitaminosis D. J Pediatr Gastroenterol Nutr 2020 Apr 70 e77-e80
  • Lo W, Li X, Hoskinson K, McNally K, Chung M, Lee J, Wang J, Lu ZL, Yeates K Pediatric Stroke Impairs Theory of Mind Performance. J Child Neurol 2020 Mar 35 228-234
  • Lo W, Li X, Hoskinson K, McNally K, Chung M, Lee J, Wang J, Lu ZL, Yeates K Pediatric Stroke Impairs Theory of Mind Performance. J Child Neurol 2020 Mar 35 228-234
  • McKinney JL, Islam MP Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy. Childs Nerv Syst 2020 Mar 26
  • Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. JAMA Neurol 2020 Jun 15
  • Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol 2020 Dec 113 15-20
  • Mittlesteadt J, Bambach S, Dawes A, Wentzel E, Debs A, Sezgin E, Digby D, Huang Y, Ganger A, Bhatnagar S, Ehrenberg L, Nunley S, Glynn P, Lin S, Rust S, Patel AD Evaluation of an Activity Tracker to Detect Seizures Using Machine Learning. J Child Neurol 2020 Jul 17 883073820937515
  • Mull ES, Erdem G, Nicol K, Adler B, Shell R Eosinophilic Pneumonia and Lymphadenopathy Associated With Vaping and Tetrahydrocannabinol Use. Pediatrics 2020 Mar 26
  • O'Brien NF, Lovett ME, Chung M, Maa T Non-invasive estimation of cerebral perfusion pressure using transcranial Doppler ultrasonography in children with severe traumatic brain injury. Childs Nerv Syst 2020 Sep 36 2063-2071
  • Press CA, Kirschen M, LaRovere K, Risen S, Guilliams KP, Chung M, Griffith J, Erklauer J, Peariso K, Ducharme-Crevier L, Shah SS, Hall M, Wainwright MS Variation in Treatment and Outcomes of Children With Acute Disseminated Encephalomyelitis. Hosp Pediatr 2020 Feb 10 159-165
  • Schunemann V, Wang JL, Dornbos D 3rd, Youssef PP, Sribnick E, Leonard J, Nimjee SM Reply to Letter to the Editor Regarding "One and Done: Multimodal Treatment of Pediatric Arteriovenous Malformations in a Single Anesthesia Event". World Neurosurg 2020 Jan 133 441-442
  • Smith GA, Chounthirath T, Splaingard M Comparison of the effectiveness of female voice, male voice, and hybrid voice-tone smoke alarms for sleeping children. Pediatr Res 2020 Mar 13
  • Smith GA, Chounthirath T, Splaingard M Do Sleeping Children Respond Better to a Smoke Alarm That Uses Their Mother's Voice? Acad Pediatr 2020 Apr 20 319-326
  • Squires M, Sribnick EA An Investigation of Hiccups. Pediatr Neurol 2020 May 106 70-71
  • Sribnick EA, Hensley J, Moore-Clingenpeel M, Muszynski JA, Thakkar RK, Hall MW Nosocomial Infection Following Severe Traumatic Injury in Children. Pediatr Crit Care Med 2020 May 21 443-450
  • Tillotson CV, Bowden SA, Boktor SW Pediatric Type 2 Diabetes Mellitus 2020 Jan
  • Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis 2020 7 217-229
  • Weisleder P Helping Them Decide: A Scoping Review of Interventions Used to Help Minors Understand the Concept and Process of Assent. Front Pediatr 2020 8 25
  • Wirrell EC, Grinspan ZM, Knupp KG, Jiang Y, Hammeed B, Mytinger JR, Patel AD, Nabbout R, Specchio N, Cross JH, Shellhaas RA Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians. J Child Neurol 2020 Jul 15 883073820940189

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