Publicaciones Imprimir do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. Brain. 2022 Dec 19; 145 (12):4202-4209 View PubMed Malaty IA, Anderson S, Bennett SM, Budman CL, Coffey BJ, Coffman KA, Greenberg E, McGuire JF, Muller-Vahl KR, Okun MS, Quezada J, Robichaux-Viehoever A, Black KJ. Diagnosis and Management of Functional Tic-Like Phenomena. J Clin Med. 2022 Oct 31; 11 (21) View PubMed Gelineau-Morel R, Kruer MC, Garris JF, Abu Libdeh A, Barbosa DAN, Coffman KA, Moon D, Barton C, Zea Vera A, Bruce AB, Larsh T, Wu SW, Gilbert DL, O'Malley JA. Deep Brain Stimulation for Pediatric Dystonia: A Review of the Literature and Suggested Programming Algorithm. J Child Neurol. 2022 Oct; 37 (10-11):813-824 Epub 2022 Sept 02 View PubMed Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 Jun; 24 (6):1336-1348 Epub 2022 Mar 16 View PubMed Berg AT, Coffman K, Gaebler-Spira D. Dysautonomia and functional impairment in rare developmental and epileptic encephalopathies: the other nervous system. Dev Med Child Neurol. 2021 Dec; 63 (12):1433-1440 Epub 2021 July 11 View PubMed Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Mol Genet Genomic Med. 2021 Apr; 9 (4):e1647 Epub 2021 Mar 05 View PubMed Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Topf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bonnemann CG, Shutt TE, Care4Rare Canada Consortium. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Dec; 138 (6):1013-1031 Epub 2019 Aug 29 View PubMed Gilbert DL, Murphy TK, Jankovic J, Budman CL, Black KJ, Kurlan RM, Coffman KA, McCracken JT, Juncos J, Grant JE, Chipkin RE. Ecopipam, a D1 receptor antagonist, for treatment of tourette syndrome in children: A randomized, placebo-controlled crossover study. Mov Disord. 2018 Aug; 33 (8):1272-1280 Epub 2018 Sept 07 View PubMed Nagesh D, Goeden M, Coffman KA. Pediatric Iatrogenic Movement Disorders. Semin Pediatr Neurol. 2018 Apr; 25:113-122 Epub 2018 Feb 12 View PubMed Quezada J, Coffman KA. Current Approaches and New Developments in the Pharmacological Management of Tourette Syndrome. CNS Drugs. 2018 Jan; 32 (1):33-45 View PubMed Yaeger SK, Perry MC, Caperell K, Coffman KA, Hickey RW. Ropivacaine Intramuscular Paracervical Injections for Pediatric Headache: A Randomized Placebo-Controlled Trial. Ann Emerg Med. 2017 Sep; 70 (3):323-330 Epub 2017 Apr 29 View PubMed Allison T, Roncero I, Forsyth R, Coffman K, Pichon JL. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. J Child Neurol. 2017 May; 32 (6):528-532 Epub 2017 Jan 24 View PubMed Zuccarelli B, Coffman KA. Reducing after-hours prescription refill requests. Neurol Clin Pract. 2016 Oct; 6 (5):429-432 View PubMed Greene S, Bansal L, Coffman KA, Nardone R, Zuccoli G. Pial Synangiosis Ameliorates Movement Disorders in the Absence of Prior Stroke in Moyamoya Disease. J Child Neurol. 2016 Apr; 31 (5):646-51 Epub 2015 Oct 08 View PubMed Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 gamma recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar; 36 (3):301-6 View PubMed Coffman KA, Dum RP, Strick PL. Cerebellar vermis is a target of projections from the motor areas in the cerebral cortex. Proc Natl Acad Sci U S A. 2011 Sep 20; 108 (38):16068-73 Epub 2011 Sept 12 View PubMed Tormenti MJ, Tomycz ND, Coffman KA, Kondziolka D, Crammond DJ, Tyler-Kabara EC. Bilateral subthalamic nucleus deep brain stimulation for dopa-responsive dystonia in a 6-year-old child. J Neurosurg Pediatr. 2011 Jun; 7 (6):650-3 View PubMed PST-20564297 Inicio Publicaciones