Selected Publications

Columbres RCA, Chin Y, Pratti S, Quinn C, Gonzalez-Cuyar LF, Weiss M, Quintero-Rivera F, Kimonis V.: Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1. Genes (Basel) 14: 676, Mar 2023.

Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group.: Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. N Engl J Med 387: 1099-1110, Sep 2022.

Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group.: Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. J Neurol Neurosurg Psychiatry Jul 2022.

Paganoni, Sabrina, Hendrix, Suzanne, Dickson, Samuel P, Knowlton, Newman, Berry, James D, Elliott, Michael A, Maiser, Samuel, Karam, Chafic, Caress, James B, Owegi, Margaret Ayo, Quick, Adam, Wymer, James, Goutman, Stephen A, Heitzman, Daragh, Heiman-Patterson, Terry D, Jackson, Carlayne, Quinn, Colin, Rothstein, Jeffrey D, Kasarskis, Edward J, Katz, Jonathan, Jenkins, Liberty, Ladha, Shafeeq S, Miller, Timothy M, Scelsa, Stephen N, Vu, Tuan H, Fournier, Christina, Johnson, Kristin M, Swenson, Andrea, Goyal, Namita, Pattee, Gary L, Babu, Suma, Chase, Marianne, Dagostino, Derek, Hall, Meghan, Kittle, Gale, Eydinov, Mathew, Ostrow, Joseph, Pothier, Lindsay, Randall, Rebecca, Shefner, Jeremy M, Sherman, Alexander V, Tustison, Eric, Vigneswaran, Prasha, Yu, Hong, Cohen, Joshua, Klee, Justin, Tanzi, Rudolph, Gilbert, Walter, Yeramian, Patrick, Cudkowicz, Merit: Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial. J Neurol Neurosurg Psychiatry May 2022.

Thomas, Florian P, Brannagan, Thomas H, Butterfield, Russell J, Desai, Urvi, Habib, Ali A, Herrmann, David N, Eichinger, Katy J, Johnson-Cl, Nicholas E, Karam, Chafic, Pestronk, Alan, Quinn, Colin, Shy, Michael E, Statland, Jeffrey M, Subramony, Sub H, Walk, David, Stevens-Favorite, Katherine, Miller, Barry, Leneus, Ashley, Fowler, Marcie, van de Rijn, Marc, Attie, Kenneth M: Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease. Neurology May 2022.

McMillan CT,Wuu J,Rascovsky K,Cosentino S,Grossman M,Elman L,Quinn C,Rosario L,Stark JH,Granit V,Briemberg H,Chenji S,Dionne A,Genge A,Johnston W,Korngut L,Shoesmith C,Zinman L,(calsnic) TC,Kalra S,Benatar M : Defining cognitive impairment in amyotrophic lateral sclerosis: an evaluation of empirical approaches. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Taylor & Francis Page: 1-10, March 2022.

Li Y, Aleman TS, Quinn CC, Xia T, Miller CG, Kim BJ, Tamhankar MA.: Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss. J Neuroophthalmology 42(1): e381-e384, Mar 2022.

Paganoni S, Berry JD, Quintana M, Macklin E, Saville BR, Detry MA, Chase M, Sherman AV, Yu H, Drake K, Andrews J, Shefner J, Chibnik LB, Vestrucci M, Cudkowicz ME; Healey ALS Platform Trial Study Group.: Adaptive Platform Trials to Transform Amyotrophic Lateral Sclerosis Therapy Development. Ann Neurol 2022.

Cousins KAQ, Shaw LM, Shellikeri S, Dratch L, Rosario L, Elman LB, Quinn C, Amado DA, Wolk DA, Tropea TF, Chen-Plotkin A, Irwin DJ, Grossman M, Lee EB, Trojanowski JQ, McMillan CT.: Elevated Plasma Phosphorylated Tau 181 in Amyotrophic Lateral Sclerosis. Ann Neurol 2022.

Quinn C, Mcmillan CT, Owegi MA, Almasy K, Douthwright C, Mckenna-Yasek D, Goyal NA, Berry J, Brown RH.: Single breath counting is an effective screening tool for forced vital capacity in ALS. Amyotroph Lateral Scler Frontotemporal Degener 22(sup1): 5-8, Aug 2021.