Selected Publications

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.

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.

Baer M and Quinn C: Advance Care Planning in Amyotrophic Lateral Sclerosis. Practical Neurology July/Aug 2021 Notes: https://practicalneurology.com/articles/2021-july-aug/advance-care-planning-in-amyotrophic-lateral-sclerosis.

Guo MH, Bardakjian TM, Brzozowski MR, Scherer SS, Quinn C, Elman L, Orthmann-Murphy J, Tropea TF, Ellis CA, Gonzalez-Alegre P.: Temporal trends and yield of clinical diagnostic genetic testing in adult neurology. Am J Med Genet A 185(10): 2922-2928, Jun 2021.

van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA.: Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. J Clin Invest 131: 145700, May 2021.

Placek K, Benatar M, Wuu J, Rampersaud E, Hennessy L, Van Deerlin VM, Grossman M, Irwin DJ, Elman L, McCluskey L, Quinn C, Granit V, Statland JM, Burns TM, Ravits J, Swenson A, Katz J, Pioro EP, Jackson C, Caress J, So Y, Maiser S, Walk D, Lee EB, Trojanowski JQ, Cook P, Gee J, Sha J, Naj AC, Rademakers R; CReATe Consortium, Chen W, Wu G, Paul Taylor J, McMillan CT.: Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. EMBO Mol Med 13: e12595, Jan 2021.

Paganoni S, Hendrix S, Dickson SP, Knowlton N, Macklin EA, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson TD, Jackson CE, Quinn C, Rothstein JD, Kasarskis EJ, Katz J, Jenkins L, Ladha S, Miller TM, Scelsa SN, Vu TH, Fournier CN, Glass JD, Johnson KM, Swenson A, Goyal NA, Pattee GL, Andres PL, Babu S, Chase M, Dagostino D, Hall M, Kittle G, Eydinov M, McGovern M, Ostrow J, Pothier L, Randall R, Shefner JM, Sherman AV, St Pierre ME, Tustison E, Vigneswaran P, Walker J, Yu H, Chan J, Wittes J, Yu ZF, Cohen J, Klee J, Leslie K, Tanzi RE, Gilbert W, Yeramian PD, Schoenfeld D, Cudkowicz ME.: Long-term survival of participants in the CENTAUR trial of sodium phenylbutyrate-taurursodiol in amyotrophic lateral sclerosis. Muscle & Nerve 63(1): 31-39, Jan 2021 Notes: doi: 10.1002/mus.27091. Epub 2020 Oct 30.