Selected Publications

Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J; VCP International Study Group.: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy. Neurol Genet 11: e200265, Jul 2025.

Fournier CN, Quinn CC.: The Amyotrophic Lateral Sclerosis Multidisciplinary Clinic: Broke but Not Broken. Neurology 104: e210189, Feb 2025.

Austin MA, Supple GE, Carrell S, Quinn C, Elman L, Nazarian S.: Atrial Fibrillation and Flutter in a Contemporary Cohort of Patients With Myotonic Muscular Dystrophy. JACC Clin Electrophysiol Jan 2025.

Fournier CN, Levine M, Simmons K, García-Santibáñez RC, Rowland A, Quinn CC, Ho DT, Bedlack RS, Glass JD.: ALS Motor Observational Telemedicine Objective Rasch-Built Assessment: A Quantitative Scale for the Era of Teleneurology. Neurol Clin Pract Jan 2025.

Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group.: Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. J Patient Rep Outcomes 8: 132, Nov 2024.

Morganroth J, Bardakjian TM, Dratch L, Quinn CC, Elman LB.: Enhancing Clinical Infrastructure for the Delivery of Intrathecal and Genetic Therapies: A Qalsody (Tofersen) Model for Patients With SOD1-ALS. Neurol Clin Pract May 2024.

Benatar M, Hansen T, Rom D, Geist MA, Blaettler T, Camu W, Kuzma-Kozakiewicz M, van den Berg LH, Morales RJ, Chio A, Andersen PM, Pradat PF, Lange D, Van Damme P, Mora G, Grudniak M, Elliott M, Petri S, Olney N, Ladha S, Goyal NA, Meyer T, Hanna MG, Quinn C, Genge A, Zinman L, Jabari D, Shoesmith C, Ludolph AC, Neuwirth C, Nations S, Shefner JM, Turner MR, Wuu J, Bennett R, Dang H, Sundgreen C; ORARIALS-01 trial team.: Safety and efficacy of arimoclomol in patients with early amyotrophic lateral sclerosis (ORARIALS-01): a randomised, double-blind, placebo-controlled, multicentre, phase 3 trial. Lancet Neurol May 2024.

Quinn C, Baer M, Amado DA, Kelley M, Elman L.: A single ALS center experience with clinical use of sodium phenylbutyrate-taurursodiol. Muscle Nerve Apr 2024.

Baldwin A, Copeland J, Azage M, Dratch L, Johnson K, Paul RA, Amado DA, Baer M, Deik A, Elman LB, Guo M, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn CC, Tropea TF, Scherer SS, Shinohara RT, Hamilton RH, Ellis CA.: Disparities in Genetic Testing for Neurologic Disorders. Neurology 102: e209161, Mar 2024.

Dratch L, Bardakjian TM, Johnson K, Babaian N, Gonzalez-Alegre P, Elman L, Quinn C, Guo MH, Scherer SS, Amado DA.: The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics. Biology (Basel) 13: 93, Feb 2024.