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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
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. Schiava M, et al. Among authors: quinn c. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: quinn c. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial.
Paganoni S, Hendrix S, Dickson SP, Knowlton N, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson TD, Jackson C, Quinn C, Rothstein JD, Kasarskis EJ, Katz J, Jenkins L, Ladha SS, Miller TM, Scelsa SN, Vu TH, Fournier C, Johnson KM, Swenson A, Goyal N, Pattee GL, Babu S, Chase M, Dagostino D, Hall M, Kittle G, Eydinov M, Ostrow J, Pothier L, Randall R, Shefner JM, Sherman AV, Tustison E, Vigneswaran P, Yu H, Cohen J, Klee J, Tanzi R, Gilbert W, Yeramian P, Cudkowicz M. Paganoni S, et al. Among authors: quinn c. J Neurol Neurosurg Psychiatry. 2022 May 16;93(8):871-5. doi: 10.1136/jnnp-2022-329024. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35577511 Free PMC article.
Myotonic Disorders and Channelopathies.
Quinn C, Salajegheh MK. Quinn C, et al. Semin Neurol. 2015 Aug;35(4):360-8. doi: 10.1055/s-0035-1558979. Epub 2015 Oct 6. Semin Neurol. 2015. PMID: 26502760 Review.
Elevated Plasma Phosphorylated Tau 181 in Amyotrophic Lateral Sclerosis.
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. Cousins KAQ, et al. Among authors: quinn c. Ann Neurol. 2022 Nov;92(5):807-818. doi: 10.1002/ana.26462. Epub 2022 Aug 17. Ann Neurol. 2022. PMID: 35877814 Free PMC article.
A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression.
Weiss MD, Macklin EA, Simmons Z, Knox AS, Greenblatt DJ, Atassi N, Graves M, Parziale N, Salameh JS, Quinn C, Brown RH Jr, Distad JB, Trivedi J, Shefner JM, Barohn RJ, Pestronk A, Swenson A, Cudkowicz ME; Mexiletine ALS Study Group. Weiss MD, et al. Among authors: quinn c. Neurology. 2016 Apr 19;86(16):1474-81. doi: 10.1212/WNL.0000000000002507. Epub 2016 Feb 24. Neurology. 2016. PMID: 26911633 Free PMC article. Clinical Trial.
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
Dratch L, Azage M, Baldwin A, Johnson K, Paul RA, Bardakjian TM, Michon SC, Amado DA, Baer M, Deik AF, Elman LB, Gonzalez-Alegre P, Guo MH, Hamedani AG, Irwin DJ, Lasker A, Orthmann-Murphy J, Quinn C, Tropea TF, Scherer SS, Ellis CA. Dratch L, et al. Among authors: quinn c. J Neurol. 2024 Feb;271(2):733-747. doi: 10.1007/s00415-023-12058-6. Epub 2023 Oct 27. J Neurol. 2024. PMID: 37891417 Review.
1,584 results