Publications

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Displaying 1 through 25 of 25 publications.

Mansfield C, Boeri M, Coulter J, Baranowski E, Sparks S, An Haack K, Hamed A. The value of knowing: preferences for genetic testing to diagnose rare muscle diseases. Orphanet J Rare Dis. 2024 Apr 22;19(1):173. doi: 10.1186/s13023-024-03160-7

Yee KS, Alexanderian D, Martin S, Olayinka-Amao B, Whiteman DAH. Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment. Orphanet J Rare Dis. 2024 Apr 12;19(1):148. doi: 10.1186/s13023-024-03147-4

Yee KS, Lewis S, Evans E, Romano (DeMuro) C, Alexanderian D. Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II. Orphanet J Rare Dis. 2024 Mar 10;19(1):100. doi: 10.1186/s13023-024-03034-y

Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG. A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. Orphanet J Rare Dis. 2023 Nov 2;18(1):343. doi: 10.1186/s13023-023-02957-2

Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4

Kuhnen P, Wabitsch M, von Schnurbein J, Chirila C, Mallya UG, Callahan P, Gnanasakthy A, Poitou C, Krabusch PM, Stewart M, Clement K. Quality of life outcomes in two phase 3 trials of setmelanotide in patients with obesity due to LEPR or POMC deficiency. Orphanet J Rare Dis. 2022 Feb 5;17(1):38. doi: 10.1186/s13023-022-02186-z

Soler MJ, Ribera A, Marsal JR, Mendez AB, Andres M, Azancot MA, Oristrell G, Mendez-Boo L, Cohen J, Barrabes JA, Ferreira-Gonzalez I, Vall d’Hebron COVID-19 Working Group. Association of renin-angiotensin system blockers with COVID-19 diagnosis and prognosis in patients with hypertension: a population-based study. Clin Kidney J. 2021 Sep 3;15(1):79-94. doi: 10.1093/ckj/sfab161

Foreman PK, Margulis AV, Alexander K, Shediac R, Calingaert B, Harding A, Pladevall-Vila M, Landis S. Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis. Orphanet J Rare Dis. 2021 Jun 3;16(1):253. doi: 10.1186/s13023-021-01874-6

Noel E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, Genevaz D, Bekri S, Hagege A, Dupuis-Simeon F, Derrien Ansquer V, Germain DP, Lidove O. Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. Orphanet J Rare Dis. 2019 Dec 4;14(1):284. doi: 10.1186/s13023-019-1254-7

Paquin RS, Fischer R, Mansfield C, Mange B, Beaverson K, Ganot A, Martin AS, Morris C, Rensch C, Ricotti V, Russo LJ, Sadosky A, Smith EC, Peay H. Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best–worst scaling experiment in caregivers and adult patients. Orphanet J Rare Dis. 2019 May 9;14(1):102. doi: 10.1186/s13023-019-1069-6

Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers. Orphanet J Rare Dis. 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2

Wheeler AC, Sacco P, Cabo R. Unmet clinical needs and burden in Angelman syndrome: a review of the literature. Orphanet J Rare Dis. 2017 Oct 16;12(1):164. doi: 10.1186/s13023-017-0716-z

Luciano JV, D’Amico F, Feliu-Soler A, McCracken LM, Aguado J, Penarrubia-Maria MT, Knapp M, Serrano-Blanco A, Garcia-Campayo J. Cost-utility of group acceptance and commitment therapy for fibromyalgia versus recommended drugs: an economic analysis alongside a 6-month randomized controlled trial conducted in Spain (EFFIGACT Study). J Pain. 2017 Jul;18(7):868-80. doi: 10.1016/j.jpain.2017.03.001

Rak EC, Hooper SR, Belsante MJ, Burnett O, Layton B, Tauer D, Mantoo B, DeWalt D, Ferris ME. Caregiver word reading literacy and health outcomes among children treated in a pediatric nephrology practice. Clin Kidney J. 2016 Jun;9(3):510-5. doi: 10.1093/ckj/sfw015

Auzinger G, Playford GE, Graham CN, Knox HN, Weinstein D, Kantecki M, Schlamm H, Charbonneau C. Cost-effectiveness analysis of anidulafungin for the treatment of candidaemia and other forms of invasive candidiasis. BMC Infect Dis. 2015 Oct 26;15:463. doi: 10.1186/s12879-015-1143-1

Earnshaw SR, McDade CL, Zanotti G, Farkouh RA, Strutton D. Cost-effectiveness of 2 + 1 dosing of 13-valent and 10-valent pneumococcal conjugate vaccines in Canada. BMC Infect Dis. 2012 Apr 1;12:101.

Colosia AD, Masaquel A, Hall CB, Barrett AM, Mahadevia PJ, Yogev R. Residential crowding and severe respiratory syncytial virus disease among infants and young children: a systematic literature review. BMC Infect Dis. 2012 Apr 1;12:95.

Slade GD, Bair E, By K, Mulkey F, Baraian C, Rothwell R, Reynolds ME, Miller V, Gonzalez Y, Gordon S, Ribeiro-Dasilva M, Lim PF, Greenspan JD, Dubner R, Fillingim RB, Diatchenko L, Maixner W, Dampier D, Knott C, Ohrbach R. Study methods, recruitment, sociodemographic findings, and demographic representativeness in the OPPERA study. J Pain. 2011 Nov;12(11 Suppl):T12-26.

Marsal JR, Cruz I, Teixido C, Diez O, Martinez M, Galindo G, Real J, Schoenenberger JA, Pera H. Efficacy and tolerance of the topical application of potassium hydroxide (10% and 15%) in the treatment of molluscum contagiosum: randomized clinical trial: research protocol. BMC Infect Dis. 2011 Oct 19;11:278. doi: 10.1186/1471-2334-11-278

Johannes CB, Le TK, Zhou X, Johnston JA, Dworkin RH. The prevalence of chronic pain in United States adults: results of an internet-based survey. J Pain. 2010 Nov 1;11(11):1230-9.

Arnold LM, Russell IJ, Diri EW, Duan WR, Young JP, Sharma U, Martin SA, Barrett JA, Haig G. A 14-week, randomized, double-blinded, placebo-controlled monotherapy trial of pregabalin in patients with fibromyalgia. J Pain. 2008 Sep;9(9):792-805.

Crofford LJ, Mease PJ, Simpson SL, Young JP, Martin SA, Haig GM, Sharma U. Fibromyalgia relapse evaluation and efficacy for durability of meaningful relief (FREEDOM): a 6-month, double-blind, placebo-controlled trial with pregabalin. J Pain. 2008 Jun;136(3):419-31.

Evans C, Katz N, Simon L, Bombardier C, West C, Robbins J, Copley-Merriman K, Coombs J. Development and preliminary validation of a responder index for patients with chronic low back pain. J Pain. 2006 Apr;7(4 (Supplement)):S84. doi: 10.1016/j.jpain.2006.01.341

Jensen MP, Martin SA, Cheung R. The Meaning of pain relief in a clinical trial. J Pain. 2005 Jun 1;6:400-6.

Bushel PR, Hamadeh H, Bennett L, Sieber S, Martin K, Nuwaysir EF, Johnson K, Reynolds K, Paules RS, Afshari CA. MAPS: a microarray project system for gene expression experiment information and data validation. Bioinformatics. 2001 Jun 1;17(6):564-5.