Publications

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Displaying 1 through 30 of 30 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

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

Cherian SV, Li C, Roche B, Reyes SA, Karanth S, Lal AP, Aisenberg GM, Estrada-Y-Martin RM. Predictive factors for success of awake proning in hypoxemic respiratory failure secondary to COVID-19: a retrospective cohort study. Respir Med. 2021 May;181:106379. doi: 10.1016/j.rmed.2021.106379

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

Rebordosa C, Aguado J, Plana E, Thomas S, Frances A, Lei A, Garcia-Gil E, Nuevo J, Perez-Gutthann S, Castellsague J. Use of aclidinium did not increase the risk of death in a noninterventional cohort study in the Clinical Practice Research Datalink (CPRD), United Kingdom. Respir Med. 2019 Jun;152:37-43. doi: 10.1016/j.rmed.2019.04.018

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

Carsin AE, Fuertes E, Schaffner E, Jarvis D, Anto JM, Heinrich J, Bellisario V, Svanes C, Keidel D, Imboden M, Weyler J, Nowak D, Martinez-Moratalla J, Gullon JA, Sanchez Ramos JL, Caviezel S, Beckmeyer-Borowko A, Raherison C, Pin I, Demoly P, Cerveri I, Accordini S, Gislason T, Toren K, Forsberg B, Janson C, Jogi R, Emtner M, Gomez Real F, Raza W, Leynaert B, Pascual S, Guerra S, Dharmage SC, Probst-Hensch N, Garcia-Aymerich J. Restrictive spirometry pattern is associated with low physical activity levels. A population based international study. Respir Med. 2019 Jan;146:116-23. doi: 10.1016/j.rmed.2018.11.017

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

Prazma CM, Gern JE, Weinstein SF, Prillaman BA, Stempel DA. The association between seasonal asthma exacerbations and viral respiratory infections in a pediatric population receiving inhaled corticosteroid therapy with or without long-acting beta-adrenoceptor agonist: a randomized study. Respir Med. 2015 Oct;109(10):1280-6. doi: 10.1016/j.rmed.2015.06.010

Rottenkolber M, Voogd E, van Dijk L, Primatesta P, Becker C, de Groot MC, Plana E, Alvarez Y, Durand J, Slattery J, Afonso A, Requena G, Huerta C, Alvarez A, de Abajo F, Tauscher M, Hasford J, Fischer R, Reynolds R, Schmiedl S. Seasonal changes in prescribing of long-acting beta-2-agonists-containing drugs. Respir Med. 2015 Jul;109(7):828-37. doi: 10.1016/j.rmed.2015.01.010

Rottenkolber M, Rottenkolber D, Fischer R, Ibáñez L, Fortuny J, Ballarin E, Sabaté M, Ferrer P, Thürmann P, Hasford J, Schmiedl S. Inhaled beta-2-agonists/muscarinic antagonists and acute myocardial infarction in COPD patients. Respir Med. 2014 Aug;108(8):1075-90.

Guerra S, Halonen M, Sherrill DL, Venker C, Spangenberg A, Carsin AE, Tares L, Lavi I, Barreiro E, Martinez-Moratalla J, Urrutia I, Sunyer J, Anto JM, Martinez FD. The relation of circulating YKL-40 to levels and decline of lung function in adult life. Respir Med. 2013 Dec;107(12):1923-30. doi: 10.1016/j.rmed.2013.07.013

Macdougall JE, Johnston JM, Lavins BJ, Nelson LM, Williams VS, Carson RT, Shiff SJ, Shi K, Kurtz CB, Baird MJ, Currie MG, Lembo AJ. An evaluation of the FDA Responder Endpoint for IBS-C clinical trials: analysis of data from linaclotide Phase 3 clinical trials. Neurogastroenterol Motil. 2013 Jun;25(6):481-6. doi: 10.1111/nmo.12089

Nelson LM, Williams VSL, Fehnel SE, Tourkodimitris S, Baird MJ, Carson RT, Johnston JM. Psychometric evaluation of patient-reported outcome measures for assessing chronic constipation symptom severity and change: results from phase 2b and phase 3 trials of linaclotide. Presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. [abstract] Neurogastroenterol Motil. 2012 Sep 6; 24(Suppl. s2):180.

Spiegel BMR, Locke G, Kurtz CM, Williams VSL, Nelson LM, Carson RT, Currie MG, Schneier HA, Johnston JM. Clinically meaningful change benchmarks for IBS-C symptoms developed using data from two phase 3 trials of linaclotide. Presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. Bologna, Italy. [abstract] Neurogastroenterol Motil. 2012 Sep; 24(s2):35.

Nelson LM, Williams VSL, Carson RT, Baird MJ, Fehnel SE, Johnston JM. Factor analyses of patient-reported outcome measures in Irritable Bowel Syndrome with Constipation (IBSC): results from two randomized, double-blind, placebo-controlled phase 3 trials of linaclotide. Poster presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. Bologna, Italy. [abstract] Neurogastroenterol Motil. 2012 Sep 1; 24(Suppl. 2):106. doi: 10.1111/j.1365-2982.2012.01997.x

Carson RT, Nelson LM, Williams VSL, Fehnel SE, Tourkodimitris S, Baird MJ, Johnston JM. Psychometric evaluation of patient-reported outcome measures for assessing IBS-C symptom severity and change: results from two randomized, double-blind, placebo-controlled phase 3 trials of linaclotide. Poster presented at the Joint International Neurogastroenterology and Motility Meeting; September 2012. [abstract] Neurogastroenterol Motil. 2012 Sep 1; 24(Suppl. 2):179.

Meads DM, McKenna SP, Doward LC, Pokrzywinski R, Revicki D, Hunter C, Glendenning GA. Development and validation of the Asthma Life Impact Scale (ALIS). Respir Med. 2010;104(5):633-43.

Earnshaw SR, Wilson MR, Dalal AA, Chambers MG, Jhingran P, Stanford R, Mapel DW. Cost-effectiveness of fluticasone propionate/salmeterol (500/50 microg) in the treatment of COPD. Respir Med. 2009 Jan 1;103(1):12-21.

Mangel AW, Fehnel SE. Design of treatment trials in irritable bowel syndrome: opioid agonists and atypical benzodiazepine antagonists. Neurogastroenterol Motil. 2008 Oct 1;20(10):1086-93.

Koenig SM, Murray JJ, Wolfe J, Andersen L, Yancey S, Prillaman B, Stauffer J, Dorinsky P. Does measuring BHR add to guideline derived clinical measures in determining treatment for patients with persistent asthma? Respir Med. 2008 May;102(5):665-73. doi: 10.1016/j.rmed.2007.12.023

Finkelstein EA, Kosa KM. Use of incentives to motivate healthy behaviors among employees. Gender issues. 2003 Jun;21(3):50-9. doi: 10.1007/s12147-003-0005-0

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.

Castellsague J, Garcia-Rodriguez LA, Perez-Gutthann S, Agostinis L, Cattaruzi C, Troncon MG. Characteristics of users of inhaled long-acting beta 2-agonists in a southern European population. Respir Med. 1999 Oct 1;93(10):709-14.