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

Bregantini D, Schmitt LHM, Thijssen JJJ. A Bayesian change-point detection approach to the economic evaluation of risky projects: an application to healthcare technology assessment. J R Stat Soc Ser A Stat Soc. 2024 Apr;187(2):474-6. doi: 10.1093/jrsssa/qnad129

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

Mouchtouri VA, Simou E, Soteriades S, Rousou X, Kontouli KM, Kafetsouli D, Kourentis L, Anagnostopoulos L, Hadjichristodoulou C. Systematic literature review and meta-analysis on preventing and controlling norovirus outbreaks on cruise ships, 1990 to 2020: calling for behaviour change strategies of travellers. Euro Surveill. 2024 Mar 7;29(10). doi: 10.2807/1560-7917.ES.2024.29.10.2300345

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

Gerbasi ME, Goss D, Petrillo J, Nejati M, Lewis S. Patient experiences in essential tremor: mapping functional impacts to existing measures using qualitative research. Poster presented at the 2023 International Congress of Parkinson's Disease and Movement Disorders; August 27, 2023. Copenhagen, Denmark. [abstract] Mov Disord. 2023; 38(Suppl 1).

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

Serbin M, Sutphin J, Leach C, Mansfield C, Yonan C, Klepitskaya O, Sheehan M, Donnelly A. Evaluating patients' preferences for parkinson's disease treatments. Poster presented at the MDS Virtual Congress 2021; September 17, 2021. [abstract] Mov Disord. 2021 Sep; 36(S1).

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

Serbin M, Odak S, Macahilig C, Joshi N, Shah A, Ng X, Olson K, Liang G, Klepitskaya O, Yonan C. Motor fluctuations in a real‐world sample of patients with parkinson's disease. Poster presented at the MDS Virtual Congress 2020; September 2020. [abstract] Mov Disord. 2020 Sep 11; 35(Suppl 1):S142. doi: 10.1002/mds.28268

Serbin M, Odak S, Macahilig C, Joshi N, Shah A, Ng X, Olson K, Liang G, Klepitskaya O, Yonan C. Real-world healthcare resource utilization in patients with parkinson's disease and motor fluctuations. Poster presented at the 2020 MDS Virtual Congress; September 2020. [abstract] Mov Disord. 2020 Sep; 35(Suppl 1):S142.

Thach A, Sutphin J, Coulter J, Mansfield C. A discrete-choice experiment evaluating preferences for on-demand treatments for patients with Parkinson's Disease and “OFF” episodes. Poster presented at the MDS Virtual Congress 2020; September 11, 2020. [abstract] Mov Disord. 2020 Sep; 35(S1):S427. doi: 10.1002/mds.28268

Thach A, Coulter J, Leach C, Sutphin J, Mansfield C. On-demand treatment preferences of patients with Parkinson's Disease and “OFF” episodes: heterogeneity across patient subgroups. Poster presented at the MDS Virtual Congress 2020; September 11, 2020. [abstract] Mov Disord. 2020 Sep; 35(S1):S427-8. doi: 10.1002/mds.28268

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

Parekh D, Dancer RCA, Scott A, D'Souza VK, Howells PA, Mahida RY, Tang JCY, Cooper MS, Fraser WD, Tan L, Gao F, Martineau AR, Tucker O, Perkins GD, Thickett DR. Vitamin D to prevent lung injury following esophagectomy-a randomized, placebo-controlled trial. Crit Care Med. 2018 Dec;46(12):e1128-35. doi: 10.1097/CCM.0000000000003405

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

Parekh D, Patel JM, Scott A, Lax S, Dancer RC, D'Souza V, Greenwood H, Fraser WD, Gao F, Sapey E, Perkins GD, Thickett DR. Vitamin D deficiency in human and murine sepsis. Crit Care Med. 2017 Feb;45(2):282-9. doi: 10.1097/CCM.0000000000002095

Rothman KJ, Hatch EE, Poole C, Wise LA, Gallacher JEJ, Lash TL, Mikkelsen EM, Sorensen HT. Comment on "Perils and Potentials of Self-Selected Entry to Epidemiological Studies and Surveys". J R Stat Soc Ser A Stat Soc. 2016 Feb;179(2):364. doi: 10.1111/rssa.12136

Davis KL, Edin HM, Allen JK. Prevalence and cost of medication nonadherence in Parkinson's disease: evidence from administrative claims data. Mov Disord. 2010 Mar 15;25(4):474-80.

Edin HM, DiBenedetti D, Hill CD. Adherence among patients with Parkinson's Disease taking ropinirole immediate release at least three times daily. Poster presented at the Movement Disorders Society; June 13, 2008. [abstract] Mov Disord. 2008; 23:S344-5.

Hagell P, Whalley D, McKenna SP, Lindvall 0. Health status measurement in Parkinson's disease: validity of the PDQ-39 and Nottingham Health Profile. Mov Disord. 2003 Jul 1;18(7):773-83.