Publications

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Displaying 1 through 23 of 23 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

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

Bano X, Bergada P, Bonet-Sola D, Egea A, Foraster M, Freixes M, Ginovart-Panisello GJ, Mallol R, Martin X, Martinez A, Martinez-Suquia C, Orga F, Sevillano X, Alsina-Pages RM. Sons al Balcó, a citizen science approach to map the soundscape of catalonia. Poster presented at the 8th International Electronic Conference on Sensors and Applications; November 1, 2021. Online. [abstract] Engineering proceedings. 2021 Nov 1; 10(1):54. doi: 10.3390/ecsa-8-11619

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

Alsina-Pages RM, Orga F, Mallol R, Freixes M, Bano X, Foraster M. Sons al balcó: soundscape map of the confinement in Catalonia. Poster presented at the 7th International Electronic Conference on Sensors and Applications; November 15, 2020. Online. [abstract] Engineering proceedings. 2020 Nov 14; 2(1):77. doi: 10.3390/ecsa-7-08180

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

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

Price C, Golden B, Harrington M, Konewko R, Wasil E, Herring W. Reducing boarding in a post-anesthesia care unit. Prod Oper Manag. 2011 May 1;20(3):431-41.

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.