O'Neill C - Search Results

1

Sanfilippo syndrome: consensus guidelines for clinical care.

Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group. Muschol N, et al. Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. Orphanet J Rare Dis. 2022. PMID: 36303195 Free PMC article. Review.

2

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.

Shapiro E, Lourenço CM, Mungan NO, Muschol N, O'Neill C, Vijayaraghavan S. Shapiro E, et al. Orphanet J Rare Dis. 2019 Jul 8;14(1):168. doi: 10.1186/s13023-019-1150-1. Orphanet J Rare Dis. 2019. PMID: 31287005 Free PMC article.

3

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.

Porter KA, O'Neill C, Drake E, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Porter KA, et al. Neurol Ther. 2021 Jun;10(1):197-212. doi: 10.1007/s40120-020-00226-z. Epub 2020 Dec 2. Neurol Ther. 2021. PMID: 33263924 Free PMC article.

4

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S. Wijburg FA, et al. Mol Genet Metab. 2022 Feb;135(2):133-142. doi: 10.1016/j.ymgme.2021.12.002. Epub 2021 Dec 10. Mol Genet Metab. 2022. PMID: 34991944 Free article.

5

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.

Lanar S, Parker S, O'Neill C, Marrel A, Arnould B, Héron B, Muschol N, Wijburg FA, Chakrapani A, Olivier S, Aiach K. Lanar S, et al. Orphanet J Rare Dis. 2022 Feb 22;17(1):75. doi: 10.1186/s13023-022-02208-w. Orphanet J Rare Dis. 2022. PMID: 35193633 Free PMC article.

6

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome.

Porter KA, O'Neill C, Drake E, Andrews SM, Delaney K, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Porter KA, et al. J Patient Rep Outcomes. 2022 Apr 25;6(1):40. doi: 10.1186/s41687-022-00447-w. J Patient Rep Outcomes. 2022. PMID: 35467223 Free PMC article.

7

Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.

Deltuvaite-Thomas V, De Backer M, Parker S, Deneux M, Polgreen LE, O'Neill C, Salvaggio S, Buyse M. Deltuvaite-Thomas V, et al. Orphanet J Rare Dis. 2023 Oct 12;18(1):321. doi: 10.1186/s13023-023-02943-8. Orphanet J Rare Dis. 2023. PMID: 37828533 Free PMC article.

8

Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses.

Eisengart JB, Esler AN, Ellinwood NM, Hudock RL, King KE, Klein TL, Lee C, Morton J, Stephens K, Ziegler R, O'Neill C. Eisengart JB, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):68-76. doi: 10.1016/j.ymgme.2021.06.012. Epub 2021 Jul 6. Mol Genet Metab. 2021. PMID: 34247933 Free PMC article.

9

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.

Bloomfield M, Lautarescu A, Heraty S, Douglas S, Violland P, Plas R, Ghosh A, Van den Bosch K, Eaton E, Absoud M, Battini R, Blázquez Hinojosa A, Bolshakova N, Bölte S, Bonanni P, Borg J, Calderoni S, Calvo Escalona R, Castelo-Branco M, Castro-Fornieles J, Caro P, Cliquet F, Danieli A, Delorme R, Elia M, Hempel M, Leblond CS, Madeira N, McAlonan G, Milone R, Molloy CJ, Mouga S, Montiel V, Pina Rodrigues A, Schaaf CP, Serrano M, Tammimies K, Tye C, Vigevano F, Oliveira G, Mazzone B, O'Neill C, Pender J, Romero V, Tillmann J, Oakley B, Murphy DGM, Gallagher L, Bourgeron T, Chatham C, Charman T. Bloomfield M, et al. Among authors: o neill c. BMJ Open. 2024 Jun 4;14(6):e080746. doi: 10.1136/bmjopen-2023-080746. BMJ Open. 2024. PMID: 38834317 Free article.

10

Evaluating the risk of return to the operating room across all elective orthopaedic procedures.

Kiritsis NR, Harris MS, Reiter CR, Ernst BS, Satalich JR, Wyatt PB, O'Neill CN, Vap AR. Kiritsis NR, et al. Among authors: o neill cn. J Orthop Surg Res. 2024 Jun 2;19(1):328. doi: 10.1186/s13018-024-04814-9. J Orthop Surg Res. 2024. PMID: 38825677 Free PMC article.

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