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1 . Academic Journal
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
저자
by
David R. Lynch
;
Angie Goldsberry
;
Christian Rummey
;
Jennifer Farmer
;
Sylvia Boesch
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 4-16 (2024)
Open Access (Wiley)
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7 . Academic Journal
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review
저자
by
Oliver Heath
;
Dinusha Pandithan
;
James Pitt
;
Elena Savva
;
Laura Raiti
, et al.
소스
JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)
Open Access (Wiley)
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Scopus
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7 . Academic Journal
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice
저자
by
Ian R. Woodcock
;
George Tachas
;
Nuket Desem
;
Peter J. Houweling
;
Michael Kean
, et al.
소스
PLoS ONE, Vol 19, Iss 1 (2024)
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7 . Academic Journal
Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS
저자
by
Christian Rummey
;
Ian H. Harding
;
Martin B. Delatycki
;
Geneieve Tai
;
Thiago Rezende
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2041-2046 (2022)
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7 . Academic Journal
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases
저자
by
Louise A. Corben
;
Veronica Collins
;
Sarah Milne
;
Jennifer Farmer
;
Ann Musheno
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-25 (2022)
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7 . Academic Journal
Federated Deep Learning for the Diagnosis of Cerebellar Ataxia: Privacy Preservation and Auto-Crafted Feature Extractor
저자
by
Thang Ngo
;
Dinh C. Nguyen
;
Pubudu N. Pathirana
;
Louise A. Corben
;
Martin B. Delatycki
, et al.
소스
IEEE Transactions on Neural Systems and Rehabilitation Engineering, Vol 30, Pp 803-811 (2022)
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7 . Academic Journal
A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia
저자
by
Layne N. Rodden
;
Christian Rummey
;
Yi Na Dong
;
Sarah Lagedrost
;
Sean Regner
, et al.
소스
Frontiers in Molecular Biosciences, Vol 9 (2022)
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7 . Academic Journal
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants
저자
by
Krithika Murali
;
Tanya M. Dwarte
;
Mehrdad Nikfarjam
;
Katherine M. Tucker
;
Rhys B. Vaughan
, et al.
소스
Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-14 (2021)
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Scopus
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7 . Academic Journal
Utility and limitations of Hepascore and transient elastography to detect advanced hepatic fibrosis in HFE hemochromatosis
저자
by
Sim Yee Ong
;
Tiffany Khoo
;
Amanda J. Nicoll
;
Lyle Gurrin
;
Thomas Worland
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
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7 . Academic Journal
Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort
저자
by
Christian Rummey
;
John M. Flynn
;
Louise A. Corben
;
Martin B. Delatycki
;
George Wilmot
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
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