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1 . Academic Journal
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
저자
by
Megan M. Shen
;
Christian Rummey
;
David R. Lynch
.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1110-1121 (2024)
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5 . Academic Journal
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study
저자
by
Christian Rummey
;
Susan Perlman
;
Sub. H. Subramony
;
Jennifer Farmer
;
David R. Lynch
.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1290-1300 (2024)
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7 . 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)
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7 . Academic Journal
Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia
저자
by
Layne N. Rodden
;
Kellie McIntyre
;
Medina Keita
;
Mckenzie Wells
;
Courtney Park
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1397-1406 (2023)
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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
Digital endpoints for self‐administered home‐based functional assessment in pediatric Friedreich’s ataxia
저자
by
Arne Mueller
;
Elaine Paterson
;
Avery McIntosh
;
Jens Praestgaard
;
Mary Bylo
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1845-1856 (2021)
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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
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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7 . Academic Journal
Test–retest reliability of the Friedreich’s ataxia rating scale
저자
by
Christian Rummey
;
Theresa A. Zesiewicz
;
Santiago Perez‐Lloret
;
Jennifer M. Farmer
;
Massimo Pandolfo
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 7, Iss 9, Pp 1708-1712 (2020)
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7 . Academic Journal
Predictors of loss of ambulation in Friedreich's ataxia
저자
by
Christian Rummey
;
Jennifer M. Farmer
;
David R. Lynch
.
소스
EClinicalMedicine, Vol 18, Iss , Pp - (2020)
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