Results 101 to 110 of about 4,301 (184)

Calcitriol in Friedreich Ataxia

Movement Disorders
Shana E. McCormack, David R. Weber, David R. Lynch   +2 more
openaire   +2 more sources

Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia. [PDF]

J Patient Rep Outcomes
Lawson R, Natarajan S, Correll JR, Clark A, Martin ML, Bushnell DM, Setyawan J.   +6 more
europepmc   +1 more source

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia. [PDF]

Hum Mol Genet
Devore MC, Lam C, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +5 more
europepmc   +1 more source

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia. [PDF]

BMJ Neurol Open
Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR.   +20 more
europepmc   +1 more source

Neuropathology of Friedreich ataxia and its links to metabolic pathways. [PDF]

Neurodegener Dis Manag
Mercado-Ayón E, Lazaropoulos MP, Mercado-Ayón Y, Lynch DR.   +3 more
europepmc   +1 more source

AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich Ataxia: A Nonrandomized Clinical Trial.

JAMA Cardiol
Crystal RG, Weinsaft JW, Kaminsky SM, Caragiulo A, Savage N, Patel A, Gavrilova RH, Perlman SL, Galbraith M, Kahlon U, Krishnan U, Kaner RJ, Sanders A, Vo M, Sarva H, Yoo A, Sondhi D, De BP, Mezey JG, Aubert G, Khan A, Selvan N, Bhalla N, Adler E, Zesiewicz T.   +24 more
europepmc   +1 more source

Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. [PDF]

BMJ Neurol Open
Ali A, Cheema WA, Nisar F, Reyaz U, Saad M, Talha M, Sarfraz S, Butt A, Shamoon M, Abdullah A, Shabbir MA, Talha M, Azam H, Abdullah M, Anwaar A.   +14 more
europepmc   +1 more source

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. [PDF]

Sci Rep
Karamazovova S, Laczó M, Matuskova V, Svecova N, Stovickova L, Blichova Z, Paulasova Schwabova J, Kuzmiak M, Laczó J, Vyhnalek M.   +9 more
europepmc   +1 more source