Results 141 to 150 of about 7,170 (177)

Very late-onset Friedreich ataxia: later than life expectancy? [PDF]

, 2018
Alvarez, Vincent, Arnold, Pierre, Kuntzer, Thierry   +2 more
core  

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. [PDF]

Am J Med Genet A
Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S.   +11 more
europepmc   +1 more source

Brain microvascular endothelial cells differentiated from a Friedreich's Ataxia patient iPSC are deficient in tight junction protein expression and paracellularly permeable. [PDF]

Front Mol Neurosci
Smith FM, Kosman DJ.
europepmc   +1 more source

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice. [PDF]

Nat Genet
Matuszek Z, Arbab M, Kesavan M, Hsu A, Roy JCL, Zhao J, Yu T, Weisburd B, Newby GA, Doherty NJ, Wu M, Shibata S, Cristian A, Tao YA, Fearnley LG, Bahlo M, Rehm HL, Xie J, Gao G, Mouro Pinto R, Liu DR.   +20 more
europepmc   +1 more source

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich's Ataxia. [PDF]

Commun Med (Lond)
Mishra RK, Nunes AS, Enriquez A, Profeta VR, Wells M, Lynch DR, Vaziri A.   +6 more
europepmc   +1 more source

NAD+ precursors prolong survival and improve cardiac phenotypes in a mouse model of Friedreich's Ataxia. [PDF]

JCI Insight
Perry CE, Halawani SM, Mukherjee S, Ngaba LV, Lieu M, Lee WD, Davis JG, Adzika GK, Bebenek AN, Bazianos DD, Chen B, Mercado-Ayon E, Flatley LP, Suryawanshi AP, Ho I, Rabinowitz JD, Serai SD, Biko DM, Tamaroff J, DeDio A, Wade K, Lin KY, Livingston DJ, McCormack SE, Lynch DR, Baur JA.   +25 more
europepmc   +1 more source

Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis. [PDF]

Cerebellum
Gavriilaki M, Chatzikyriakou E, Moschou M, Arnaoutoglou M, Sakellari I, Kimiskidis VK.   +5 more
europepmc   +1 more source

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia. [PDF]

Epigenetics Chromatin
Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D.   +4 more
europepmc   +1 more source

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia. [PDF]

Int J Mol Sci
Da Conceição LMA, Cabral LM, Pereira GRC, De Mesquita JF.   +3 more
europepmc   +1 more source

Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman. [PDF]

Indian J Otolaryngol Head Neck Surg
Fernández AG.
europepmc   +1 more source