Results 161 to 170 of about 6,264 (195)

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
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ATAXIA-TELANGIECTASIA

The Turkish Journal of Pediatrics, 1964
Y Renda
doaj  

Harshly Oxidized Activated Charcoal Enhances Protein Persulfidation with Implications for Neurodegeneration as Exemplified by Friedreich's Ataxia. [PDF]

Nanomaterials (Basel)
Vo ATT, Khan U, Liopo AV, Mouli K, Olson KR, McHugh EA, Tour JM, Pooparayil Manoj M, Derry PJ, Kent TA.   +9 more
europepmc   +1 more source

Friedreich's ataxia.

Paediatrica Indonesiana, 1980
M R, Soerjadi, A H, Sutanto, B, Saing, S, Halim, H, Siregar   +4 more
openaire   +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

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

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

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Friedreich's Ataxia

Archives of Otolaryngology - Head and Neck Surgery, 1981
To the Editor .—In the recent article entitled "Auditory Function in Friedreich's Ataxia: Electrophysiologic Study of a Family" in theArchives(1981;107:254-256), Shanon and co-workers reported electrophysiologic abnormalities in a family suffering from Friedreich's ataxia.
S, Satya-Murti, A T, Cacace
openaire   +2 more sources

Friedreich’s ataxia

Pediatric Neurology, 2003
Friedreich's ataxia, the most common hereditary ataxia, is caused by expansion of a GAA triplet located within the first intron of the frataxin gene on chromosome 9q13. There is a clear correlation between size of the expanded repeat and severity of the phenotype. Frataxin is a mitochondrial protein that plays a role in iron homeostasis.
Gulay, Alper, Vinodh, Narayanan
openaire   +2 more sources