Results 71 to 80 of about 3,578 (140)

Friedreich's Ataxia – A Clinical Diagnosis [PDF]

Journal of Krishna Institute of Medical Sciences University, 2015
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene.
Md. Fekarul Islam , Devdeep Mukherjee, Ritabrata Kundu , Joydeep Das   +3 more
doaj  

Friedreich’s Ataxia-A Case Report

Journal of Rawalpindi Medical College, 2018
Friedrich’s ataxia (FA) is an autosomal recessive disorder. It is the most common cause of inherited ataxia. It affects approximately 1-2 persons per 100,000 population.[i] It occurs due to a mutation that results in the homozygous expansion of Guanosine
Tahreem Muntaha, Saman Saleem, Sana Qurban, Mawra Noor   +3 more
doaj  

Author Correction: HMGB2-induced calreticulin translocation required for immunogenic cell death and ferroptosis of cancer cells are controlled by the nuclear exporter XPO1

Communications Biology
Jingqi Fan, Kevin P. Gillespie, Clementina Mesaros, Ian A. Blair   +3 more
doaj   +1 more source

Visual Pathways Involvement in Friedreich's Ataxia Patients Without Macular Impairment. [PDF]

J Clin Med
Parisi V, Barbano L, Di Renzo A, Dell'Aquila C, D'Andrea M, Castelluzzo AM, Colacino G, Gioiosa V, Coppola G, Casali C, Ziccardi L.   +10 more
europepmc   +1 more source

Recent developments in Friedreich's ataxia: a state-of-the-art review. [PDF]

Brain Commun
Chapman LR, Mortiboys H, Shaw PJ.
europepmc   +1 more source

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings. [PDF]

Ann Pediatr Cardiol
Gunsaulus ME, Krishnamurthy R, Alvarado C, Nandi D, Cripe LH, Waldrop MA, Hayes EA.   +6 more
europepmc   +1 more source

Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow. [PDF]

J Neuromuscul Dis
Smith BK, Coker MA, Liberati C, Meyer BP, Norman S, Ehrbar J, Leon-Astudillo C, Subramony S, Corti M.   +8 more
europepmc   +1 more source

Evolution of Friedreich's Ataxia Management Across Established and Emerging Therapies-Systematic Review and Meta-Analysis. [PDF]

J Clin Med
Garah B, Aljabri H, Aljohani A, Alnuzha E, Maihoub A, Almuzaini R, Aljohani L, Alshamani L, Alluqmani M.   +8 more
europepmc   +1 more source

Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia. [PDF]

Cell Chem Biol
Chandra S, Kwak CS, Du Z, Barisano G, Nguyen KT, Vinogradov V, Wang X.   +6 more
europepmc   +1 more source

Modeling Friedreich's ataxia with Bergmann glia-enriched human cerebellar organoids. [PDF]

Commun Biol
Ryu S, Inman J, Hong H, Jovanovic VM, Chen Q, Gedik Y, Jethmalani Y, Hur I, Harouni M, Voss T, Lack J, Collins J, Ormanoglu P, Simeonov A, Tristan CA, Singeç I.   +15 more
europepmc   +1 more source