Results 101 to 110 of about 7,170 (177)

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  

Management of the ataxias : towards best clinical practice [PDF]

, 2016
This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia. The progressive ataxias are rare neurological conditions, and are often poorly understood by healthcare ...
Bates, Claire, Baxter, Peter, Bonney, Harriet, Bremner, Fion, Bunn, Lisa, Carrillo Perez-Tome, Maria, Chung, Mark, Cipolotti, Lisa, de Silva, Rajith, Duberley, Kate, Ealing, John, Emmanuel, Anton, Giunti, Paola, Greenfield, Julie, Hadjivassilliou, Marios, Harshavardhana, N.S., Hayward, Kate, Hendriksz, Christian, Hersheson, Joshua, Horvath, Rita, Hurford, Joanne, Jaffer, Fatima, Kilbride, Cherry, Lowit, Anja, Marsden, Jonathan, Nemeth, Andrea, Noordeen, M H Hilali, Panicker, Jalesh, Pantazis, Antonios, Parkinson, Michael H, Redmond, Liz, Uus, Kai   +31 more
core   +1 more source

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich\u27s ataxia. [PDF]

, 2013
BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Belmonte, Matthew, Deutsch, Eric C, Egan, Elizabeth, Lynch, David R, Plasterer, Heather L, Rusche, James R   +5 more
core   +1 more source

Pharmacological treatments for Friedreich ataxia [PDF]

, 2016
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties.
Brassington, R, Fahey, M, Kearney, M, Orrell, RW, Pandolfo, M   +4 more
core  

Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich [PDF]

, 2018
Introducción: la Ataxia de Friedreich es una enfermedad genética de herencia autosómica recesiva, caracterizada por la dificultad en el movimiento. La causa es la mutación en el gen que codifica para una proteína mitocondrial denominada frataxina (Fxn ...
Balbi, Noelia, Faraj, Santiago Enrique, Ferrari, Alejandro Andrés, Pikielny, Ralph, Santos, Javier, Varela, Carolina   +5 more
core  

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  

Neuroinflammation in Friedreich's Ataxia. [PDF]

Int J Mol Sci, 2022
Apolloni S, Milani M, D'Ambrosi N.
europepmc   +1 more source

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

Oxidative Stress and Antioxidant Therapies in Friedreich's Ataxia. [PDF]

Cells
Jiménez-Jiménez FJ, Alonso-Navarro H, García-Martín E, Cárcamo-Fonfría A, Martín-Gómez MA, Agúndez JAG.   +5 more
europepmc   +1 more source

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. [PDF]

Nat Commun
Pernaci C, Johnson A, Gillette S, Warden AS, McCormick C, Weiser-Novak S, Ramirez G, Broersma EH, Mishra P, Sivakumar A, Cherqui S, Coufal NG.   +11 more
europepmc   +1 more source