Results 101 to 110 of about 4,355 (175)

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  

Replication stalling at Friedreich’s ataxia (GAA)n repeats in vivo

, 2004
Friedreich’s ataxia (GAA)n repeats of various lengths were cloned into a Saccharymyces cerevisiae plasmid, and their effects on DNA replication were analyzed using two-dimensional electrophoresis of replication intermediates.
Maria M. Krasilnikova, Sergei M. Mirkin
core  

Quantitative investigations of FXN transcription and epigenetic modifications, including histone acetylation and methylation, in FRDA human and mouse tissues

, 2009
This thesis was submitted for the degree of Master of Philosophy and awarded by Brunel University.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and, limb ataxia, cardiomayopathy ...
Trabzuni, Daniah M
core  

Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype.

, 2004
Friedreich’s ataxia, the most common hereditary ataxia among white people, is caused by a trinucleotide GAA expansion in the X25 gene. Friedreich’s ataxia is characterised by a variable phenotype which may also include hypertrophic cardiomyopathy and ...
GIACCHETTI M, DE BIASE I, PIANESE L, MONTICELLI A, DE MICHELE, GIUSEPPE, COCOZZA, SERGIO, TURANO, MIMMO, FILLA, ALESSANDRO   +7 more
core  

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

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

The Role of Estrogen and Estrogen Analogues in Friedreich’s Ataxia Cytoprotection

, 2014
Friedreich’s ataxia (FRDA) is the most common form of inherited ataxia in the world, affecting roughly 1:50,000 people in the United States. It is inherited in an autosomal recessive manner due to a GAA trinucleotide repeat expansion in the first intron ...
Richardson, Timothy E.
core  

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

Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich's ataxia. [PDF]

Mol Cell
Karnay A, Linares-Saldana R, Wang Q, Gardner Z, Liang JA, Santini GT, Haridhasapavalan KK, Nguyen SC, Hugelier S, Shewale B, Kanemaki MT, Napierala JS, Napierala M, Wilson RB, Dubois N, Poleshko A, Kim W, Shah PP, Lakadamyali M, Joyce EF, Jain R.   +20 more
europepmc   +1 more source

Diazoxide for the treatment of Friedreich's ataxia

, 2010
The present invention concerns a pharmaceutical preparation for the treatment of Friedreich’s ataxia and for the treatment or prevention of pathologies related thereto.
PALMIERI L, SANTORO A. UNIVERSITA' DEGLI STUDI DI BARI, PALMIERI F, MAROBBIO, CARLO MARYA   +3 more
core