Results 181 to 188 of about 6,668 (188)

Skyclarys™ - erste Therapie für FRDA

MMW - Fortschritte der Medizin
openaire   +1 more source

Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population

Journal of the Neurological Sciences, 2015
Junsheng Zeng, Junling Wang, Miao He
exaly  

Investigating the role of sphingolipid metabolising enzymes in the pathogenesis of Friedreich’s Ataxia (FRDA)

This thesis was submitted for the award of Doctor of Philosophy and was awarded by Brunel University ...
openaire   +1 more source

A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models

Frontiers in Pharmacology
Nathan Warren, David R Lynch, Dong Yi Na   +2 more
exaly  

Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

Human Genetics, 1998
C Zühlke, F Laccone, Mireille Cossée   +2 more
exaly  

Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients

Journal of the Neurological Sciences, 2013
I. Mudila, F. Mohammed, A. Srivastava
openaire   +1 more source

A Multicentre Prospective Longitudinal Study of Novel Imaging Biomarkers in FRDA

Gilbert Thomas-Black, Daniel R. Altmann, Harry Crook, Nita Solanky, Ferran Prados, Marco Battiston, Francesco Grussu, Marios Yiannakas, Baris Kanber, Jon Brett, Susan M. Downes, Marni Moran, Claudia A.M. Gandini Wheeler-Kingshott, Andrea Nemeth, Richard Festenstein, Fion Bremner, Paola Giunti   +16 more
openaire   +1 more source

Small-pool PCR analysis of premutation alleles at the FRDA ( frataxin) locus.

2003
R Sharma, M Gomez, S Shah, M Delatyki, L Pianese, A MONTICELLI, B Keats, S I Bidichandani   +7 more
openaire   +2 more sources