Results 161 to 167 of about 5,660 (167)

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
Franco Laccone, Michel Koenig, Alfried Kohlschütter   +2 more
exaly  

Tissue atrophy and elevated iron concentration in the extrapyramidal motor system in Friedreich ataxia: the IMAGE-FRDA study

Journal of Neurology, Neurosurgery and Psychiatry, 2016
Elsdon Storey, Louise A Corben, Parnesh Raniga   +2 more
exaly  

To study the genotype - phenotype correlation of Friedreich’s Ataxia (FRDA) patients in Indian population

Parkinsonism & Related Disorders, 2018
I. Ahmad, A. Kumar Srivastava, M. Faruq, V. Padma Srivastava M.   +3 more
openaire   +1 more source

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 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

TARGETING FERREDOXIN 2 (FDX2) IN FRIEDREICH ATAXIA (FRDA)

MEISEL JOSHUA D, MOOTHA VAMSI K, RUVKUN GARY B   +2 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