Presentation and progression of
Friedreich ataxia and implications for physical therapist examination.
Pianese et al., "The
Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13," American Journal of Human Genetics, vol.
* The report provides a snapshot of the global therapeutic landscape of
Friedreich AtaxiaFriedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.
Friedreich ataxia affects one in 30,000 people globally, and Dr.
Citation: "Generation of Induced Pluripotent Stem Cell Lines from
Friedreich Ataxia Patients;" Jun Liu, et at; Stem Cell Reviews and Reports, DOI: 10.1007/sl2015-010-9210-x.
Iron dysregulation in
Friedreich ataxia. Semin Pediatr Neurol 2006;13:166-75.
FRDA =
Friedreich ataxia AD SCA = Autosomal dominant spinocerebellar ataxia ICARS = International Cooperative Ataxia Rating Scale ADLS = Activities of Daily Living Scale DELTA - X = Right/left deviation of COP, DELTA - Y = Front/back deviation of COP, TRAJ = Absolute deviation of COP, TTW - Total traveled way during the whole test
Key words:
Friedreich ataxia, GAA repeats, risk allele.
My sons, jeff and Brian, now 19 and 15, were diagnosed with
Friedreich ataxia at Walter Reed Army Medical Center in 1981.
Geraint Williams, who has
Friedreich ataxia, tackled a 10-mile, 20-obstacle Tough Mudder course to prepare for climbing Kilimanjaro TOUGH MUDDER
Additionally, the transaction includes up to USD 535m in success-based milestones in connection with regulatory approvals on the three most advanced programs and receipt of a priority review voucher, as well as tiered commercial milestones of USD 150m, and 2-6% of annual net sales for
Friedreich ataxia and Angelman syndrome.