Thursday, March 25, 2021

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants

›
Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishiguro; Brain and Development, Volume 43, Issue 3, 2021, Pages 464-469, ...

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

›
Prof Kathrin Reetz, MD, Imis Dogan, PhD, Prof Ralf-Dieter Hilgers, PhD, Prof Paola Giunti, MD, Michael H Parkinson, MBBS, Caterina Mariotti,...
Tuesday, March 23, 2021

The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

›
Bernice Frempong, Robert B. Wilson, Kimberly Schadt and David R. Lynch; Front. Neurosci., 02 March 2021, doi:10.3389/fnins.2021.653241  A de...
Sunday, March 21, 2021

The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia

›
Sarah C Milne, Seok Hun Kim, Anna Murphy, Jane Larkindale, Jennifer Farmer, Ritchie Malapira, Mary Danoudis, Jessica Shaw, Tyagi Ramakrishna...
Saturday, March 20, 2021

In vivo survival and differentiation of Friedreich ataxia iPSC-derived sensory neurons transplanted in the adult dorsal root ganglia

›
Viventi S, Frausin S, Howden SE, Lim SY, Finol-Urdaneta RK, McArthur JR, Abu-Bonsrah KD, Ng W, Ivanusic J, Thompson L, Dottori M.; Stem Cell...
Friday, March 19, 2021

Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

›
Annemarie E. M. Post, Thomas Klockgether, G. Bernhard Landwehrmeyer, Massimo Pandolfo, Astri Arnesen, Carola Reinhard & Holm Graessner. ...
Thursday, March 18, 2021

Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients (Calcitriol-FA)

›
ClinicalTrials.gov Identifier: NCT04801303.  Recruitment Status : Not yet recruiting, First Posted : March 17, 2021, Last Update Posted ...
Sunday, March 14, 2021

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

›
ural, A., Şimşir, G., Tekgül, Ş., Koçoğlu, C., Akçimen, F., Kartal, E., Şen, N.E., Lahut, S., Ömür, Ö., Saner, N., Gül, T., Bayraktar, E., P...

Early onset ataxia with Marfanoid features a new varient of Friedreich s ataxia

›
Khichar S.; IP Indian J Neurosci 2021;7(1):95-96, doi:10.18231/j.ijn.2021.015 A young male with ataxia since early childhood with Marfanoid...
Friday, March 12, 2021

Design Therapeutics, Inc. (DSGN)

›
12/3/21. Design Therapeutics is a preclinical-stage biopharmaceutical company pioneering novel small-molecule therapeutic candidates, called...