Ataxia-telangiectasia (A-T) remains an incurable disease with limited treatment options. The progression of clinical trials is hindered by the lack of diagnostic and disease progression biomarkers for ...

Panelists discuss how the differential diagnosis for Friedreich's Ataxia involves distinguishing it from other ataxias, the process of definitive diagnosis through genetic testing, and the ...

Epidemiology, Pathophysiology, and Symptomatology of Friedreich Ataxia Video content above is prompted by the following: Describe the typical clinical presentation of FA in terms of age of onset ...

Friedreich’s ataxia is a progressive neuromuscular disease that causes uncoordinated movement, muscle weakness, balance problems, impaired speech, and frequently, heart abnormalities.

The designer nuclease, CRISPR-Cas9 system has advanced the field of genome engineering owing to its programmability and ease of use. The application of these molecular scissors for genome engineering ...

The defects in molecular and cellular processes that constitute the triggers of specific pathologies are referred to as mechanisms of disease. Research in this area is vital for designing ...

Enzyme mechanisms are the chemical transformations, and the steps within them, generated by enzymatic action on substrates. The mechanism of enzyme catalysis is similar in principle to other types ...

In-Hospital Clinical Features, Morbidity, and Mortality of Patients with Neurofibromatosis 1 in France: A Nationwide, Population-Based Retrospective Cohort Study.

a The three most commonly used maintenance doses are depicted. b Patients taking 25-50 mg once daily should take one supplemental pregabalin dose of 50 or 75 mg after hemodialysis. c Patients ...