A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
Neurol 90:e625-e631, Set, K.K.,et al, 2018
FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Late-Onset Friedreich Ataxia
Arch Neurol 62:1865-1869, Bhidayasiri,R.,et al, 2005
Cerebral Manifestation of Erdheim-Chester Disease:Clinical and Radiologic Findings
Neurol 49:1702-1705, Bohlega,S.,et al, 1997