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
GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
Neurol 77:1287-1294, Prust, M.,et al, 2011
A Floppy Child with Failure to Thrive
Lancet 366:176, Loma-Sanner,I.,et al, 2005
Infantile Bilateral Striatal Necrosis Maps to Chromosome 19q
Neurol 62:87-90, Basel-Vanagaite,L.,et al, 2004
Leigh Syndrome: Serial MR Imaging and Clinical Follow-Up
AJNR 21:1502-1509, Arii,J. & Tanabe,Y., 2000
Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
Ann Neurol 34:25-31, Koo,B.,et al, 1993