Associated Papers
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S et al.
European Journal of Medical Genetics, 2016
A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.
Wu C et al.
Frontiers in Aging Neuroscience, 2016
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.
Liguori R et al.
Journal of Neurology, 2014
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.
Tesson C et al.
American Journal of Human Genetics, 2012
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
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