Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.
about
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesThe hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipaseSpastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
P2860
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.
description
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name
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@en
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@nl
type
label
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@en
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@nl
prefLabel
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@en
Impairment of brain and muscle ...... patients with DDHD1 mutations.
@nl
P2860
P50
P1433
P1476
Impairment of brain and muscle ...... patients with DDHD1 mutations
@en
P2093
Alessia Arnoldi
P2860
P2888
P304
P356
10.1007/S00415-014-7418-4
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P577
2014-07-03T00:00:00Z