Napoli, Eleonora

Altered Bioenergetics in Primary Dermal Fibroblasts from Adult Carriers of the FMR1 Premutation Before the Onset of the Neurodegenerative Disease Fragile X-Associated Tremor/Ataxia Syndrome. [electronic resource] - Cerebellum (London, England) 10 2016 - 552-64 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1473-4230

10.1007/s12311-016-0779-8 doi


Adenosine Triphosphate--metabolism
Adolescent
Adult
Ataxia--metabolism
Biomarkers--metabolism
Cells, Cultured
Child
Citrate (si)-Synthase--metabolism
Dermis--metabolism
Endophenotypes--metabolism
Fibroblasts--metabolism
Fragile X Mental Retardation Protein--genetics
Fragile X Syndrome--metabolism
Heterozygote
Humans
Male
Middle Aged
Mitochondria--metabolism
Oxidative Stress--physiology
Oxygen--metabolism
Prodromal Symptoms
Tremor--metabolism
Trinucleotide Repeat Expansion
Young Adult