A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.
暂无分享,去创建一个
P. Fergelot | P. Brugières | D. Lacombe | C. Goizet | J. Trocello | S. Moutton | B. Arveiler | V. Planté-Bordeneuve | E. Wenisch | F. Clot | N. Houcinat | V. Larue
[1] J. Jankovic,et al. Iron dysregulation in movement disorders , 2012, Neurobiology of Disease.
[2] A. Coulthard,et al. Neuroferritinopathy: a new inborn error of iron metabolism , 2012, neurogenetics.
[3] D. Birchall,et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. , 2006, Brain : a journal of neurology.
[4] Rabi Tawil,et al. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. , 2005, Journal of neuropathology and experimental neurology.
[5] A. Destée,et al. Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system? , 1997, Journal of neurology, neurosurgery, and psychiatry.