Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

(2010) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

(2010) Saskia J.G. Hoefs et al.   MOLECULAR GENETICS AND METABOLISM

Assaying ATP synthesis in cultured cells: A valuable tool for the diagnosis of patients with mitochondrial disorders

(2009) Teresa Rizza et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

(2009) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

Effects of mitochondrial complex III disruption in the respiratory chain of Neurospora crassa

(2009) Margarida Duarte et al.   MOLECULAR MICROBIOLOGY