A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

(2010) A. S. Lebre et al.   JOURNAL OF MEDICAL GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

(2008) Flora Barghuti et al.   MOLECULAR GENETICS AND METABOLISM

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course

(2008) D. Zafeiriou et al.   NEUROPEDIATRICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Siblings With Leukoencephalopathy

(2008) Galen N. Breningstall et al.   Seminars in Pediatric Neurology