Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

(2013) Antonella Cheldi et al.   BMC Neurology

Prospective study ofPOLGmutations presenting in children with intractable epilepsy: Prevalence and clinical features

(2013) Johanna Uusimaa et al.   EPILEPSIA

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS

Massive and exclusive pontocerebellar damage in mitochondrial disease and NUBPL mutations

(2012) E. V. Tenisch et al.   NEUROLOGY

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Normal Lactate: A New Mutation in the DARS2 Gene

(2010) Jaime Lin et al.   JOURNAL OF CHILD NEUROLOGY

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

(2010) R. Spiegel et al.   JOURNAL OF MEDICAL GENETICS

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

(2010) C. Rouzier et al.   JOURNAL OF MEDICAL GENETICS

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

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

Heterogeneous patterns of tissue injury in NARP syndrome

(2010) Jeffrey M. Gelfand et al.   JOURNAL OF NEUROLOGY

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Mitochondrial ND5 mutations mimicking brainstem tectal glioma

(2010) M. Rio et al.   NEUROLOGY

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

(2009) Elsebet Ostergaard et al.   EUROPEAN JOURNAL OF PEDIATRICS

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

(2009) P. Isohanni et al.   JOURNAL OF MEDICAL GENETICS

FATAL CONGENITAL MYOPATHY AND GASTROINTESTINAL PSEUDO-OBSTRUCTION DUE TO POLG1 MUTATIONS

(2009) C. Giordano et al.   NEUROLOGY

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS