Leukoencephalopathies in Mitochondrial Disorders: Clinical and MRI Findings

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

(2011) E. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients

(2011) Paulo José Lorenzoni et al.   MITOCHONDRION

POLG1 manifestations in childhood

(2011) P. Isohanni et al.   NEUROLOGY

Kearns-Sayre-Syndrom

(2011) W.J. Mayer et al.   OPHTHALMOLOGE

Cranial Magnetic Resonance Imaging Findings in Children With Nonsyndromic Mitochondrial Diseases

(2011) Ching-Shiang Chi et al.   PEDIATRIC NEUROLOGY

Leukodystrophies with late disease onset: an update

(2010) Wolfgang Köhler   CURRENT OPINION IN NEUROLOGY

The use of neuroimaging in the diagnosis of mitochondrial disease

(2010) Seth D. Friedman et al.   Developmental Disabilities Research Reviews

MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: Case analysis with literature review

(2010) Kenneth R. Kaufman et al.   EPILEPSY & BEHAVIOR

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

(2010) Valeria Barcella et al.   HUMAN BRAIN MAPPING

Late-onset progressive visual loss in a man with unusual MRI findings: MS, Harding’s, Leber’s or Leber’s Plus ?

(2010) N. Cawley et al.   IRISH JOURNAL OF MEDICAL SCIENCE

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

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

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

Early-onset Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement

(2010) K. W. Chung et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

(2010) Zhaoxia Wang et al.   NEUROPATHOLOGY

Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

(2009) Johan L.K. Van Hove et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

(2009) Douglas M. Sproule et al.   Annals of the New York Academy of Sciences

Cerebral oxygen and glucose metabolism in patients with mitochondrial m.3243A>G mutation

(2009) Markus M. Lindroos et al.   BRAIN

Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images

(2009) Tetsuya Tsujikawa et al.   BRAIN & DEVELOPMENT

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy

(2009) Robert Laforce et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

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

Brain anomalies in maternally inherited diabetes and deafness syndrome

(2009) I. Fromont et al.   JOURNAL OF NEUROLOGY

Diffusion tensor imaging in a case of Kearns–Sayre syndrome: Striking brainstem involvement as a possible cause of oculomotor symptoms

(2009) Thomas Duning et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course

(2009) Cláudia Sobreira et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

MELAS with diffuse degeneration of the cerebral white matter: Report of an autopsy case

(2009) Teruo Yokoyama et al.   NEUROPATHOLOGY

Classification of White Matter Lesions on Magnetic Resonance Imaging in Elderly Persons

(2008) Ki Woong Kim et al.   BIOLOGICAL PSYCHIATRY

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

(2008) F. Perez et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings

(2008) Kayihan Uluc et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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