A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

(2010) Russell C. Dale et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

Primary Disorders of Metabolism and Disturbed Fetal Brain Development

(2009) Asuri N. Prasad et al.   CLINICS IN PERINATOLOGY

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

(2009) Yanick J Crow et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Ribonuclease H: the enzymes in eukaryotes

(2009) Susana M. Cerritelli et al.   FEBS Journal

Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence

(2009) M. Rohrbach et al.   FETAL DIAGNOSIS AND THERAPY

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

The role of mitochondria in cellular defense against microbial infection

(2009) Damien Arnoult et al.   SEMINARS IN IMMUNOLOGY

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

(2008) Daniella Magen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency

(2007) Maya R. Vilà et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES