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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2009, Volume 106, Issue 14, pp. 5842 - 5847
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2010, Volume 99, Issue 1, pp. 58 - 61
We describe a 3.5-year-old female with Alpers disease with a genotype of p.A467T/p.G848S and with a lethal outcome. Laboratory investigation revealed elevated... 
Mitochondria | Neopterin | Cytokines | Folate–antibodies | Epilepsy | POLG | Folate-antibodies | MEDICINE, RESEARCH & EXPERIMENTAL | PTERINS | ACID | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROGRESSIVE NEURONAL DEGENERATION | Neopterin, Cytokines | MITOCHONDRIAL-DNA | LIVER-DISEASE | OPHTHALMOPLEGIA | GENETICS & HEREDITY | MUTATIONS | DNA Polymerase gamma | Central Nervous System - metabolism | Folate Receptors, GPI-Anchored | Autoantibodies - blood | Humans | Central Nervous System - pathology | Child, Preschool | Interleukin-8 - cerebrospinal fluid | DNA-Directed DNA Polymerase - genetics | Brain - metabolism | Diffuse Cerebral Sclerosis of Schilder - genetics | Inflammation Mediators - cerebrospinal fluid | Fatal Outcome | Inflammation Mediators - metabolism | Female | Interleukin-6 - cerebrospinal fluid | Carrier Proteins - immunology | Diffuse Cerebral Sclerosis of Schilder - cerebrospinal fluid | Neopterin - cerebrospinal fluid | Interferon-gamma - cerebrospinal fluid | Diffuse Cerebral Sclerosis of Schilder - metabolism | Receptors, Cell Surface - immunology | Folic Acid - cerebrospinal fluid | Autoantibodies - cerebrospinal fluid | Brain - pathology | Folic Acid - metabolism | Amino Acid Substitution | Autoimmunity | Enzymes | Nervous system diseases | Autoantibodies | Blindness | DNA polymerases | Mitochondrial DNA | Diagnosis | Seizures (Medicine) | Folic acid
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 886
  Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors; various human studies and animal models have demonstrated the... 
Proteins | Membranes | Homeostasis | Mutation | Cells | Public health
Journal Article
Proceedings of the National Academy of Sciences of the United States, ISSN 0027-8424, 04/2009, Volume 106, Issue 14, p. 5842
We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and... 
Deafness | Gene mutations | Water-electrolyte imbalances | Causes of | Ataxia | Genetic aspects | Seizures (Medicine) | Mental illness | Mental retardation | Health aspects
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2009, Volume 106, Issue 14, p. 5842
  We describe members of 4 kindreds with a previously unrecognized syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and... 
Deafness | Convulsions & seizures | Rodents | Electrolytes | Amino acids | Mutation | Mental retardation | Chromosomes
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2005, Volume 353, Issue 7, p. 740
  The clinical features of this syndrome fit with other neurodegenerative disorders. According to previous papers by the authors, the latter disorders can be... 
Journal Article
Journal Article
Brain, ISSN 0006-8950, 07/2003, Volume 126, Issue 7, p. 1537
  We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological... 
Journal Article
Journal of Neurosurgery: Pediatrics, ISSN 1933-0707, 02/2004, Volume 100, Issue 2, pp. 223 - 223
Journal Article
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