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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
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
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 886 - 893
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
by Ou, S. I and Camidge, D. R and Engelman, J and Clark, J and Tye, L and Wilner, K and Stephenson, P and Varella-Garcia, M and Iafrate, A and Shaw, A. T and Hainaut, P and Ma, X and Lacas, B and Tsao, M and Douillard, J and Rousseau, V and Dunant, A and Seymour, L and Filipits, M and Graziano, S and He, J and Yang, H and Deng, Q and He, P and Jiang, J and Zhao, M and Gu, X and Zheng, L and Pang, H and Zhou, J. X and Reinmuth, N and Scherer, S. J and Penzel, R and Schnabel, P and Meister, M and Kiemle-Kallee, J and Reuss, A and Fischer, J. R and Wolf, M and Thomas, M and von Laffert, M and Berg, E and Lenze, D and Lohneis, P and Hummel, M and Dietel, M and Han, X and Ma, L and Liu, Y and Zhang, N. N and Li, D and Shi, Y and Furugaki, K and Iwai, T and Moriya, Y and Fujimoto-Ouchi, K and Mok, T. S. K and Park, K and Geater, S. L and Agarwal, S and Han, M and Credi, M and McKee, K and Kuriyama, N and Slichenmyer, W and Tan, E. H and Greillier, L and Martel-Lafay, I and Arpin, D and Pourel, N and Chabaud, S and Lamy, R and Madroszyk, A and Fournel, P and Strom, H. H and Sundstrom, S and Helbekkmo, N and Bremnes, R and Aasebo, U and van Elmpt, W and Ollers, M and Dingemans, A. C and Lambin, P and De Ruysscher, D and Topkan, E and Parlak, C and Topuk, S and Ozyilkan, O and Uyterlinde, W and Vincent, A. D and Belderbos, J and Korse, T and Baas, P and van den Heuvel, M and Satouchi, M and Chiba, Y and Yamamoto, N and Nishimura, Y and Tsujino, K and Fujisaka, Y and ... and on behalf of The Mar-LC Collaborative Group
Annals of Oncology, ISSN 0923-7534, 09/2012, Volume 23, Issue suppl 9, pp. ix389 - ix399
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
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
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
Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, 03/2013, Volume 51, Issue 3, pp. 545 - 554
Journal Article
Brain, ISSN 0006-8950, 03/2003, Volume 126, Issue 3, p. 642
  Mutations in the gene for the ganglioside-induced differentiation-associated protein-1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive... 
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
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