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American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, p. 675
  Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies -- heritable disorders that... 
Genetic disorders | Nuclear magnetic resonance--NMR | Epilepsy | Genomics | Mutation | Ribozymes | Neurological disorders
Journal Article
Genetics, ISSN 0016-6731, 06/2013, Volume 194, Issue 2, pp. 447 - 447
Mammalian male fertility relies on complex inter- and intracellular signaling during spermatogenesis. Here we describe three alleles of the widely expressed... 
Journal Article
Cell Reports, ISSN 2211-1247, 08/2015, Volume 12, Issue 7, pp. 1169 - 1183
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2015, Volume 47, Issue 8, pp. 926 - 932
Dominant optic atrophy (DOA)(1,2) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2)(3) are hereditary neurodegenerative disorders most... 
RECRUITMENT | CELLS | MITOCHONDRIAL DYNAMICS | FUSION | NEUROPATHY | ZEBRAFISH | UGO1P | OPA1 | GENETICS & HEREDITY | OUTER | GTPASE | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Embryo, Nonmammalian - metabolism | Phosphate Transport Proteins - metabolism | Cercopithecus aethiops | Embryo, Nonmammalian - embryology | Male | Mitochondrial Proteins - genetics | Zebrafish - embryology | Charcot-Marie-Tooth Disease - genetics | RNA Interference | Mitochondrial Proteins - metabolism | HEK293 Cells | Muscle Proteins - metabolism | Female | Membrane Proteins - metabolism | Optic Atrophy, Autosomal Dominant - pathology | Phosphate Transport Proteins - genetics | Charcot-Marie-Tooth Disease - metabolism | Microscopy, Electron, Transmission | Genetic Predisposition to Disease - genetics | Animals, Genetically Modified | Membrane Proteins - genetics | Saccharomyces cerevisiae Proteins - genetics | Sequence Analysis, DNA | Mitochondrial Membranes - metabolism | Muscle Proteins - genetics | Microscopy, Confocal | Exome - genetics | Animals | Pedigree | Embryo, Nonmammalian - ultrastructure | Zebrafish - metabolism | Optic Atrophy, Autosomal Dominant - genetics | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Mutation | COS Cells | Development and progression | Genetic aspects | Optic atrophy | Gene mutations | Identification and classification | Health aspects | Proteins | Neurodegeneration | Genes | Neurological disorders
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 06/2011, Volume 103, Issue 12, p. 962
The Ewing sarcoma family of tumors (ESFT) is characterized by a chromosomal translocation that generates EWS-FLI1, an oncogenic transcription factor... 
Genotype & phenotype | Inhibitor drugs | Bones | Medical screening | Gene expression | Tumors
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2015, Volume 96, Issue 4, pp. 675 - 681
Journal Article
2006, ISBN 9780807856741, xviii, 248
Book
Journal of the National Cancer Institute, ISSN 0027-8874, 2011, Volume 103, Issue 12, pp. 962 - 978
Journal Article
14.