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Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated... 
aminoacyl tRNA syntethases | TARS2 | encephalomyopathy | VARS2 | OXPHOS defect | mitochondrial disease | Encephalomyopathy | Aminoacyl tRNA syntethases | Mitochondrial disease | CELLS | CARDIOMYOPATHY | INVOLVEMENT | BRAIN-STEM | TRANSFER-RNA SYNTHETASES | LEUKOENCEPHALOPATHY | GENE | DISEASE | GENETICS & HEREDITY | LACTIC-ACIDOSIS | COMPLEX-I DEFICIENCY | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Infant | Male | Threonine-tRNA Ligase - genetics | HLA Antigens - genetics | RNA, Messenger - metabolism | Electron Transport Complex I - metabolism | Saccharomyces cerevisiae - metabolism | RNA, Transfer, Val - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Electron Transport Complex I - genetics | Isoenzymes - metabolism | Valine-tRNA Ligase - metabolism | Valine-tRNA Ligase - genetics | Child | RNA, Transfer, Thr - genetics | Fibroblasts - metabolism | Cell Line | DNA, Mitochondrial - metabolism | RNA, Transfer, Thr - metabolism | Isoenzymes - genetics | Mitochondrial Encephalomyopathies - genetics | RNA, Messenger - genetics | Mitochondria - pathology | HLA Antigens - metabolism | Polymorphism, Genetic | Mitochondrial Encephalomyopathies - pathology | RNA, Transfer, Val - metabolism | Homozygote | Heterozygote | Fibroblasts - cytology | Mutation | Threonine-tRNA Ligase - metabolism | Proteins | Care and treatment | Analysis | Epilepsy | Genetic aspects | Single nucleotide polymorphisms | Aminoacyl-tRNA synthetases | Transfer RNA | Index Medicus
Journal Article
Stroke, ISSN 0039-2499, 12/2009, Volume 40, Issue 12, pp. 3685 - 3690
Background and Purpose-The cerebral volume of T2-hyperintense white matter (HWM) is an important neuroimaging marker of cerebral integrity. Pathophysiology... 
Brain imaging | MRI | Aging | White matter disease | Genetics | Hyperintense white matter | Structural imaging | brain imaging | structural imaging | PULSE-WAVE ENCEPHALOPATHY | STRUCTURAL INTEGRITY | ALZHEIMERS-DISEASE | MEXICAN-AMERICANS | RISK | LOCI | CLINICAL NEUROLOGY | genetics | white matter disease | hyperintense white matter | PERIPHERAL VASCULAR DISEASE | NORMAL-PRESSURE HYDROCEPHALUS | aging | CEREBRAL HEALTH | INDEXES | AGE | Ependyma - pathology | Leukoencephalopathies - genetics | Genetic Testing | Humans | Middle Aged | Brain Ischemia - genetics | Male | Leukoencephalopathies - physiopathology | Young Adult | Intracranial Hypertension - genetics | DNA Mutational Analysis | Nerve Fibers, Myelinated - pathology | Aged, 80 and over | Adult | Female | Genetic Linkage - genetics | Cerebrum - physiopathology | Cerebrum - pathology | Intracranial Hypertension - physiopathology | Leukoencephalopathies - pathology | Genetic Predisposition to Disease - genetics | Mexican Americans | Biomarkers - analysis | Brain Ischemia - physiopathology | Chromosome Mapping | Disease Progression | Aging - pathology | Magnetic Resonance Imaging | Cerebrospinal Fluid Pressure - physiology | Brain Ischemia - pathology | Aged | Genetic Variation - genetics | Intracranial Hypertension - complications | Cohort Studies | Index Medicus | Brain Imaging | Hyperintense White Matter | White Matter Disease
Journal Article
PLoS Biology, ISSN 1544-9173, 03/2012, Volume 10, Issue 3, pp. e1001288 - e1001288
An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and... 
RETINAL DEGENERATION | DNA DEPLETION | DROSOPHILA-PARKIN MUTANTS | UNFOLDED PROTEIN RESPONSE | PINK1/PARKIN PATHWAY | GENE | FRIEDREICHS-ATAXIA | COPY-NUMBER | GENOMIC HYBRIDIZATION-ARRAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | BIOLOGY | Mitochondria - enzymology | Electron Transport | Electroretinography - methods | Leukoencephalopathies - genetics | Retina - metabolism | Cell Proliferation | Reactive Oxygen Species - metabolism | Humans | Middle Aged | Muscles - physiopathology | Child, Preschool | Male | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | Drosophila - physiology | Drosophila - enzymology | Young Adult | Mitochondria - genetics | Mitochondrial Proteins - metabolism | HEK293 Cells | Adult | Female | Methionine-tRNA Ligase - metabolism | Photoreceptor Cells - pathology | Ataxia - genetics | Muscles - metabolism | Ataxia - metabolism | Child | Drosophila - genetics | Oxidative Phosphorylation | Neurodegenerative Diseases - genetics | Leukoencephalopathies - metabolism | Longevity | Neurodegenerative Diseases - metabolism | Unfolded Protein Response | Gene Expression Regulation, Enzymologic | Phenotype | Animals | Pedigree | Photoreceptor Cells - metabolism | Adolescent | Drosophila Proteins - genetics | Mutation | Methionine-tRNA Ligase - genetics | Retina - pathology | Proteins | Medical research | Genetics | Neurodegeneration | Genes | Index Medicus
Journal Article
NeuroMolecular Medicine, ISSN 1535-1084, 12/2014, Volume 16, Issue 4, pp. 821 - 844
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which... 
Neurology | Cerebral palsy | Neurosciences | Biomedicine | Masqueraders | Internal Medicine | Spastic, dyskinetic, and ataxic phenotypes | Neurogenetic | RISK-FACTORS | PRETERM INFANTS | NEUROSCIENCES | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | INTRAVENTRICULAR HEMORRHAGE | ACIDURIA TYPE-I | GLUTARIC ACIDURIA | GLOBUS-PALLIDUS INTERNUS | PELIZAEUS-MERZBACHER DISEASE | DEEP BRAIN-STIMULATION | Brain - embryology | Leukoencephalopathies - genetics | Genomics | Humans | Movement Disorders - diagnosis | Child, Preschool | Male | Nervous System Diseases - diagnosis | Stroke - congenital | Exome | Asphyxia Neonatorum - genetics | Brain Diseases, Metabolic - diagnosis | Cerebral Palsy - diagnosis | Leukoencephalopathies - diagnosis | Chromosome Disorders - diagnosis | Child | Hypoxia, Brain - diagnosis | Infant, Newborn | Brain Diseases, Metabolic - genetics | Neurotransmitter Agents - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Movement Disorders - genetics | Muscle Spasticity - genetics | Cerebral Palsy - genetics | Hypoxia, Brain - genetics | Cell Movement | Tissue Array Analysis | Stroke - diagnosis | Genetic Diseases, Inborn - genetics | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Molecular Diagnostic Techniques | Diagnostic Errors | Asphyxia Neonatorum - diagnosis | Adult | Female | Birth Injuries - genetics | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Globus Pallidus - pathology | Lysosomal Storage Diseases, Nervous System - diagnosis | Mitochondrial Diseases - genetics | Diagnosis, Differential | Genome-Wide Association Study | Leukoencephalopathies - metabolism | Birth Injuries - diagnosis | Muscle Spasticity - diagnosis | Chromosome Disorders - genetics | Mitochondrial Diseases - diagnosis | Medical colleges | Molecular genetics | Children's hospitals | Development and progression | Diagnostic imaging | Diagnosis | Index Medicus | masqueraders | dyskinetic and ataxic phenotypes | neurogenetic | spastic
Journal Article
Genes and Development, ISSN 0890-9369, 04/2016, Volume 30, Issue 7, pp. 812 - 826
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, pp. 415 - 423
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 02/2015, Volume 16, Issue 1, pp. 5 - 5
Background: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial... 
CTC1 | Autosomal recessive disease | Notch signaling | Whole exome sequencing | Coats plus syndrome | CRMCC | Dextrocardia | COMPONENT 1 | COMPLEX | CYSTS | MICROANGIOPATHY | DYSKERATOSIS-CONGENITA | GENETICS & HEREDITY | DISORDER | SPONDYLOCOSTAL DYSOSTOSIS | MUTATIONS | EXPRESSION | CALCIFICATIONS | Calcinosis - genetics | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Calcinosis - complications | Seizures - genetics | Receptors, Notch - metabolism | Genomics | Humans | Brain Neoplasms - pathology | Male | Mutation, Missense | Brain Neoplasms - complications | Seizures - complications | Telomere-Binding Proteins - genetics | Seizures - pathology | Base Sequence | Retinal Diseases - pathology | Ataxia - genetics | Child | Ataxia - pathology | Telomere - genetics | Leukoencephalopathies - pathology | Basic Helix-Loop-Helix Transcription Factors - genetics | Signal Transduction | Retinal Diseases - complications | Brain Neoplasms - genetics | Dextrocardia - complications | Muscle Spasticity - pathology | Sequence Analysis, DNA | Central Nervous System Cysts - pathology | India | Central Nervous System Cysts - genetics | Homozygote | Exome - genetics | Phenotype | Animals | Pedigree | Muscle Spasticity - complications | Leukoencephalopathies - complications | Central Nervous System Cysts - complications | Ataxia - complications | Calcinosis - pathology | Muscle Spasticity - genetics | Case studies | Genetic aspects | Genetic disorders | Exome sequencing | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 422 - 432
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 644 - 651
Journal Article
Journal Article