X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2483) 2483
Publication (173) 173
Book Chapter (34) 34
Book Review (27) 27
Conference Proceeding (8) 8
Dissertation (2) 2
Magazine Article (2) 2
Book / eBook (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (1882) 1882
male (977) 977
female (972) 972
clinical neurology (767) 767
dna, mitochondrial - genetics (706) 706
adult (694) 694
mutation (683) 683
mitochondrial encephalomyopathies - genetics (608) 608
index medicus (572) 572
encephalomyopathy (570) 570
neurosciences (495) 495
mitochondrial encephalomyopathy (464) 464
mitochondrial dna (458) 458
lactic-acidosis (404) 404
middle aged (404) 404
child (403) 403
adolescent (402) 402
myopathy (368) 368
point mutation (364) 364
disease (336) 336
melas (330) 330
genetics & heredity (302) 302
encephalopathy (293) 293
mitochondria (293) 293
dna (292) 292
infant (290) 290
child, preschool (284) 284
encephalomyopathies (281) 281
mitochondrial encephalomyopathies - diagnosis (249) 249
biochemistry & molecular biology (248) 248
stroke-like episodes (243) 243
magnetic resonance imaging (241) 241
mitochondrial encephalomyopathies - pathology (240) 240
pediatrics (237) 237
deficiency (216) 216
mitochondrial encephalomyopathies (213) 213
brain - pathology (211) 211
gene (211) 211
kearns-sayre syndrome (209) 209
phenotype (194) 194
melas syndrome - genetics (191) 191
muscle, skeletal - pathology (189) 189
aged (185) 185
animals (182) 182
mitochondrial diseases - genetics (180) 180
pedigree (169) 169
genetic aspects (163) 163
mitochondrial encephalomyopathies - metabolism (162) 162
mutations (162) 162
mtdna (160) 160
mitochondrial encephalomyopathies - physiopathology (156) 156
mitochondria - metabolism (150) 150
dna mutational analysis (149) 149
progressive external ophthalmoplegia (148) 148
pathology (147) 147
biopsy (146) 146
disorders (141) 141
mitochondrial encephalomyopathies - complications (140) 140
mitochondrial neurogastrointestinal encephalomyopathy (140) 140
infant, newborn (139) 139
neurology (137) 137
mitochondrial myopathy (136) 136
mitochondrial disease (132) 132
mutation - genetics (130) 130
molecular sequence data (127) 127
base sequence (126) 126
muscle (121) 121
oxidative phosphorylation (119) 119
hereditary optic neuropathy (116) 116
skeletal-muscle (116) 116
deletions (115) 115
polymerase chain reaction (114) 114
cell biology (113) 113
diagnosis (113) 113
melas syndrome (111) 111
ragged-red fibers (111) 111
mitochondrial myopathies - genetics (110) 110
diagnosis, differential (109) 109
respiratory-chain (109) 109
brain (107) 107
cardiomyopathy (106) 106
children (106) 106
mngie (106) 106
genetics (104) 104
defects (102) 102
mitochondria - genetics (101) 101
mitochondrial diseases (101) 101
cytochrome-c-oxidase (100) 100
syndrome (100) 100
features (98) 98
patient (98) 98
muscle, skeletal - metabolism (96) 96
endocrinology & metabolism (95) 95
lactic acidosis (95) 95
young adult (95) 95
disorder (93) 93
mitochondrial encephalomyopathies - enzymology (91) 91
diseases (90) 90
gene deletion (90) 90
mitochondrial diseases - diagnosis (90) 90
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2297) 2297
Japanese (66) 66
Spanish (45) 45
French (28) 28
German (27) 27
Russian (14) 14
Chinese (13) 13
Italian (9) 9
Portuguese (5) 5
Czech (3) 3
Hungarian (3) 3
Danish (1) 1
Dutch (1) 1
Finnish (1) 1
Korean (1) 1
Serbian (1) 1
Ukrainian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
ABSTRACT By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with... 
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
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 01/2018, Volume 39, Issue 1, pp. 69 - 79
Primary coenzyme Q10 (CoQ10; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a... 
cerebellar ataxia | encephalopathy | next‐generation sequencing | CoQ10 | COQ5 | personalized medicine | next-generation sequencing | RESPIRATORY-CHAIN | EXOME | RESISTANT NEPHROTIC SYNDROME | Q DEFICIENCY | MYOPATHY | GENOME | MITOCHONDRIAL ENCEPHALOMYOPATHY | GENE | MUSCLE-FIBERS | GENETICS & HEREDITY | MUTATIONS | Electron Transport | Cerebellar Ataxia - metabolism | Cerebellar Ataxia - diet therapy | Humans | Methyltransferases - genetics | Mitochondrial Proteins - genetics | Muscles - pathology | DNA Copy Number Variations | Methyltransferases - deficiency | Ubiquinone - biosynthesis | Biosynthetic Pathways - genetics | Mitochondrial Encephalomyopathies - metabolism | Female | Mitochondrial Proteins - deficiency | Fibroblasts - metabolism | Siblings | Genetic Association Studies | Mitochondrial Encephalomyopathies - genetics | Ubiquinone - analogs & derivatives | Oxygen Consumption | Mitochondrial Encephalomyopathies - diagnosis | Mitochondrial Encephalomyopathies - diet therapy | Cerebellar Ataxia - genetics | Biopsy | Pedigree | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Cerebellar Ataxia - diagnosis | Dietary Supplements | Leukocytes - metabolism | Medical research | Cerebellar ataxia | Transferases | Genomics | Physiological aspects | Medicine, Experimental | Genetic research | Research institutes | Seizures (Medicine) | Methylation | Cerebellum | Blood cells | Methyltransferase | Cognitive ability | Genomes | Biosynthesis | Leukocytes | Mitochondria | Coenzyme Q10 | Encephalopathy | Ataxia | Mutation | Supplementation | Seizures | next generation sequencing
Journal Article
Brain, ISSN 0006-8950, 11/2009, Volume 132, Issue 11, pp. 3165 - 3174
Journal Article
Brain: a journal of neurology, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2847 - 2858
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2013, Volume 84, Issue 8, pp. 936 - 938
Journal Article
Journal Article
NEUROLOGY, ISSN 0028-3878, 08/2001, Volume 57, Issue 3, pp. 515 - 518
Two brothers with myopathic coenzyme Q(10) (CoQ(10)) deficiency responded dramatically to CoQ(10) supplementation. Muscle biopsies before therapy showed... 
MITOCHONDRIAL ENCEPHALOMYOPATHY | CLINICAL NEUROLOGY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 639 - 649
We investigated two male infant patients who were given a diagnosis of progressive mitochondrial encephalomyopathy on the basis of clinical, biochemical, and... 
OXIDATIVE-PHOSPHORYLATION | RELEASE | ATROPHY | AIF | GENETICS & HEREDITY | Humans | Caspase 3 - metabolism | Male | Muscle, Skeletal - metabolism | DNA Primers - chemistry | Muscle, Skeletal - cytology | Flavin-Adenine Dinucleotide - metabolism | DNA, Mitochondrial - genetics | Genes, X-Linked | Mitochondrial Encephalomyopathies - metabolism | Computer Simulation | Muscle, Skeletal - drug effects | Female | Electron Transport - physiology | Infant, Newborn | Apoptosis Inducing Factor - metabolism | Fibroblasts - metabolism | In Situ Nick-End Labeling | DNA, Mitochondrial - metabolism | Mitochondrial Encephalomyopathies - genetics | Nervous System Diseases - drug therapy | Mutation - genetics | Twins, Monozygotic | Apoptosis Inducing Factor - genetics | Mitochondrial Encephalomyopathies - pathology | Magnetic Resonance Imaging | Poly(ADP-ribose) Polymerases - metabolism | Pedigree | Fibroblasts - drug effects | Nervous System Diseases - etiology | Protein Conformation | Fibroblasts - cytology | Poly (ADP-Ribose) Polymerase-1 | Dietary Supplements | Staurosporine - pharmacology | Apoptosis | Riboflavin - administration & dosage | Vitamin B2 | Gene mutations | Analysis | Genetic aspects | Research | DNA binding proteins | Flavin adenine dinucleotide | Gene expression | Mitochondrial encephalomyopathies | Health aspects | Report
Journal Article