X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (2475) 2475
Publication (173) 173
Book Chapter (34) 34
Book Review (24) 24
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 (1886) 1886
male (975) 975
female (972) 972
clinical neurology (765) 765
dna, mitochondrial - genetics (709) 709
adult (694) 694
mutation (682) 682
mitochondrial encephalomyopathies - genetics (612) 612
index medicus (568) 568
encephalomyopathy (567) 567
neurosciences (491) 491
mitochondrial encephalomyopathy (462) 462
mitochondrial dna (459) 459
middle aged (405) 405
adolescent (404) 404
lactic-acidosis (403) 403
child (401) 401
myopathy (368) 368
point mutation (363) 363
disease (336) 336
melas (332) 332
genetics & heredity (301) 301
encephalopathy (293) 293
dna (291) 291
mitochondria (291) 291
infant (288) 288
child, preschool (283) 283
encephalomyopathies (281) 281
biochemistry & molecular biology (249) 249
mitochondrial encephalomyopathies - diagnosis (248) 248
stroke-like episodes (243) 243
magnetic resonance imaging (241) 241
mitochondrial encephalomyopathies - pathology (240) 240
pediatrics (236) 236
deficiency (216) 216
mitochondrial encephalomyopathies (213) 213
brain - pathology (212) 212
gene (210) 210
kearns-sayre syndrome (209) 209
phenotype (196) 196
melas syndrome - genetics (192) 192
muscle, skeletal - pathology (190) 190
aged (185) 185
animals (183) 183
mitochondrial diseases - genetics (181) 181
pedigree (168) 168
mitochondrial encephalomyopathies - metabolism (163) 163
genetic aspects (161) 161
mtdna (161) 161
mutations (159) 159
mitochondrial encephalomyopathies - physiopathology (155) 155
mitochondria - metabolism (153) 153
dna mutational analysis (150) 150
pathology (147) 147
progressive external ophthalmoplegia (147) 147
biopsy (145) 145
mitochondrial encephalomyopathies - complications (141) 141
mitochondrial neurogastrointestinal encephalomyopathy (140) 140
infant, newborn (139) 139
disorders (138) 138
mitochondrial myopathy (136) 136
neurology (135) 135
mitochondrial disease (129) 129
mutation - genetics (129) 129
molecular sequence data (128) 128
base sequence (126) 126
muscle (122) 122
hereditary optic neuropathy (119) 119
oxidative phosphorylation (117) 117
skeletal-muscle (117) 117
polymerase chain reaction (114) 114
deletions (113) 113
diagnosis (113) 113
cell biology (112) 112
melas syndrome (111) 111
ragged-red fibers (111) 111
diagnosis, differential (110) 110
mitochondrial myopathies - genetics (110) 110
respiratory-chain (109) 109
brain (107) 107
children (106) 106
genetics (106) 106
mngie (106) 106
mitochondria - genetics (104) 104
mitochondrial diseases (103) 103
cardiomyopathy (102) 102
defects (102) 102
cytochrome-c-oxidase (98) 98
patient (98) 98
syndrome (98) 98
features (97) 97
muscle, skeletal - metabolism (96) 96
endocrinology & metabolism (95) 95
young adult (95) 95
disorder (94) 94
lactic acidosis (94) 94
mitochondrial diseases - diagnosis (91) 91
mitochondrial encephalomyopathies - enzymology (91) 91
gene deletion (90) 90
diseases (89) 89
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (2290) 2290
Japanese (66) 66
Spanish (45) 45
German (28) 28
French (27) 27
Russian (14) 14
Chinese (13) 13
Italian (8) 8
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


Neurotherapeutics, ISSN 1933-7213, 4/2013, Volume 10, Issue 2, pp. 186 - 198
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | POLYMERASE-GAMMA-A | CORRECTS BIOCHEMICAL DERANGEMENTS | ONSET SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN DEFICIENCY | MULTIPLE MTDNA DELETIONS | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | ALPERS-SYNDROME | PHARMACOLOGY & PHARMACY | DEOXYGUANOSINE KINASE-DEFICIENCY | STEM-CELL TRANSPLANTATION | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Review
Journal Article
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 | INVOLVEMENT | BRAIN-STEM | LEUKOENCEPHALOPATHY | GENE | DNA | GENETICS & HEREDITY | 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