X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (821) 821
Publication (115) 115
Book Chapter (27) 27
Book Review (20) 20
Newsletter (18) 18
Newspaper Article (8) 8
Book / eBook (7) 7
Conference Proceeding (7) 7
Data Set (1) 1
Dissertation (1) 1
Paper (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (611) 611
index medicus (381) 381
mitochondrial dna (345) 345
mutation (261) 261
dna, mitochondrial - genetics (243) 243
female (222) 222
male (220) 220
clinical neurology (206) 206
adult (179) 179
mitochondria (173) 173
mitochondrial diseases - genetics (159) 159
genetics & heredity (150) 150
neurosciences (148) 148
mitochondrial neurogastrointestinal encephalomyopathy (143) 143
disease (130) 130
mngie (128) 128
animals (127) 127
mitochondrial encephalomyopathies - genetics (124) 124
progressive external ophthalmoplegia (122) 122
mutations (116) 116
thymidine phosphorylase (115) 115
biochemistry & molecular biology (98) 98
child (92) 92
neurology (91) 91
genetic aspects (88) 88
disorder (87) 87
pediatrics (87) 87
adolescent (85) 85
middle aged (84) 84
mitochondrial diseases (84) 84
research (84) 84
mitochondrial disease (81) 81
mitochondrial diseases - diagnosis (78) 78
dna (76) 76
thymidine phosphorylase - genetics (73) 73
mtdna (72) 72
mitochondria - metabolism (71) 71
deoxyribonucleic acid--dna (70) 70
diagnosis (70) 70
genetics (68) 68
magnetic resonance imaging (68) 68
mitochondrial encephalomyopathies - diagnosis (68) 68
phenotype (68) 68
lactic-acidosis (67) 67
cell biology (66) 66
cytochrome-c-oxidase (65) 65
deficiency (65) 65
gene (64) 64
medicine & public health (64) 64
multiple deletions (64) 64
neurogastrointestinal encephalomyopathy (64) 64
dna, mitochondrial - metabolism (63) 63
genes (63) 63
mitochondria - genetics (61) 61
point mutation (58) 58
enzymes (57) 57
myopathy (55) 55
infant (54) 54
mutation - genetics (53) 53
proteins (53) 53
thymidine (53) 53
mitochondrial diseases - metabolism (52) 52
stroke-like episodes (52) 52
dna polymerase gamma (51) 51
hereditary optic neuropathy (51) 51
mice (49) 49
muscle, skeletal - pathology (49) 49
brain - pathology (48) 48
encephalopathy (48) 48
genomes (48) 48
analysis (47) 47
article (47) 47
child, preschool (47) 47
depletion (47) 47
dna-directed dna polymerase - genetics (46) 46
gene mutations (46) 46
aged (45) 45
dna depletion (45) 45
gene deletion (45) 45
mitochondrial encephalomyopathies - pathology (45) 45
young adult (45) 45
disorders (44) 44
dna mutational analysis (44) 44
medicine, research & experimental (44) 44
oxidative phosphorylation (44) 44
children (43) 43
encephalomyopathy (43) 43
gastroenterology & hepatology (43) 43
mitochondrial myopathies - genetics (43) 43
deletions (42) 42
metabolism (42) 42
patients (42) 42
physiological aspects (42) 42
review (42) 42
biopsy (41) 41
intestinal pseudo-obstruction - diagnosis (41) 41
mitochondrial diseases - pathology (41) 41
syndrome (41) 41
features (40) 40
medicine (40) 40
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (844) 844
French (12) 12
Japanese (5) 5
Spanish (5) 5
German (4) 4
Czech (2) 2
Portuguese (2) 2
Russian (2) 2
Persian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
Brain, ISSN 0006-8950, 10/2015, Volume 138, Issue 10, pp. 2847 - 2858
Journal Article
JOURNAL OF CLINICAL MEDICINE, ISSN 2077-0383, 11/2018, Volume 7, Issue 11, p. 389
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss... 
mitochondrial neurogastrointestinal encephalopathy | THYMIDINE | DIAGNOSIS | MNGIE | INTESTINAL PSEUDOOBSTRUCTION | mitochondrial therapy | DEFICIENCY | ENCEPHALOPATHY | MEDICINE, GENERAL & INTERNAL | mitochondrial diseases | NEUROPATHY | MTDPS1 | PHOSPHORYLASE GENE-MUTATIONS | SPECTRUM | STEM-CELL TRANSPLANTATION
Journal Article
Neurology, ISSN 0028-3878, 04/2016, Volume 86, Issue 14, pp. e147 - e150
A 26-year-old man born to nonconsanguineous parents was admitted with complaints of muscle cramps, fatigue, recurrent abdominal pain, and vomiting since 10... 
THYMIDINE PHOSPHORYLASE | CLINICAL NEUROLOGY | MNGIE | Intestinal Pseudo-Obstruction - diagnosis | Mitochondrial Encephalomyopathies - therapy | Humans | Adult | Male | Treatment Outcome | Mitochondrial Encephalomyopathies - diagnosis | Peritoneal Dialysis - methods | Intestinal Pseudo-Obstruction - therapy
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 12/2011, Volume 34, Issue 6, pp. 1199 - 1203
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2014, Volume 9, Issue 5, p. e96692
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive mitochondrial disease associated with mutations in the nuclear TYMP... 
DNA DEPLETION | MNGIE | MULTIDISCIPLINARY SCIENCES | CELL GROWTH-FACTOR | DISORDER | MODEL | CANCER | EXPRESSION | DELETIONS | TRANSPLANTATION | FEATURES | Immunohistochemistry | Liver - pathology | Muscle, Skeletal - enzymology | Liver - enzymology | Enzyme-Linked Immunosorbent Assay | Humans | Liver - metabolism | Middle Aged | Mitochondrial Encephalomyopathies - genetics | Male | Muscle, Skeletal - metabolism | Duodenum - enzymology | RNA, Messenger - metabolism | Blotting, Western | Mitochondrial Encephalomyopathies - pathology | Duodenum - pathology | Thymidine Phosphorylase - genetics | Duodenum - metabolism | Adult | Female | Muscle, Skeletal - pathology | Thymidine Phosphorylase - metabolism | Enzymes | RNA | Mitochondrial DNA | Gene therapy | Health aspects | Hematopoietic stem cells | Enzyme-linked immunosorbent assay | Enzyme activity | Syngeneic grafts | Liver | Stem cell transplantation | Transplantation | Thymidine | Kinases | Cell growth | Allografts | Enzymatic activity | Bone marrow | Growth factors | Thymidine phosphorylase | Deoxyribonucleic acid--DNA | Life expectancy | Liver diseases | Breast cancer | Gene expression | Patients | Phosphorylase | Hemopoiesis | Quality of life | Neurology | Life span | Hepatocytes | Neurological complications | Stem cells | Glyceraldehyde-3-phosphate dehydrogenase | Nuclei (cytology) | Mutation | Cytoplasm | Liver transplantation | Deoxyribonucleic acid | DNA
Journal Article
Journal of Neurology, ISSN 0340-5354, 12/2012, Volume 259, Issue 12, pp. 2699 - 2706
Journal Article
Journal Article