X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (77) 77
humans (75) 75
female (53) 53
male (46) 46
adult (45) 45
clinical neurology (43) 43
mutation (40) 40
middle aged (37) 37
mitochondrial dna (29) 29
neurosciences (28) 28
mitochondrial diseases - genetics (26) 26
aged (24) 24
mitochondria (22) 22
adolescent (21) 21
dna, mitochondrial - genetics (21) 21
young adult (21) 21
abridged index medicus (16) 16
mutations (15) 15
article (14) 14
child (14) 14
cohort studies (14) 14
genetics & heredity (14) 14
mitochondrial disease (14) 14
mitochondrial diseases (14) 14
diagnosis (13) 13
neurology (13) 13
research (13) 13
disease (12) 12
genetics (12) 12
risk factors (12) 12
myopathy (11) 11
phenotype (11) 11
adults (10) 10
magnetic resonance imaging (10) 10
mitochondrial diseases - diagnosis (10) 10
muscle, skeletal - pathology (10) 10
mutation - genetics (10) 10
patients (10) 10
age (9) 9
biopsy (9) 9
mitochondrial diseases - complications (9) 9
aged, 80 and over (8) 8
analysis (8) 8
case-control studies (8) 8
dna mutations (8) 8
gene mutations (8) 8
research article (8) 8
child, preschool (7) 7
deoxyribonucleic acid--dna (7) 7
dna, mitochondrial (7) 7
exercise (7) 7
gene deletion (7) 7
genetic aspects (7) 7
genetic predisposition to disease (7) 7
melas (7) 7
myotonic dystrophy (7) 7
prevalence (7) 7
progressive external ophthalmoplegia (7) 7
skeletal muscle (7) 7
stroke (7) 7
studies (7) 7
care and treatment (6) 6
disease progression (6) 6
dna mutational analysis (6) 6
epilepsy (6) 6
gene (6) 6
heteroplasmy (6) 6
impairment (6) 6
infant (6) 6
lactic-acidosis (6) 6
medical research (6) 6
medicine (6) 6
medicine, general & internal (6) 6
medicine, research & experimental (6) 6
mtdna (6) 6
muscle, skeletal - metabolism (6) 6
original (6) 6
research articles (6) 6
retrospective studies (6) 6
age of onset (5) 5
biochemistry & molecular biology (5) 5
brain - diagnostic imaging (5) 5
cardiac & cardiovascular systems (5) 5
cardiomyopathy (5) 5
children (5) 5
cognitive impairment (5) 5
deficiency (5) 5
dna (5) 5
exercise therapy (5) 5
follow-up studies (5) 5
genetic variation (5) 5
genotype (5) 5
health aspects (5) 5
mitochondrial diseases - epidemiology (5) 5
mitochondrial diseases - physiopathology (5) 5
mitochondrial myopathies - genetics (5) 5
muscles (5) 5
musculoskeletal system (5) 5
ophthalmoplegia, chronic progressive external - genetics (5) 5
quality of life (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


The New England Journal of Medicine, ISSN 0028-4793, 02/2015, Volume 372, Issue 9, pp. 885 - 887
Journal Article
by Okkersen, Kees and Jimenez-Moreno, Cecilia and Wenninger, Stephan and Daidj, Ferroudja and Glennon, Jeffrey and Cumming, Sarah and Littleford, Roberta and Monckton, Darren G and Lochmüller, Hanns and Catt, Michael and Faber, Catharina G and Hapca, Adrian and Donnan, Peter T and Gorman, Gráinne and Bassez, Guillaume and Schoser, Benedikt and Knoop, Hans and Treweek, Shaun and van Engelen, Baziel G M and Kierkegaard, Marie and Okkersen, Kees and Jimenez-Moreno, Cecilia and Wenninger, Stephan and Daidj, Ferroudja and Glennon, Jeffrey and Cumming, Sarah and Littleford, Roberta and Monckton, Darren and Lochmüller, Hanns and Catt, Michael and Faber, Catharina and Hapca, Adrian and Donnan, Peter and Gorman, Gráinne and Bassez, Guillaume and Schoser, Benedikt and Knoop, Hans and Treweek, Shaun and van Engelen, Baziel and Maas, Daphne and Nikolaus, Stephanie and Cornelissen, Yvonne and van Nimwegen, Marlies and Klerks, Ellen and Bouman, Sacha and Heskamp, Linda and Heerschap, Arend and Rahmadi, Ridho and Groot, Perry and Heskes, Tom and Kapusta, Katarzyna and Abghari, Shaghayegh and Aschrafi, Armaz and Poelmans, Geert and Raaphorst, Joost and Trenell, Michael and van Laar, Sandra and Wood, Libby and Cassidy, Sophie and Newman, Jane and Charman, Sarah and Steffaneti, Renae and Taylor, Louise and Brownrigg, Allan and Day, Sharon and Atalaya, Antonio and Hogarth, Fiona and Schüller, Angela and Stahl, Kristina and Künzel, Heike and Wolf, Martin and Jelinek, Anna and Lignier, Baptiste and Couppey, Florence and Delmas, Stéphanie and Deux, Jean-François and Hankiewicz, Karolina and Dogan, Celine and Minier, Lisa and Chevalier, Pascale and Hamadouche, Amira and Adam, Berit and Hannah, Michael and McKenzie, Emma and Rauchhaus, Petra and Van Hees, Vincent and Catt, Sharon and Schwalber, Ameli and Merkies, Ingemar and Dittrich, Juliane and OPTIMISTIC consortium and OPTIMISTIC Consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 671 - 680
Journal Article
Molecular Cell, ISSN 1097-2765, 01/2018, Volume 69, Issue 1, pp. 9 - 23.e6
Journal Article
Human Mutation, ISSN 1059-7794, 08/2013, Volume 34, Issue 8, pp. 1111 - 1118
Journal Article
The Irish Times (1921-Current File), 07/2012, p. A9
Newspaper Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 03/2018, Volume 5, Issue 3, pp. 333 - 345
Objective The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely... 
m.3243A>G | mitochondrial disease | heritability | POPULATION | 3243A > G | CLINICAL PHENOTYPES | A3243G MUTATION | NEUROSCIENCES | CLINICAL NEUROLOGY | GENE | DISORDER | MELAS | TRAIT LINKAGE ANALYSIS | DNA MUTATIONS | BLOOD | AGE | Hearing impairment | Ataxia | Mitochondrial DNA
Journal Article
JAMA Neurology, ISSN 2168-6149, 06/2017, Volume 74, Issue 6, pp. 686 - 694
Journal Article