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topic_facet:"Mitochondrial Disease"
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/vufind/Search/Results?lookfor=%22Mitochondrial+disease%22&type=Subject&filter%5B%5D=topic_facet%3A%22Mitochondrial+Disease%22
/vufind/Search/Results?lookfor=%22Mitochondrial+disease%22&type=Subject&filter%5B%5D=topic_facet%3A%22Mitochondrial+Disease%22
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PubPharm (198)
1
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic
enthalten in:
Molecular genetics and metabolism reports
| 2022
von
Gordon-Lipkin, E.
|
Kruk, S.
|
Thompson, E.
| +6
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2
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic
in:
Molecular Genetics and Metabolism Reports
| 2022
von
Eliza Gordon-Lipkin
|
Shannon Kruk
|
Elizabeth Thompson
| +6
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3
Anticonvulsant Medications in Mitochondrial Disease
enthalten in:
Pediatric neurology briefs
| 2017
von
Mithal, D.
|
Kurz, J.
CommentOn: Epilepsy Res. 2017 Oct;136:5-11. - PMID 28732239
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4
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
enthalten in:
Human genetics
| 2017
von
Rodríguez-García, M.
|
Cotrina-Vinagre, F.
|
Carnicero-Rodríguez, P.
| +1
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5
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
enthalten in:
Human genetics
| 2017
von
Rodríguez-García, M.
|
Cotrina-Vinagre, F.
|
Carnicero-Rodríguez, P.
| +1
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6
An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene
enthalten in:
Human genetics
| 2017
von
Rodríguez-García, M.
|
Cotrina-Vinagre, F.
|
Carnicero-Rodríguez, P.
| +1
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7
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
enthalten in:
Human genetics
| 2017
von
Renkema, G.
|
Visser, G.
|
Baertling, F.
| +8
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8
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
enthalten in:
Human genetics
| 2017
von
Renkema, G.
|
Visser, G.
|
Baertling, F.
| +8
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9
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
enthalten in:
Human genetics
| 2017
von
Renkema, G.
|
Visser, G.
|
Baertling, F.
| +8
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10
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
enthalten in:
Journal of inherited metabolic disease
| 2017
von
Karaa, A.
|
Rahman, S.
|
Lombès, A.
| +17
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Thema: Mitochondrial Disease
Medienart
198
Aufsätze
129
E-Artikel
129
E-Ressourcen
69
Gedruckte Aufsätze
Zeitschriftentitel
88
Journal of inherited metabolic disease
12
Pediatric and developmental pathology
9
Journal of neurology
9
Reactions weekly
8
Genome biology
6
Current neurology and neuroscience reports
6
Human genetics <Berlin>
5
The Journal of biological chemistry
4
CNS drugs
4
Molecular and chemical neuropathology
3
European journal of pediatrics
3
Human genetics
3
Journal of assisted reproduction and genetics
3
Journal of autism and developmental disorders
2
BMC bioinformatics
2
BMC genomics
2
BMC medical genetics
2
Genome medicine
2
Genomics, society and policy
2
International journal of legal medicine
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Thema
Mitochondrial Disease
48
Mitochondrial Disorder
15
Mitochondrial Myopathy
14
Leigh Syndrome
11
Mitochondrial Dysfunction
10
CoQ10
9
Lactic Acidosis
9
Mitochondrial Genome
8
Mitochondrial Biogenesis
8
Mitochondrial Dynamic
8
Respiratory Chain
7
Journal Article
7
Progressive External Ophthalmoplegia
7
Pyruvate Dehydrogenase Complex
6
Assembly Factor
6
Autism Spectrum Disorder
6
Ketogenic Diet
6
Natural History Study
6
Ophthalmoplegia
6
Resveratrol
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Erscheinungszeitraum
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1900-1999
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