Suchergebnisse - "Mitochondrial disease"

PubPharm (874)

1

Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families

enthalten in: Gene | 2024

von Gómez González, C. | Del Campo Cano, I. | Isabel Fernández-Avila, A. | +15

2

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies

enthalten in: Journal of neurology | 2024

von Ferreira, T. | Polavarapu, K. | Olimpio, C. | +3

3

Mitochondrial encephalopathies and myopathies : Our tertiary center's experience

enthalten in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2024

von Ozlu, C. | Messahel, S. | Minassian, B. | +1

4

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders

enthalten in: Biochimica et biophysica acta. Molecular basis of disease | 2024

von Vincent, A. | Chen, C. | Gomes, T. | +14

5

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder : a case report

enthalten in: BMC neurology | 2024

von Walimbe, A. | Machol, K. | Kralik, S. | +7

6

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

enthalten in: Orphanet journal of rare diseases | 2024

von Abu Hanna, F. | Zehavi, Y. | Cohen-Barak, E. | +5

7

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

enthalten in: Orphanet journal of rare diseases | 2024

von Abu Hanna, F. | Zehavi, Y. | Cohen-Barak, E. | +5

8

Bilateral cochlear implants in a MELAS patient

enthalten in: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery | 2024

von Sun, Y. | Chou, Y. | Ho, P. | +4

9

Magnetic resonance spectroscopy in MELAS syndrome : correlation with CSF and plasma metabolite levels and change after glutamine supplementation

enthalten in: Neuroradiology | 2024

von Guerrero-Molina, M. | Bernabeu-Sanz, �. | Ramos-González, A. | +6

10

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population

enthalten in: Human molecular genetics | 2024

von Cannon, S. | Hall, T. | Hawkes, G. | +7

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