Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

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Mitochondrial DNA haplogroup ‘R’ is associated with Noonan syndrome of South India

(2009) Deepa Selvi Rani et al.   MITOCHONDRION

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Isoform-specific Interaction of C-RAF with Mitochondria

(2008) Antoine Galmiche et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

(2008) Gerben Truin et al.   MOLECULAR GENETICS AND METABOLISM

Control of mitochondria dynamics and oxidative metabolism by cAMP, AKAPs and the proteasome

(2008) Annalisa Carlucci et al.   TRENDS IN CELL BIOLOGY