Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy

Essential Role of TID1 in Maintaining Mitochondrial Membrane Potential Homogeneity and Mitochondrial DNA Integrity

(2014) A. C.-H. Ng et al.   MOLECULAR AND CELLULAR BIOLOGY

ROMO1 Is an Essential Redox-Dependent Regulator of Mitochondrial Dynamics

(2014) M. Norton et al.   Science Signaling

CRTC2 Is Required for β-Cell Function and Proliferation

(2013) Chandra E. Eberhard et al.   ENDOCRINOLOGY

Multiple Symmetrical Lipomatosis — A mitochondrial disorder of brown fat

(2013) C. Plummer et al.   MITOCHONDRION

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

(2013) M. Mancuso et al.   NEUROLOGY

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations

(2011) D. Araújo-Vilar et al.   CLINICAL ENDOCRINOLOGY

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

(2009) Judith Calvo et al.   ARCHIVES OF NEUROLOGY

Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

(2008) Elizabeth A. Amiott et al.   EXPERIMENTAL NEUROLOGY

Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations

(2008) G. A. Nicholson et al.   NEUROLOGY