Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant

Progressive external ophthalmoplegia associated with novel MT ‐ TN mutations

(2020) Kittichate Visuttijai et al.   ACTA NEUROLOGICA SCANDINAVICA

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

(2020) Carola Hedberg‐Oldfors et al.   BRAIN PATHOLOGY

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

(2019) Elizabeth Jennions et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A novel complex neurological phenotype due to a homozygous mutation in FDX2

(2018) Juliana Gurgel-Giannetti et al.   BRAIN

Incomplete penetrance in mitochondrial optic neuropathies

(2017) Leonardo Caporali et al.   MITOCHONDRION

Myopathology in the times of modern genetics

(2017) M. Schuelke et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

(2016) Matthias Baumann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

(2015) Ender Karaca et al.   NEURON

Reversible infantile mitochondrial diseases

(2014) Veronika Boczonadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

(2013) A. Laquerriere et al.   HUMAN MOLECULAR GENETICS

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes includingNDUFB9

(2011) Tobias B Haack et al.   JOURNAL OF MEDICAL GENETICS

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

(2011) J. Uusimaa et al.   JOURNAL OF MEDICAL GENETICS

Reversible infantile respiratory chain deficiency: A clinical and molecular study

(2010) Masakazu Mimaki et al.   ANNALS OF NEUROLOGY

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

(2009) R. Attali et al.   HUMAN MOLECULAR GENETICS

Nesprin 1 is critical for nuclear positioning and anchorage

(2009) Jianlin Zhang et al.   HUMAN MOLECULAR GENETICS

Combination of the Loss of cmnm5U34 with the Lack of s2U34 Modifications of tRNALys, tRNAGlu, and tRNAGln Altered Mitochondrial Biogenesis and Respiration

(2009) Xinjian Wang et al.   JOURNAL OF MOLECULAR BIOLOGY