A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein

(2016) Atsuko Imai et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

(2014) İsmail Hakki Kalkan et al.   Hormones-International Journal of Endocrinology and Metabolism

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

(2013) Mika H. Martikainen et al.   MITOCHONDRION

Endocrine disorders in mitochondrial disease

(2013) Andrew M. Schaefer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

(2013) K. Aure et al.   NEUROLOGY

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation

(2012) Matthis Synofzik et al.   EUROPEAN JOURNAL OF NEUROLOGY

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

(2012) Morten Duno et al.   GENE

Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

(2012) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

(2012) R. D. S. Pitceathly et al.   NEUROLOGY

Assembly and oligomerization of human ATP synthase lacking mitochondrial subunits a and A6L

(2010) Ilka Wittig et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups

(2010) Anita Kloss-Brandstätter et al.   HUMAN MUTATION

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE

Resolving mitochondrial protein complexes using nongradient blue native polyacrylamide gel electrophoresis

(2009) Liang-Jun Yan et al.   ANALYTICAL BIOCHEMISTRY

Estrogen Receptor β as a Mitochondrial Vulnerability Factor

(2009) Shao-Hua Yang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

(2009) S M Ware et al.   JOURNAL OF MEDICAL GENETICS

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

(2008) Mannis van Oven et al.   HUMAN MUTATION

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY