Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids

(2018) Andreas Traschütz et al.   PARKINSONISM & RELATED DISORDERS

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

(2016) Sonia Emperador et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency

(2015) Hideo Sasai et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Mitochondria: Impaired mitochondrial translation in human disease

(2014) Veronika Boczonadi et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Reversible lesions in the brain parenchyma in Wilson′s disease confirmed by magnetic resonance imaging: earlier administration of chelating therapy can reduce the damage to the brain

(2014) Du�koB Kozic et al.   Neural Regeneration Research

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts

(2013) Faer S Morrison et al.   BMC GENOMICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility

(2011) GAIA GIRIBALDI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY