Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

Emerging concepts in the therapy of mitochondrial disease

(2015) Carlo Viscomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

(2015) Maria Andrea Desbats et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

(2014) Metodi D Metodiev et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

(2014) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

(2014) Lindsay C. Burrage et al.   MOLECULAR GENETICS AND METABOLISM

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy

(2013) Adriana Malena et al.   ACTA NEUROPATHOLOGICA

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

In Human Pseudouridine Synthase 1 (hPus1), a C-Terminal Helical Insert Blocks tRNA from Binding in the Same Orientation as in the Pus1 Bacterial Homologue TruA, Consistent with Their Different Target Selectivities

(2013) Nadine Czudnochowski et al.   JOURNAL OF MOLECULAR BIOLOGY

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

(2012) Florin Sasarman et al.   HUMAN MUTATION

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

(2012) Marco Spinazzi et al.   Nature Protocols

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS