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Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

JIMD reports·2018

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

JIMD reports·2016

N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's disease.

Translational psychiatry·2015

Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models.

British journal of pharmacology·2013

A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.

Neuromuscular disorders : NMD·2012

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a.

Human molecular genetics·2026

BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy.

Human molecular genetics·2026

Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome.

Human molecular genetics·2026

Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.

Human molecular genetics·2026

Self-Transformed MOF-on-MXene Heterostructure as an Ion-Expedited Interphase toward Low-Temperature Multivalent Metal Batteries.

Journal of the American Chemical Society·2026

Revealing the Structural-Redox Interplay in the High-Voltage Spinel LiNi0.5Mn1.5O4 Cathode.

Journal of the American Chemical Society·2026

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Colloids and surfaces. B, Biointerfaces·2026

Upscaling shock wave electrodialysis for scalable deionization.

Water research·2026

Dynamic Active-Hydrogen-Buffering Interfaces Enable Fluctuation-Resilient Selective Electrocatalytic Hydrogenation.

Advanced materials (Deerfield Beach, Fla.)·2026

Decoupled Synthesis Pathway via Precursor Functionalization Stabilizes High-Voltage Nickel-Based Cathodes.

Advanced materials (Deerfield Beach, Fla.)·2026

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A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)

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