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The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

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Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.

Biochimica et biophysica acta·1999

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

Brain : a journal of neurology·1999

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Journal of neurology, neurosurgery, and psychiatry·1998

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Compromised striatal structure and function in mouse models of RARB-related disorder.

Brain : a journal of neurology·2026

EGR3 deletion attenuates developmental and epileptic encephalopathy in Kcna1-null mice.

Brain : a journal of neurology·2026

Nanobody-boosted human ASIC1a endocytosis alleviates chronic pain and anxiety-like behaviours.

Brain : a journal of neurology·2026

The neural mechanisms of Charles Bonnet syndrome.

Brain : a journal of neurology·2026

Postoperative thoracic kyphosis morphology following adult spinal deformity surgery: an analysis of fused and unfused segments.

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Omnidirectional bending sensor with three-fold structural symmetry enables decoupling of bending angle and direction.

Science advances·2026

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PloS one·2026

Comparative study of the rotating bending fatigue performance of wire arc additively manufactured hollow shafts with and without TIG pre-joining.

PloS one·2026

Acute TGFα drives OA-associated transcriptional and metabolic remodelling in primary chondrocytes.

Osteoarthritis and cartilage open·2026

Comparative finite element analysis of a novel distal tibiofibular locking plate versus conventional fixation methods for Tillaux-Chaput fractures.

Frontiers in bioengineering and biotechnology·2026

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A disorder of skeletal muscle associated with tubular aggregates

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New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype.

Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

GBA1 in Parkinson's disease: past, present and future.

The landscape of cognition and behaviour in the epilepsies: from neuropsychology to lived experience.

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