Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16

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Omega-3 and Omega-6 fatty acids and risk of psychotic outcomes in the ALSPAC birth cohort.

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Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.

Osteoarthritis and cartilage·2019

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.

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Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.

European cells & materials·2017

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

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Journal of inherited metabolic disease·2026

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Journal of inherited metabolic disease·2026

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.

Journal of inherited metabolic disease·2026

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A heritability-optimized method for functional prioritization of rare coding variants in complex traits.

Nature genetics·2026

WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

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Evaluation of genetic parameters affecting the reliability and effectiveness of kinship reconstruction in Forest and Tundra Nenets populations using X-STR markers.

Vavilovskii zhurnal genetiki i selektsii·2026

Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.

Frontiers in endocrinology·2026

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