[Clinical chemistry diagnosis in muscle diseases]

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Neurogenetics·2003

A distinct phenotype of distal myopathy in a large Finnish family.

Neurology·2003

Pure quadriceps myopathy in two sisters.

European journal of neurology·2003

Axial myopathy--an unrecognised entity.

Journal of neurology·2002

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Cell·2001

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Nature genetics·2001

Update on Current Care Guideline: Psoriasis (skin and joints).

Duodecim; laaketieteellinen aikakauskirja·2017

FOUR score in monitoring the level of consciousness of an intensive care patient: first experience of the use of the Finnish language version.

Duodecim; laaketieteellinen aikakauskirja·2017

Discussing a serious illness with a patient and family.

Duodecim; laaketieteellinen aikakauskirja·2017

Invasive treatment of superficial veins of the lower extremities.

Duodecim; laaketieteellinen aikakauskirja·2017

When should a drain be left in the abdominal cavity upon surgery?

Duodecim; laaketieteellinen aikakauskirja·2017

Diagnostics and current care of myasthenia gravis.

Duodecim; laaketieteellinen aikakauskirja·2017

Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome.

HGG advances·2026

Integrated Single-Cell and Spatial Transcriptomics Reveal SERPINE1 as a Key Link Between Macro_SPP1 Macrophages and Stromal Remodeling in Gastric Cancer.

BioFactors (Oxford, England)·2026

UBE2N deficiency contributes to MASH development via p62-regulated mitophagy and PANoptosis.

Nature metabolism·2026

Plasma lipid peroxidation as a non-invasive biomarker for distinguishing septic from non-septic postoperative critically ill patients.

Translational research : the journal of laboratory and clinical medicine·2026

Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases.

Molecular genetics and metabolism·2026

Lysine iminylation derived from ω-3 polyunsaturated fatty acids.

Proceedings of the National Academy of Sciences of the United States of America·2026

Related Experiment Videos

[Clinical chemistry diagnosis in muscle diseases]

Related Concept Videos

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

A distinct phenotype of distal myopathy in a large Finnish family.

Pure quadriceps myopathy in two sisters.

Axial myopathy--an unrecognised entity.

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

Update on Current Care Guideline: Psoriasis (skin and joints).

FOUR score in monitoring the level of consciousness of an intensive care patient: first experience of the use of the Finnish language version.

Discussing a serious illness with a patient and family.

Invasive treatment of superficial veins of the lower extremities.

When should a drain be left in the abdominal cavity upon surgery?

Diagnostics and current care of myasthenia gravis.

Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome.

Integrated Single-Cell and Spatial Transcriptomics Reveal SERPINE1 as a Key Link Between Macro_SPP1 Macrophages and Stromal Remodeling in Gastric Cancer.

UBE2N deficiency contributes to MASH development via p62-regulated mitophagy and PANoptosis.

Plasma lipid peroxidation as a non-invasive biomarker for distinguishing septic from non-septic postoperative critically ill patients.

Prescribing patterns of vitamin and cofactor therapies in genetically confirmed primary mitochondrial diseases.

Lysine iminylation derived from ω-3 polyunsaturated fatty acids.

Related Experiment Videos

[Clinical chemistry diagnosis in muscle diseases]

Related Concept Videos

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