[Gene analysis of neurologic and psychiatric 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

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal of human genetics·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Endocrine, metabolic & immune disorders drug targets·2026

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

Molecular psychiatry·2026

Methodological frameworks to probe histone acetylation-driven circuit plasticity in SYNGAP1-associated neurodevelopmental disorders.

Methods in enzymology·2026

Exploring the genetic spectrum of parkinsonism in Brazil.

Parkinsonism & related disorders·2026

Related Experiment Videos

[Gene analysis of neurologic and psychiatric 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.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Multi-omics Mendelian Randomization Prioritizes Neutrophil Extracellular Trap-related Genes Associated with Atrial Fibrillation Risk.

Developmental and cellular vulnerabilities underlie genetic architecture of schizophrenia.

Methodological frameworks to probe histone acetylation-driven circuit plasticity in SYNGAP1-associated neurodevelopmental disorders.

Exploring the genetic spectrum of parkinsonism in Brazil.

Related Experiment Videos

[Gene analysis of neurologic and psychiatric diseases]

Related Concept Videos

Related Articles