Identification of Duchenne muscular dystrophy carriers

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Clinical pharmacology and therapeutics·2015

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Translational psychiatry·2014

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Neuromuscular disorders : NMD·2013

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Age·2013

Using genetics to enable studies on the prevention of Alzheimer's disease.

Clinical pharmacology and therapeutics·2012

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

Molecular psychiatry·2012

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Lancet (London, England)·2026

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Lancet (London, England)·2026

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

High-resolution ro-vibrational and rotational spectroscopy of deuteronated formaldehyde, H2COD.

Physical chemistry chemical physics : PCCP·2026

Self-assembly of colloidal diamond via the depletion interaction.

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

Degenerate coupled-cluster theory.

The Journal of chemical physics·2026

Liquid-liquid phase separation in a minimal explicit-solvent lattice model mimicking protein solutions.

The Journal of chemical physics·2026

Influence of pressure on structure, stability and ionic conductivity of lithium argyrodite solid electrolytes.

NPJ energy materials·2026

Magnon spectra of multi-sublattice compounds from first principles.

Journal of physics. Condensed matter : an Institute of Physics journal·2026

Related Experiment Videos

Identification of Duchenne muscular dystrophy carriers

Related Concept Videos

Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms.

Inhibition of α-ketoglutarate-and pyruvate dehydrogenase complexes in E. coli by a glutathione S-transferase containing a pathological length poly-Q domain: A possible role of energy deficit in neurological diseases associated with poly-Q expansions?

Using genetics to enable studies on the prevention of Alzheimer's disease.

A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

High-resolution ro-vibrational and rotational spectroscopy of deuteronated formaldehyde, H2COD.

Self-assembly of colloidal diamond via the depletion interaction.

Degenerate coupled-cluster theory.

Liquid-liquid phase separation in a minimal explicit-solvent lattice model mimicking protein solutions.

Influence of pressure on structure, stability and ionic conductivity of lithium argyrodite solid electrolytes.

Magnon spectra of multi-sublattice compounds from first principles.

Related Experiment Videos

Identification of Duchenne muscular dystrophy carriers

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