Terkko Navigator / Rare Diseases

Orotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation

A commentary on the utility of a new L-DOPA-responsive dystonia mouse model

The conditional KO approach: Cre/Lox technology in human neurons

Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity

Beyond multiple mechanisms and a unique drug: Defective autophagy as pivotal player in cerebral cavernous malformation pathogenesis and implications for targeted therapies

Dystrophin: The dead calm of a dogma

The calpain-suppressing effects of olesoxime in Huntington's disease

Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy

Pigmentation-based insertional mutagenesis is a simple and potent screening approach for identifying neurocristopathy-associated genes in mice

SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome

Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases

Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome

Listen to your gut: Using adhesion to shape the surface of functionally diverse epithelia

Vascular-targeted recombinant adeno-associated viral vectors for the treatment of rare diseases

Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis

Staufen1s role as a splicing factor and a disease modifier in Myotonic Dystrophy Type I

What do we learn from the murine Jacob/Nsmf gene knockout for human disease?

Canine models of human rare disorders

Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism