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Publications by DJ Nicholl

Activating Mutations in Stim1 and Orai1 Cause Overlapping Syndromes of Tubular Aggregate Myopathy and Congenital Miosis

Journal of Neurology, Neurosurgery and Psychiatry

English

Related publications

Calcium Dyshomeostasis in Tubular Aggregate Myopathy

International Journal of Molecular Sciences

Organic Chemistry

Molecular Biology

Theoretical Chemistry

Inorganic Chemistry

Computer Science Applications

English

Role of STIM1 and Orai1 in the Formation of Tubular Aggregates in Ageing Skeletal Muscle Fibers

Biophysical Journal

English

Orai1, STIM1, and iPLA2 Determine Arterial Vasoconstriction

Arteriosclerosis, Thrombosis, and Vascular Biology

Cardiovascular Medicine

English

The Role of EHD2 in Orai1-Stim1 Interaction

Biophysical Journal

English

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

American Journal of Human Genetics

English

Preserved Effector Functions of Human ORAI1- And STIM1-deficient Neutrophils

Journal of Allergy and Clinical Immunology

English

Fatal Congenital Myopathy and Gastrointestinal Pseudo-Obstruction Due to POLG1 Mutations

English

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

American Journal of Human Genetics

English

Spastic Ataxia With Congenital Miosis

English