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Publications by Martina Pyrski

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Bacterial MgrB Peptide Activates Chemoreceptor Fpr3 in Mouse Accessory Olfactory System and Drives Avoidance Behaviour

Nature Communications

Molecular Biology

English

Related publications

Homozygous Loss-Of-Function Mutations in SLC26A7 Cause Goitrous Congenital Hypothyroidism

Yearbook of Paediatric Endocrinology

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

Sodium Channel, Voltage-Gated, Type IX, Α Subunit (SCN9A; NaV1.7)

Science-Business eXchange

English

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American Journal of Human Genetics

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English

Computational Study of the Loss-Of-Function Mutations in the Kv1.5 Channel Associated With Atrial Fibrillation

Chemical Engineering

English

Loss-Of-Function Mutations in QRICH2 Cause Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella

Nature Communications

Molecular Biology

English

Mutations in NaV1.5 Reveal Calcium-Calmodulin Regulation of Sodium Channel

Frontiers in Physiology

English

Maturation of EEG Oscillations in Children With Sodium Channel Mutations

Brain and Development

Developmental Neuroscience

English