Reza Maroofian

73PUBLICATIONS
694CO-AUTHORS
Genome structure and regulationNeurogeneticsSignal transductionMedical infection agents (incl. prions)Neurology and neuromuscular diseases
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Publications (73)

|Oct 24, 2026
Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration.

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Jul 01, 2026
Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

|May 30, 2026
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Apr 12, 2026
DRD1-driven infantile dystonia: towards a mechanism-informed framework for GPCR receptoropathies.

Gülsüm Kayhan, Ryosuke Tany, Reza Maroofian

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Frequent Collaborators

58 joint publications

Henry Houlden

28 joint publications

Stephanie Efthymiou

15 joint publications

Mariasavina Severino

14 joint publications

Barbara Vona