Reza Maroofian

71PUBLICATIONS
693CO-AUTHORS
NeurogeneticsSignal transductionMedical infection agents (incl. prions)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (71)

|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

|Apr 10, 2026
FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss.

Daniel Liedtke, Kristen Rak, Katrina M Schrode

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Frequent Collaborators

56 joint publications

Henry Houlden

27 joint publications

Stephanie Efthymiou

15 joint publications

Mariasavina Severino

13 joint publications

Barbara Vona