Marcello Scala

58PUBLICATIONS
368CO-AUTHORS
Neurology and neuromuscular diseasesNeonatologyNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)
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Publications (58)

|Aug 27, 2026
Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.

|Jul 06, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse model.

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

|May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

|Feb 13, 2026
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi

|Jan 07, 2026
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations.

Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi

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Frequent Collaborators

14 joint publications

Federico Zara

13 joint publications

Pasquale Striano

10 joint publications

Valeria Capra

7 joint publications

Mariasavina Severino