• 9581 Citations
  • 47 h-Index
1992 …2019
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Fingerprint Dive into the research topics where Federico Zara is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Myoclonic Epilepsy Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Seizures Medicine & Life Sciences
Genes Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 1992 2019

  • 9581 Citations
  • 47 h-Index
  • 275 Article
  • 5 Review article
  • 1 Chapter
  • 1 Comment/debate

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders
2 Citations (Scopus)

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Deciphering Developmental Disorders Study & SYNAPS Study Group, Apr 4 2019, In : American Journal of Human Genetics. 104, 4, p. 721-730 10 p.

Research output: Contribution to journalArticle

Open Access
Vesicle-Associated Membrane Protein 2
SNARE Proteins
Synaptic Membranes
Membrane Fusion
Mutation
Mutation
Muscles
Distal Myopathies
Biopsy
Ubiquitin-Protein Ligases

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons

Aprile, D., Fruscione, F., Baldassari, S., Fadda, M., Ferrante, D., Falace, A., Buhler, E., Sartorelli, J., Represa, A., Baldelli, P., Benfenati, F., Zara, F. & Fassio, A., Jan 1 2019, In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Growth Cones
Rodentia
Neurons
Membranes
Mutation

The spectrum of intermediate SCN8A-related epilepsy

Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A-E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., May 10 2019, In : Epilepsia. 60, 5, p. 830-844 15 p.

Research output: Contribution to journalArticle

Epilepsy
Brain Diseases
Intellectual Disability
Seizures
Muscle Hypotonia