• 1287 Citations
  • 20 h-Index
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Patrizia De Marco is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Neural Tube Defects Medicine & Life Sciences
Cell Polarity Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Folic Acid Medicine & Life Sciences
Neural Tube Medicine & Life Sciences
Exome Medicine & Life Sciences
Spinal Dysraphism Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1996 2019

  • 1287 Citations
  • 20 h-Index
  • 53 Article
  • 1 Chapter
1 Citation (Scopus)

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
Brain Diseases

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Undiagnosed Diseases Network, Dec 3 2018, In : EMBO Journal. 37, 23

Research output: Contribution to journalArticle

Purkinje Cells
Motor Neurons
Post Translational Protein Processing
4 Citations (Scopus)

Nutritional characterisation of Zambian Moringa oleifera: acceptability and safety of short-term daily supplementation in a group of malnourished girls

Barichella, M., Pezzoli, G., Faierman, S. A., Raspini, B., Rimoldi, M., Cassani, E., Bertoli, S., Battezzati, A., Leone, A., Iorio, L., Ferri, V., Pinelli, G., Pusani, C., Bolliri, C., Cilia, R., Caronni, S., De Marco, P. & Cereda, E., May 23 2018, (Accepted/In press) In : International Journal of Food Sciences and Nutrition. p. 1-9 9 p.

Research output: Contribution to journalArticle

Moringa oleifera
5 Citations (Scopus)

Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development

Merello, E., Tattini, L., Magi, A., Accogli, A., Piatelli, G., Pavanello, M., Tortora, D., Cama, A., Kibar, Z., Capra, V. & De Marco, P., Aug 2017, In : European Journal of Human Genetics. 25, 8, p. 952-959 8 p.

Research output: Contribution to journalArticle

Arnold-Chiari Malformation
Occipital Bone
10 Citations (Scopus)

Rare deleterious variants in GRHL3 are associated with human spina bifida

Lemay, P., De Marco, P., Emond, A., Spiegelman, D., Dionne-Laporte, A., Laurent, S., Merello, E., Accogli, A., Rouleau, G. A., Capra, V. & Kibar, Z., Jun 2017, In : Human Mutation. 38, 6, p. 716-724 9 p.

Research output: Contribution to journalArticle

Spinal Dysraphism
Transcriptional Activation
Neural Tube
Neural Tube Defects