• 1272 Citations
  • 20 h-Index
19962019
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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

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Research Output 1996 2019

  • 1272 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
mutations
disabilities
Brain Diseases
disorders

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

Tubulin
Neurons
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
Malnutrition
malnutrition
Zambia
Safety
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
Exome
Pedigree
Occipital Bone
Genes
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
Luciferases