• 94 Citations
  • 7 h-Index
20012019
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Fingerprint Dive into the research topics where Eugenia Borgione is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 11 Similar Profiles
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Mitochondrial DNA Medicine & Life Sciences
RNA, Transfer, Cys Medicine & Life Sciences
Ataxia Medicine & Life Sciences
Vesicle-Associated Membrane Protein 2 Medicine & Life Sciences
Microcephaly Medicine & Life Sciences

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Research Output 2001 2019

  • 94 Citations
  • 7 h-Index
  • 17 Article

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
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
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
1 Citation (Scopus)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation

for the Care4Rare Canada Consortium and the SYNaPS Study Group, Aug 1 2019, In : Annals of Neurology. 86, 2, p. 225-240 16 p.

Research output: Contribution to journalArticle

Open Access
Pyridoxal Phosphate
Polyneuropathies
Mutation
Optic Atrophy
Adenosine Triphosphate

Early-onset subcortical ischemic vascular dementia in an adult with mtDNA mutation 3316G>A

Lanza, G., Cantone, M., Musso, S., Borgione, E., Scuderi, C. & Ferri, R., Feb 20 2018, (Accepted/In press) In : Journal of Neurology. p. 1-2 2 p.

Research output: Contribution to journalArticle