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

  • 25 Similar Profiles
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Somatosensory Evoked Potentials Medicine & Life Sciences
felbamate Medicine & Life Sciences
Fragile X Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Epilepsy Medicine & Life Sciences

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Research Output 1992 2019

  • 619 Citations
  • 13 h-Index
  • 45 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

A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

Pironti, E., Salpietro, V., Cucinotta, F., Granata, F., Mormina, E., Efthymiou, S., Scuderi, C., Gagliano, A., Houlden, H. & Di Rosa, G., Jul 5 2018, (Accepted/In press) In : Journal of Neurogenetics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Microcephaly
Muscle Spasticity
Brain Diseases
Electroencephalography
Mutation