Research Output per year
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.
- 14 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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1992 2019
- 635 Citations
- 14 h-Index
- 46 Article
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 journal › Article
Open Access
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
Scuderi, C., Saccuzzo, L., Vinci, M., Castiglia, L., Galesi, O., Salemi, M., Mattina, T., Borgione, E., Città, S., Romano, C. & Fichera, M., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.Research output: Contribution to journal › Article
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
SYNAPS Study Group, 2019, In : Brain. 142, 10, p. 2948-2964 17 p.Research output: Contribution to journal › Article
3
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 journal › Article
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 journal › Article
Open Access
Pyridoxal Phosphate
Polyneuropathies
Mutation
Optic Atrophy
Adenosine Triphosphate