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Carmela Scuderi

  • 619 Citations
  • 13 h-Index
1992 …2019
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  • 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 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
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 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

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 journal › Article

Microcephaly
Muscle Spasticity
Brain Diseases
Electroencephalography
Mutation