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Carmela Scuderi

Observed names: C Scuderi, C. Scuderi, C.S. Scuderi, CARMELA SCUDERI, Scuderi, Carmela
ORCID: 0000-0001-5901-0041
Observed ORCID: 0000-0001-5901-0041
OpenAlex ID: A5048116277
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Vincenzo Salpietro, Christine L. Dixon, et al. · Nature Communications · 258
Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
2009 · E. Mercuri, S. Messina, et al. · Neurology · 188
Sleep in subjects with autistic disorder: a neurophysiological and psychological study
2000 · Maurizio Elia, Raffaele Ferri, et al. · Brain and Development · 179
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
2016 · Holly A.F. Stessman, Marjolein H. Willemsen, et al. · The American Journal of Human Genetics · 163
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
2019 · Vincenzo Salpietro, Nancy T. Malintan, et al. · The American Journal of Human Genetics · 137
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
2020 · Marcella Neri, Rachele Rossi, et al. · Frontiers in Genetics · 88
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2020 · Lucia V. Schottlaender, Rosella Abeti, et al. · The American Journal of Human Genetics · 88
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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
2019 · Stephanie Efthymiou, Vincenzo Salpietro, et al. · Brain · 86
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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment
2017 · Massimo Zollo, Mustafa Ahmed, et al. · Brain · 76
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants
2020 · Caroline Neuray, Reza Maroofian, et al. · Brain · 57
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Clinical Correlates of Brain Morphometric Features of Subjects With Low-Functioning Autistic Disorder
2000 · Maurizio Elia, Raffaele Ferri, et al. · Journal of Child Neurology · 57
Familial Cortical Tremor, Epilepsy, and Mental Retardation: A Distinct Clinical Entity?
1998 · Maurizio Elia, Sebastiano A. Musumeci, et al. · Archives of Neurology · 44
POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
2008 · S. Messina, M. Mora, et al. · Neuromuscular Disorders · 41
LAMA2 Gene Analysis in Congenital Muscular Dystrophy: New Mutations, Prenatal Diagnosis, and Founder Effect
2005 · Claudia Di Blasi, Daniela Piga, et al. · Archives of Neurology · 33
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
2019 · Carmela Scuderi, Lucia Saccuzzo, et al. · European Journal of Human Genetics · 32
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Carrier screening for spinal muscular atrophy in Italian population
2014 · FRANCESCO CALÌ, GIUSEPPA RUGGERI, et al. · Journal of Genetics · 28
BIT-mapped somatosensory evoked potentials in the fragile X syndrome
1994 · R Ferri, SA Musumeci, et al. · Neurophysiologie Clinique · 25
Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic
2023 · Vincenzo Di Stefano, Antonino Lupica, et al. · European Journal of Neurology · 24
The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
2015 · Carmela Scuderi, Eugenia Borgione, et al. · Neuromuscular Disorders · 24
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis
2004 · Michele Falco, Carmela Scuderi, et al. · Neuromuscular Disorders · 22
Eyelid myoclonia with absences in three subjects with mental retardation
2000 · C. Scuderi, S.A. Musumeci, et al. · Neurological Sciences · 22
Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients
1995 · M. Elia, S. A. Musumeci, et al. · The Italian Journal of Neurological Sciences · 20
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome
1995 · Sebastiano Antonino Musumeci, Maurizio Elia, et al. · Brain and Development · 19
Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome
1994 · S. A. Musumeci, M. Elia, et al. · The Italian Journal of Neurological Sciences · 19
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
2022 · Elisa Calì, Sheng-Jia Lin, et al. · Genetics in Medicine · 17
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Works count: 69
Citation count: 1,957
H-index: 21
I10-index: 35
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