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P. Alfieri · SciRah

Researcher profile · Semantic Scholar

P. Alfieri

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P. Alfieri — researcher profile on SciRah

h-index: 25
Works: 96
Citations: 1,754

Most-cited papers

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
M. Pane, M. E. Lombardo, P. Alfieri, A. D'Amico +12 more
2012Jornal de Pediatria171 citations
Semantic Scholar
Daily salbutamol in young patients with SMA type II.
M. Pane, S. Staccioli, S. Messina, A. D'Amico +10 more
2008Neuromuscular Disorders121 citations
Semantic Scholar
The use of actigraphy in the monitoring of sleep and activity in ADHD: A meta-analysis.
F. De Crescenzo, Serena Licchelli, M. Ciabattini, D. Menghini +8 more
2016Sleep Medicine Reviews115 citations Open access
Semantic Scholar
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade
L. Cesarini, P. Alfieri, F. Pantaleoni, I. Vasta +10 more
2009American Journal of Medical Genetics. Part A102 citations
Semantic Scholar
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
C. Fusco, L. Micale, B. Augello, M. Pellico +8 more
2013European Journal of Human Genetics82 citations Open access
Semantic Scholar
Behavioral Profile in RASopathies
P. Alfieri, Giorgia Piccini, C. Caciolo, F. Perrino +12 more
2014American Journal of Medical Genetics. Part A81 citations
Semantic Scholar
Early neurodevelopmental assessment in Duchenne muscular dystrophy.
M. Pane, R. Scalise, A. Berardinelli, G. D'Angelo +23 more
2013Neuromuscular Disorders79 citations
Semantic Scholar
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.
R. Battini, D. Chieffo, S. Bulgheroni, Giorgia Piccini +12 more
2017Neuromuscular Disorders65 citations
Semantic Scholar
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations
Adriana Lo-Castro, F. Brancati, M. Digilio, F. Garaci +3 more
2013American Journal of Medical Genetics Part B: Neuropsychiatric Genetics46 citations
Semantic Scholar
Psychopathological features in Noonan syndrome.
F. Perrino, Serena Licchelli, G. Serra, Giorgia Piccini +9 more
2018European journal of paediatric neurology41 citations
Semantic Scholar
Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study
D. Chieffo, Claudia Brogna, A. Berardinelli, G. D'Angelo +5 more
2015PLoS ONE39 citations Open access
Semantic Scholar
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
A. R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, S. Bertelli +35 more
2021American Journal of Human Genetics37 citations Open access
Semantic Scholar
Cognitive, adaptive, and behavioral features in Joubert syndrome
S. Bulgheroni, S. D'Arrigo, S. Signorini, M. Briguglio +12 more
2016American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Enhanced human brain associative plasticity in Costello syndrome
M. Dileone, P. Profice, F. Pilato, P. Alfieri +7 more
2010Journal of Physiology36 citations Open access
Semantic Scholar
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X‐Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo‐Epiphyseal Dysplasia
G. Zanni, V. Kalscheuer, A. Friedrich, S. Barresi +11 more
2015Human Mutation34 citations Open access
Semantic Scholar
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
S. Barresi, M. Niceta, P. Alfieri, V. Brankovic +7 more
2017Clinical Genetics33 citations
Semantic Scholar
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
F. Nicita, M. Nardella, E. Bellacchio, P. Alfieri +7 more
2019Clinical Genetics31 citations
Semantic Scholar
Neurobehavioral features in individuals with Kabuki syndrome
C. Caciolo, P. Alfieri, Giorgia Piccini, M. Digilio +4 more
2018Molecular Genetics & Genomic Medicine30 citations Open access
Semantic Scholar
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
M. Dentici, S. Barresi, M. Nardella, E. Bellacchio +9 more
2017Gene30 citations Open access
Semantic Scholar
Long Term Memory Profile of Disorders Associated with Dysregulation of the RAS-MAPK Signaling Cascade
P. Alfieri, L. Cesarini, Maria Mallardi, Giorgia Piccini +10 more
2011Behavior Genetics30 citations
Semantic Scholar
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
S. Vicari, Giorgia Piccini, E. Mercuri, R. Battini +13 more
2018PLoS ONE29 citations Open access
Semantic Scholar
Cortical visual function in preterm infants in the first year.
D. Ricci, L. Cesarini, F. Gallini, F. Serrao +21 more
2010Jornal de Pediatria28 citations
Semantic Scholar
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
F. Lepri, D. Cocciadiferro, B. Augello, P. Alfieri +12 more
2017International Journal of Molecular Sciences27 citations Open access
Semantic Scholar
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics
A. Sferra, S. Petrini, E. Bellacchio, F. Nicita +6 more
2020International Journal of Molecular Sciences26 citations Open access
Semantic Scholar
Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment.
R. Battini, S. Lenzi, S. Lucibello, D. Chieffo +11 more
2021Neuromuscular Disorders25 citations
Semantic Scholar
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
M. Macchiaiolo, F. M. Panfili, D. Vecchio, M. Gonfiantini +11 more
2022Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell‐Derived Neurons With Oligophrenin‐1 Loss of Function
C. Compagnucci, S. Barresi, S. Petrini, P. Billuart +5 more
2016Stem Cells Translational Medicine22 citations Open access
Semantic Scholar
Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity
P. Alfieri, L. Cesarini, P. De Rose, D. Ricci +10 more
2011American Journal of Medical Genetics. Part A21 citations
Semantic Scholar
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Fabrizia Stregapede, L. Travaglini, A. Rebelo, V. Cintra +7 more
2019Clinical Genetics15 citations
Semantic Scholar
Learning by observation and learning by doing in Down and Williams syndromes.
F. Foti, D. Menghini, P. Alfieri, F. Costanzo +3 more
2018Developmental Science15 citations
Semantic Scholar
A comparison between linguistic skills and socio‐communicative abilities in Williams syndrome
P. Alfieri, D. Menghini, Luigi Marotta, L. De Peppo +4 more
2017Journal of Intellectual Disability Research15 citations
Semantic Scholar
Developmental lag of visuospatial attention in Duchenne muscular dystrophy.
Giorgia Piccini, S. Gazzellini, A. D'Amico, M. Pane +3 more
2015Research in Developmental Disabilities14 citations
Semantic Scholar
Congenital heart defects in molecularly confirmed KBG syndrome patients
M. C. Digilio, G. Calcagni, Maria Gnazzo, P. Versacci +13 more
2021American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome
P. Alfieri, M. Macchiaiolo, M. Collotta, F. A. M. Montanaro +13 more
2022Journal of Clinical Medicine12 citations Open access
Semantic Scholar
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
M. Dentici, P. Bergonzini, F. Scibelli, C. Caciolo +12 more
2020Brain Science12 citations Open access
Semantic Scholar
Clinical and individual features associated with maternal stress in young adolescents with autism spectrum disorder
F. Scibelli, E. Fucà, S. Guerrera, E. Lupi +3 more
2021Autism Research11 citations
Semantic Scholar
Increased Sleep Spindle Activity in Patients With Costello Syndrome (HRAS Gene Mutation)
G. Della Marca, C. Leoni, S. Dittoni, D. Battaglia +9 more
2011Journal of clinical neurophysiology11 citations
Semantic Scholar
Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome
P. Alfieri, F. Demaria, Serena Licchelli, Ornella Santonastaso +8 more
2019Brain Science10 citations Open access
Semantic Scholar
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome
P. Alfieri, F. Cumbo, G. Serra, Monia Trasolini +11 more
2021Brain Science9 citations Open access
Semantic Scholar
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
A. Maiorana, S. Caviglia, Benedetta Greco, P. Alfieri +6 more
2021Orphanet Journal of Rare Diseases9 citations Open access
Semantic Scholar
Comparison of Adaptive Functioning in Children with Williams Beuren Syndrome and Autism Spectrum Disorder: A Cross‐Syndrome Study
P. Alfieri, F. Scibelli, M. Digilio, R. Novello +3 more
2020Autism Research9 citations
Semantic Scholar
Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome
S. Vicari, F. Costanzo, M. Armando, G. Carbonara +7 more
20169 citations Open access
Semantic Scholar
Visual and visuoperceptual function in children with Panayiotopoulos syndrome
P. De Rose, F. Perrino, D. Lettori, P. Alfieri +5 more
2010Epilepsia9 citations
Semantic Scholar
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams–Beuren Syndrome: A Longitudinal Study
P. Alfieri, F. Scibelli, F. A. M. Montanaro, M. Digilio +3 more
2022Genes8 citations Open access
Semantic Scholar
Cooperative Parent-Mediated Therapy in Children with Fragile X Syndrome and Williams Beuren Syndrome: A Pilot RCT Study of a Transdiagnostic Intervention-Preliminary Data
P. Alfieri, F. Scibelli, L. Casula, Simone Piga +3 more
2021Brain Science8 citations Open access
Semantic Scholar
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases
P. Alfieri, Francesco Scibelli, L. Sinibaldi, G. Valeri +6 more
2020Genes, Brain and Behavior8 citations Open access
Semantic Scholar
Effect of homotaurine in patients with cognitive impairment: Results from an Italian observational retrospective study
A. Martorana, C. Motta, G. Koch, M. Massaia +27 more
20188 citations
Semantic Scholar
POU3F3-related disorder: defining the phenotype and expanding the molecular spectrum
Alessandra Rossi, L. S. Blok, S. Neuser, Chiara Klöckner +39 more
2023Clinical Genetics7 citations Open access
Semantic Scholar
Genotype–phenotype spectrum and correlations in Xia‐Gibbs syndrome: Report of five novel cases and literature review
F. Romano, Mariateresa Falco, G. Cappuccio, N. Brunetti-Pierri +14 more
2022Birth Defects Research7 citations Open access
Semantic Scholar
Defining language disorders in children and adolescents with Noonan Syndrome
G. Lazzaro, C. Caciolo, D. Menghini, F. Cumbo +6 more
2020Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar

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S. Vicari×23
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M. Tartaglia×17
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M. Digilio×15
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E. Mercuri×14
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Giorgia Piccini×12

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M. Pane — researcher profile on SciRah

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