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A. Romano · SciRah

Researcher profile · Semantic Scholar

A. Romano

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A. Romano — researcher profile on SciRah

h-index: 16
Works: 60
Citations: 1,221

Most-cited papers

Gastrointestinal manifestations in children with cerebral palsy.
E. Giudice, A. Staiano, G. Capano, A. Romano +5 more
1999Brain & development (Tokyo. 1979)248 citations
Semantic Scholar
Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy.
A. Campanozzi, G. Capano, E. Miele, A. Romano +5 more
2007Brain & development (Tokyo. 1979)120 citations
Semantic Scholar
Diagnosis delay in West syndrome: misdiagnosis and consequences
S. Auvin, A. Hartman, B. Desnous, Anne-Christine Moreau +7 more
2012European Journal of Pediatrics88 citations
Semantic Scholar
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
G. Parenti, Simona Fecarotta, G. la Marca, Barbara Rossi +18 more
2014Molecular Therapy86 citations Open access
Semantic Scholar
Steroid‐induced improvement of neurological signs in ataxia‐telangiectasia patients
T. Broccoletti, E. Del Giudice, Stefania Amorosi, Ilaria Russo +4 more
2008European Journal of Neurology60 citations
Semantic Scholar
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
Simona Fecarotta, A. Romano, R. Della Casa, E. Del Giudice +23 more
2015Orphanet Journal of Rare Diseases59 citations Open access
Semantic Scholar
Long-Term Enzyme Replacement Therapy for Pompe Disease With Recombinant Human Alpha-glucosidase Derived From Chinese Hamster Ovary Cells
M. Rossi, G. Parenti, R. Della Casa, A. Romano +6 more
2007Journal of Child Neurology58 citations
Semantic Scholar
Brain damage in glycogen storage disease type I.
D. Melis, G. Parenti, R. Della Casa, M. Sibilio +9 more
2004Jornal de Pediatria43 citations
Semantic Scholar
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat
Simona Fecarotta, M. Amitrano, A. Romano, R. Della Casa +4 more
2011American Journal of Medical Genetics. Part A37 citations
Semantic Scholar
Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
M. Cerbone, Jun Wang, S. M. van der Maarel, A. D’Amico +3 more
2012American Journal of Medical Genetics. Part A35 citations Open access
Semantic Scholar
Upper gastrointestinal tract motility in children with progressive muscular dystrophy.
A. Staiano, E. Del Giudice, A. Romano, M. R. Andreotti +5 more
1992Jornal de Pediatria35 citations
Semantic Scholar
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
R. Fischetto, Valentina Palladino, M. Mancardi, Thea Giacomini +12 more
2020Molecular Genetics & Genomic Medicine23 citations Open access
Semantic Scholar
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
L. Titomanlio, D. De Brasi, A. Romano, R. Genesio +2 more
2006Acta paediatrica23 citations
Semantic Scholar
The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac disease
G. Terrone, I. Parente, A. Romano, R. Auricchio +2 more
2013Acta paediatrica22 citations
Semantic Scholar
Functional Gastrointestinal Disorders in Migrainous Children: Efficacy of Flunarizine
G. Boccia, E. Del Giudice, A. Crisanti, C. Strisciuglio +2 more
2006Cephalalgia21 citations Open access
Semantic Scholar
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
G. Terrone, A. D’Amico, F. Imperati, M. Carella +8 more
2012European Journal of Medical Genetics18 citations
Semantic Scholar
Early Intervention for Children With Down Syndrome in Southern Italy: The Role of Parent‐implemented Developmental Training
E. Del Giudice, L. Titomanlio, G. Brogna, A. Bonaccorso +6 more
200616 citations
Semantic Scholar
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry
G. Limongelli, Stefano Iucolano, E. Monda, Pasquale Elefante +118 more
2021Journal of public health15 citations Open access
Semantic Scholar
Unexplained bilateral occipital calcification and reduced vision.
E. Del Giudice, L. Pelosi, A. Romano, P. D. de Bellis +5 more
1984Neuropediatrics15 citations
Semantic Scholar
Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.
D. Melis, L. Perone, M. P. Sperandeo, Maria Simona Sabbatino +4 more
1998Journal of Medical Genetics14 citations Open access
Semantic Scholar
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
G. Terrone, Francesca Marchese, M. S. Vari, M. Severino +7 more
2020Seizure13 citations Open access
Semantic Scholar
Familial occurrence of early-onset childhood absence epilepsy.
L. Titomanlio, A. Romano, G. Bellini, A. Pascotto +3 more
2007European journal of paediatric neurology12 citations
Semantic Scholar
Congenital Fiber Type Disproportion Myopathy
Lucio Santoro, E. Del Giudice, Domenico Francica, A. Romano +2 more
198512 citations
Semantic Scholar
Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
V. Ventruto, R. Di Girlamo, B. Festa, A. Romano +2 more
1976Journal of Medical Genetics12 citations Open access
Semantic Scholar
Clinical Value of Perfusion Abnormalities of Brain on Technetium-99m HMPAO Single-Photon Emission Computed Tomography in Children With Sydenham Chorea
S. M. D. A. Giorgio, M. G. Caprio, F. Galante, G. Russo +4 more
2017Journal of Child Neurology11 citations
Semantic Scholar
Megalocornea and mental retardation syndrome: two new cases.
E. Del Giudice, R. Sartorio, A. Romano, R. Carrozzo +1 more
1987American journal of medical genetics11 citations
Semantic Scholar
Developmental evolution in a patient with multiple acyl-coenzymeA dehydrogenase deficiency under pharmacological treatment.
M. Rosa, A. Pascarella, G. Parenti, S. Buono +6 more
2012European journal of paediatric neurology10 citations
Semantic Scholar
Mild Wolf–Hirschhorn phenotype and partial gh deficiency in a patient with a 4p terminal deletion
L. Titomanlio, A. Romano, A. Conti, R. Genesio +4 more
2004American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, T. Biagini +24 more
2023Journal of Medical Genetics9 citations Open access
Semantic Scholar
Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder
G. Terrone, M. Ruoppolo, N. Brunetti-Pierri, Carla Cozzolino +6 more
2014Neurology9 citations Open access
Semantic Scholar
Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy
Simona Fecarotta, Serena Ascione, Giuseppe Montefusco, R. Della Casa +5 more
2013Italian Journal of Pediatrics8 citations Open access
Semantic Scholar
Epilepsy in inherited metabolic disorders: a pediatric series.
G. Vitiello, V. De Clemente, R. Della Casa, A. Romano +5 more
2012Minerva Pediatrica8 citations
Semantic Scholar
De novo 13q12.3–q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A‐T like phenotype
E. Cirillo, R. Romano, A. Romano, G. Giardino +9 more
2012American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
Familial White Matter Hypoplasia, Agenesis of the Corpus Callosum, Mental Retardation and Growth Deficiency: A New Distinctive Syndrome
P. Curatolo, M. Cilio, E. Del Giudice, A. Romano +2 more
1993Neuropediatrics8 citations
Semantic Scholar
Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1
L. Titomanlio, Nicolás Pierri, A. Romano, F. Imperati +6 more
2005American Journal of Medical Genetics. Part A7 citations
Semantic Scholar
Short duration outpatient video electroencephalographic monitoring: the experience of a southern-Italian general pediatric department.
E. Del Giudice, A. Crisanti, A. Romano
2002Epileptic disorders7 citations
Semantic Scholar
A Novel Splicing SCN2A Mutation in an Adolescent With Low-Functioning Autism, Acute Dystonic Movement Disorder, and Late-Onset Generalized Epilepsy.
M. Alagia, Simona Fecarotta, A. Romano, E. Parrini +3 more
2022Pediatric Neurology4 citations
Semantic Scholar
Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder
M. Alagia, G. Cappuccio, A. Torella, A. D’Amico +6 more
2020JIMD Reports4 citations Open access
Semantic Scholar
Cerebellar agenesis
L. Titomanlio, A. Romano, E. Del Giudice
2005Neurology4 citations Open access
Semantic Scholar
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant.
M. L. De Bernardi, Agnese Di Stazio, A. Romano, R. Minardi +7 more
2022European Journal of Medical Genetics3 citations
Semantic Scholar
Smith Lemli-Opitz syndrome: a contribution to the delineation of a cognitive/behavioral phenotype.
V. De Clemente, G. Vitiello, F. Imperati, A. Romano +5 more
2013Minerva Pediatrica3 citations
Semantic Scholar
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophy.
G. Cappuccio, N. Brunetti-Pierri, G. Terrone, A. Romano +2 more
2013JIMD Reports3 citations Open access
Semantic Scholar
EEG findings in West syndrome a follow-up of 20 patients.
G. Vacca, F. D. de Falco, S. Natale, E. Del Giudice +3 more
1992Acta neurologica3 citations
Semantic Scholar
Taylor-type focal cortical dysplasia: is the epilepsy always resistant to medical treatment?
E. Del Giudice, M. Bianchi, M. Tosetti, A. Varrone +4 more
2006Epileptic disorders2 citations
Semantic Scholar
Partial cerebellar hypoplasia in a patient with Prader‐Willi syndrome
L. Titomanlio, D. Brasi, A. Romano, R. Genesio +2 more
20062 citations
Semantic Scholar
Isolated eye-lid ptosis as initial manifestation of pediatric Behcet's Disease (BD)
Maria Alessio, R. Indaco, R. Carlomagno, A. Romano
2008Pediatric Rheumatology Online Journal1 citations Open access
Semantic Scholar
Congenital fiber type disproportion myopathy. Report of a case with late onset and myalgia.
L. Santoro, E. Del Giudice, D. Francica, A. Romano +2 more
1985La Clinica pediatrica1 citations
Semantic Scholar
Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein–associated neurodegeneration
A. D’Amico, A. Romano, E. Parrini, L. Ugga +1 more
2021Neurological Sciences0 citations
Semantic Scholar
PP42 ASYMPTOMATIC HYPERTRANSAMINASEMIA: A STILL POORLY RECOGNIZED MARKER OF EARLY DUCHENNE/BECKER MUSCULAR DYSTROPHY
C. Veropalumbo, S. Maddaluno, N. di Cosmo, I. De Micco +6 more
20110 citations
Semantic Scholar
MOLECULAR ANALYSIS OF THE MCPH1 GENE IN PATIENTS WITH MICROCEPHALIA VERA
Iris Scala, L. Titomanlio, P. Annunziata, Pasquale Piccolo +8 more
20080 citations
Semantic Scholar

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