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Alda Ragalmuto
Observed names:
A. Ragalmuto,
ALDA RAGALMUTO
Institution:
I.R.C.C.S. Oasi Maria SS
Observed institutions:
Oasi Maria SS,
I.R.C.C.S. Oasi Maria SS
ORCID:
0000-0002-7399-964X
Observed ORCID:
0000-0002-7399-964X
OpenAlex ID:
A5071544528
Methylation analysis of multiple genes in blood DNA of Alzheimer’s disease and healthy individuals
2015
·
Pierpaola Tannorella
, Andrea Stoccoro
, et al.
·
Neuroscience Letters
·
75
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2016
·
Francesco Calì
, Valeria Chiavetta
, et al.
·
European Journal of Medical Genetics
·
33
Carrier screening for spinal muscular atrophy in Italian population
2014
·
FRANCESCO CALÌ
, GIUSEPPA RUGGERI
, et al.
·
Journal of Genetics
·
28
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy)
2003
·
V. Romano
, F. Calì
, et al.
·
Annals of Human Genetics
·
20
Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson’s Disease
2018
·
Francesco Cali
, Mariagiovanna Cantone
, et al.
·
Journal of Parkinson s Disease
·
16
PDF
Dissecting the Genetic Contribution of Tooth Agenesis
2025
·
Antonio Fallea
, Mirella Vinci
, et al.
·
International Journal of Molecular Sciences
·
13
PDF
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
2010
·
Francesco Calì
, Giuseppa Ruggeri
, et al.
·
Experimental & Molecular Medicine
·
13
PDF
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation
2006
·
Maria Antonietta Di Bella
, Francesco Calì
, et al.
·
American Journal of Medical Genetics Part B Neuropsychiatric Genetics
·
13
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy
2024
·
Mirella Vinci
, Girolamo Vitello
, et al.
·
Current Issues in Molecular Biology
·
9
PDF
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2
2022
·
Girolamo Aurelio Vitello
, Concetta Federico
, et al.
·
International Journal of Molecular Sciences
·
8
PDF
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
2010
·
Francesco Calì
, Alda Ragalmuto
, et al.
·
Experimental & Molecular Medicine
·
7
PDF
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders
2025
·
Mirella Vinci
, Antonino Musumeci
, et al.
·
International Journal of Molecular Sciences
·
6
PDF
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities
2021
·
Antonino Musumeci
, Mirella Vinci
, et al.
·
International Journal of Environmental Research and Public Health
·
6
PDF
Killer-specific secretory (Ksp37) gene expression in subjects with Down’s syndrome
2016
·
Michele Salemi
, Concetta Barone
, et al.
·
Neurological Sciences
·
6
NF-kB1 gene expression in Down syndrome patients
2014
·
Michele Salemi
, Concetta Barone
, et al.
·
Neurological Sciences
·
6
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome
2013
·
F. Calì
, P. Failla
, et al.
·
Genetics and Molecular Research
·
6
PDF
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders
2024
·
Simone Treccarichi
, Francesco Calì
, et al.
·
Current Issues in Molecular Biology
·
5
PDF
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis
2025
·
Antonino Musumeci
, Mirella Vinci
, et al.
·
Genes
·
3
CCR3 gene overexpression in patients with Down syndrome
2021
·
Michele Salemi
, Rossella Cannarella
, et al.
·
Molecular Biology Reports
·
3
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism: Istanbul, Turkey, 31 August– 3 September 2010
2010
·
CARDUCCI, Carla
, POZZESSERE, SIMONE
, et al.
·
Journal of Inherited Metabolic Disease
·
3
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders
2026
·
Francesco Calì
, Simone Treccarichi
, et al.
·
International Journal of Molecular Sciences
·
2
PDF
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
2013
·
F. Calì
, V. Chiavetta
, et al.
·
Genetics and Molecular Research
·
1
PDF
Exon deletions of the PAH gene in Italian hyperphenylalaninemics
2010
·
Valentino Romano
, Mirella Vinci
, et al.
·
Experimental & Molecular Medicine
·
1
Deciphering the Role of LNX2 as a Potential Contributor to Neurodevelopmental Disorders
2026
·
Mirella Vinci
, Maria Grazia Figura
, et al.
·
Genes
PDF
A Multiplex PCR-Based Next-Generation Sequencing Approach Has Detected a Common Large Deletion in STS Gene in a Patient with X-Linked Ichthyosis
2016
·
Francesco Calì
, Giuseppa Maria Luana Mandarà
, et al.
·
Journal of Biomedical Science and Engineering
PDF
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Works count:
32
Citation count:
283
H-index:
9
I10-index:
8
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