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I.R.C.C.S. Oasi Maria SS: Troina, Enna, IT

2001-03-08 to present | High Specializzation in Movement Disorders and Botulin Toxin treatment (Pediatric Neurology)
Employment
Source: Self-asserted source
G A Vitello

Works (24)

PPP2R5E: New gene potentially involved in specific learning disorders and myopathy

Gene
2024-09-14 | Journal article
Part of ISSN: 0378-1119
Contributors: Antonino Musumeci; Mirella Vinci; Iris Verbinnen; Simone Treccarichi; Eleonora Nigliato; Valeria Chiavetta; Donatella Greco; Girolamo Aurelio Vitello; Concetta Federico; Veerle Janssens et al.
Source: Self-asserted source
G A Vitello

<i>PLEKHG1</i>: New Potential Candidate Gene for Periventricular White Matter Abnormalities

Genes
2024-08 | Journal article | Author
Contributors: Francesco Cali; Mirella Vinci; Simone treccarichi; Carla Papa; Gloria A; Antonino Musumeci; Concetta Federico; G A Vitello; Antonio Gennaro Nicotera; Gabriella Di Rosa et al.
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Multidisciplinary Digital Publishing Institute
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Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

Current Issues in Molecular Biology
2024-01-29 | Journal article
Contributors: Mirella Vinci; Girolamo Vitello; Donatella Greco; Simone Treccarichi; Alda Ragalmuto; Antonino Musumeci; Antonio Fallea; Concetta Federico; Francesco Calì; Salvatore Saccone et al.
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Crossref
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Interdisciplinary Multidimensional Assessment of Transthyretin Amyloidosis before and after Tafamidis

Life
2023-12-07 | Journal article
Contributors: Manuela Pennisi; Giuseppe Lanza; Girolamo Vitello; Denise Faro; Francesco Fisicaro; Francesco Cappellani; Rita Bella; Ines Monte
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Crossref

Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability

Research in Autism Spectrum Disorders
2023-02 | Journal article
Part of ISSN: 1750-9467
Contributors: Carmela Scuderi; Sandro Santa Paola; Mariangela Lo Giudice; Francesco Domenico Di Blasi; Stefania Giusto; Giuseppa Di Vita; Rosa Pettinato; G A Vitello; Corrado Romano; Serafino Buono et al.
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G A Vitello
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PHF21A Related Disorder: Description of a New Case

International Journal of Molecular Sciences
2022-12-17 | Journal article
Contributors: Ambra Butera; Antonio Gennaro Nicotera; Gabriella Di Rosa; Sebastiano Antonino Musumeci; Girolamo Aurelio Vitello; Antonino Musumeci; Mirella Vinci; Angelo Gloria; Concetta Federico; Salvatore Saccone et al.
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Crossref
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Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy

Biomedicines
2022-09 | Journal article | Author
Contributors: Antonino Musumeci; Francesco Cali; Carmela Scuderi; Mirella Vinci; G A Vitello; Sebastiano Antonino Musumeci; Valeria Chiavetta; Concetta FEDERICO; Greta Amore; Salvatore Saccone et al.
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Multidisciplinary Digital Publishing Institute
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Allelic Variations in the Human Genes <i>TMPRSS2</i> and <i>CCR5,</i> and the Resistance to Viral Infection by SARS-CoV-2

International Journal of Molecular Sciences
2022-08 | Journal article | Author
Contributors: G A Vitello; Concetta FEDERICO; Francesca Bruno; Mirella Vinci; Antonino Musumeci; Alda Ragalmuto; Valentina Sturiale; Desiree Brancato; Francesco Cali; Salvatore Saccone
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Multidisciplinary Digital Publishing Institute
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Impact of daytime routine modifications on people with severe intellectual disability amid COVID-19 pandemic

Perspectives in Psychiatric Care
2021 | Journal article
Contributors: Vetri, Luigi; Elia, Maurizio; Vitello, Girolamo Aurelio; Greco, Donatella; Gagliano, Catalda; Costanzo, Maria Cristina; Romeo, Giusi; Musumeci, Sebastiano Antonino
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Web of Science Researcher Profile Sync

Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs

Brain Sciences
2021-09-29 | Journal article
Contributors: Antonio Gennaro Nicotera; Gabriella Di Rosa; Laura Turriziani; Maria Cristina Costanzo; Emanuela Stracuzzi; Girolamo Aurelio Vitello; Rosanna Galati Rando; Antonino Musumeci; Mirella Vinci; Sebastiano Antonino Musumeci et al.
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Crossref
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Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation

Journal of Musculoskeletal and Neuronal Interactions
2020 | Journal article
Contributors: Vitello, Girolamo A.; Cali, Francesco; Vinci, Mirella; Scuderi, Carmela; L'Episcopo, Francesca; Musumeci, Antonino; Musumeci, Sebastiano A.; Nicotera, Antonio G.
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Web of Science Researcher Profile Sync

Novel compound heterozygous mutation in <i>NPC1</i> gene cause Niemann-Pick disease type C with juvenile onset.

Journal of genetics
2020-01-01 | Journal article
Source: Self-asserted source
G A Vitello

Novel c.C2254T (p.Q752*) mutation in <i>ZFYVE26</i> (SPG15) gene in a patient with hereditary spastic paraparesis

Journal of Genetics
2018 | Journal article
Contributors: Vinci, Mirella; Fichera, Marco; Musumeci, Sebastiano Antonino; Cali, Francesco; Vitello, Girolamo Aurelio
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Web of Science Researcher Profile Sync

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

Neuromuscular Disorders
2015 | Journal article
EID:

2-s2.0-84925253004

Contributors: Scuderi, C.; Borgione, E.; Castello, F.; Lo Giudice, M.; Santa Paola, S.; Giambirtone, M.; Di Blasi, F.D.; Elia, M.; Amato, C.; Città, S. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Carrier screening for spinal muscular atrophy in Italian population

Journal of Genetics
2014 | Journal article
EID:

2-s2.0-84903200821

Contributors: Calì, F.; Ruggeri, G.; Chiavetta, V.; Scuderi, C.; Bianca, S.; Barone, C.; Ragalmuto, A.; Schinocca, P.; Vitello, G.A.; Romano, V. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

American Journal of Medical Genetics, Part A
2014 | Journal article
EID:

2-s2.0-84910594695

Contributors: Snijders Blok, C.; Corsten-Janssen, N.; Fitzpatrick, D.R.; Romano, C.; Fichera, M.; Vitello, G.A.; Willemsen, M.H.; Schoots, J.; Pfundt, R.; van Ravenswaaij-Arts, C.M.A. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

6p22.3 deletion: Report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Molecular Cytogenetics
2013 | Journal article
EID:

2-s2.0-84872278262

Contributors: Di Benedetto, D.; Di Vita, G.; Romano, C.; Lo Giudice, M.; Vitello, G.A.; Zingale, M.; Grillo, L.; Castiglia, L.; Musumeci, S.A.; Fichera, M.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

Journal of Medical Genetics
2013 | Journal article
EID:

2-s2.0-84890207463

Contributors: Schuurs-Hoeijmakers, J.H.M.; Vulto-Van Silfhout, A.T.; Vissers, L.E.L.M.; Van De Vondervoort, I.I.G.M.; Van Bon, B.W.M.; De Ligt, J.; Gilissen, C.; Hehir-Kwa, J.Y.; Neveling, K.; Del Rosario, M. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)

Epileptic Disorders
2011 | Journal article
EID:

2-s2.0-84856398978

Contributors: Broli, M.; Bisulli, F.; Mastrangelo, M.; Fontana, E.; Fiocchi, I.; Zucca, C.; Bonaglia, M.C.; Buono, S.; Musumeci, S.A.; Romano, C. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

0-6 A muscle biopsy study in patient with autism spectrum Disorders and neuromuscular clinical signs

Acta myologica official journal of the Mediterranean Society of Myology
2011-09 | Book chapter
Contributors: Eugenia borgione; Carmela Scuderi ; F. Castello ; Stefania Giusto ; Mariangela Lo Giidice; G. Barbarino; Giuseppa Di Vita; Rossella Pettinato; GA Vitello ; Francesco Domenico Di Blasi et al.
Source: Self-asserted source
G A Vitello

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Mitochondrion
2010 | Journal article
EID:

2-s2.0-77955415711

Contributors: Scuderi, C.; Borgione, E.; Castello, F.; Giudice, M.L.; Fichera, M.; Elia, M.; Amato, C.; Savio, M.; Blasi, F.D.D.; Vitello, G.A. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

American Journal of Human Genetics
2009 | Journal article
EID:

2-s2.0-69649094812

Contributors: Giorda, R.; Bonaglia, M.C.; Beri, S.; Fichera, M.; Novara, F.; Magini, P.; Urquhart, J.; Sharkey, F.H.; Zucca, C.; Grasso, R. et al.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier

Posterior fossa abnormalities in Hereditary spastic paraparesis with spastin mutations

Journal of Neurology, Neurosurgery and Psychiatry
2009 | Journal article
EID:

2-s2.0-64749110868

Contributors: Scuderi, C.; Fichera, M.; Calabrese, G.; Elia, M.; Amato, C.; Savio, M.; Borgione, E.; Vitello, G.A.; Musumeci, S.A.
Source: Self-asserted source
G A Vitello via Scopus - Elsevier
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M.P.1.11 Homoplasmic point mutations in mitochondrial tRNA genes in patients with encephalomyopathy

Neuromuscular Disorders
2007-10 | Journal article
Part of ISSN: 0960-8966
Contributors: E. Borgione; C. Scuderi; F. Castello; M. Elia; G. Vitello; S. Musumeci
Source: Self-asserted source
G A Vitello
grade
Preferred source (of 2)‎