Impaired physical function in patients with idiopathic inflammatory myopathies: results from the multicentre COVAD patient-reported e-survey
2023-01-01 Syahrul Sazliyana Shaharir, 1; Azmawati Mohammed Nawi, 2; Theepa Nesam Mariamutu, 1; Lydia Kamaruzaman, 1; Mohd Shahrir Mohamed Said, 1; Sakthiswary Rajalingham, 1; Ioannis Parodis, 3 4; Manali Sarkar, 5; Samuel Katsuyuki Shinjo, 6; Esha Kadam, 7; Nelly Ziade, 8 9; Chou Luan Tan 10, 11; Francis Gullemin 12, 13; Carlo Vincio Caballero-Uribe, 14; Ai Lyn Tan 15, 16; Laura Andreoli 17, 18; Jasmine Parihar, 19; Praggya Yaadav, 20; Sreoshy Saha, 21; Sambataro, G; Among The Covad Study, Group; Latika Gupta 22 23, Vikas Agarwal 24
Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant
2025-01-01 Messina, C.; Gulizia, S.; Scalia, F.; Borgione, E.; Cappello, F.; Brighina, F.; Di Stefano, V.
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome
2013-01-01 Calì, F.; Failla, P.; Chiavetta, V.; Ragalmuto, A.; Ruggeri, G.; Schinocca, P.; Schepis, C.; Romano, V.; Romano, C.
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
2013-01-01 Calì, F.; Chiavetta, V.; Ragalmuto, A.; Vinci, M.; Ruggeri, G.; Schinocca, P.; Romano, V.
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics
2010-01-01 Calì, Francesco; Ruggeri, Giuseppa; Vinci, Mirella; Meli, Concetta; Carducci, Carla; Leuzzi, Vincenzo; Pozzessere, Simone; Schinocca, Pietro; Ragalmuto, Alda; Chiavetta, Valeria; Miccichè, Salvatore; Romano, Valentino
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review
2021-01-01 Romano, Valentino; Catalano, Giulio; Bazan, Giuseppe; Calì, Francesco; Sineo, Luca
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants
2025-01-01 Greco, Vittoria; Greco, Donatella; Treccarichi, Simone; Bottitta, Maria; Failla, Pinella; Musumeci, Antonino; Papa, Carla; Chiavetta, Valeria; Calì, Francesco; Vinci, Mirella
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant
2025-01-01 Calì, Francesco; Virgillito, Miriam; Treccarichi, Simone; Musumeci, Antonino; Failla, Pinella; Papa, Carla; Galati Rando, Rosanna; Federico, Concetta; Saccone, Salvatore; Vinci, Mirella
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders
2025-01-01 Vinci, Mirella; Musumeci, Antonino; Papa, Carla; Ragalmuto, Alda; Saccone, Salvatore; Federico, Concetta; Greco, Donatella; Greco, Vittoria; Calì, Francesco; Treccarichi, Simone
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits
2025-01-01 Musumeci, Antonino; Vinci, Mirella; Treccarichi, Simone; Greco, Donatella; Rizzo, Biagio; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Musumeci, Sebastiano Antonino; Calì, Francesco
PHF21A Related Disorder: Description of a New Case
2022-01-01 Butera, Ambra; Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino; Vitello, Girolamo Aurelio; Musumeci, Antonino; Vinci, Mirella; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Calì, Francesco
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
2021-01-01 Musumeci, Antonino; Vinci, Mirella; L'Episcopo, Francesca; Ragalmuto, Alda; Neri, Vincenzo; Roccella, Michele; Quatrosi, Giuseppe; Vetri, Luigi; Calì, Francesco
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis
2025-01-01 Musumeci, Antonino; Vinci, Mirella; Treccarichi, Simone; Ragalmuto, Alda; Bruno, Giuseppe; Tinniriello, Giordana; Farina, Jessica; Federico, Concetta; Saccone, Salvatore; Calì, Francesco; Porru, Daniele
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders
2024-01-01 Vinci, Mirella; Greco, Donatella; Figura, Maria Grazia; Treccarichi, Simone; Musumeci, Antonino; Greco, Vittoria; Pettinato, Rossella; Gloria, Angelo; Papa, Carla; Saccone, Salvatore; Federico, Concetta; Calì, Francesco
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms
2024-01-01 Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Chiavetta, Valeria; Figura, Maria Grazia; Musumeci, Antonino; Greco, Vittoria; Federico, Concetta; Calì, Francesco; Saccone, Salvatore
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways
2024-01-01 Treccarichi, Simone; Failla, Pinella; Vinci, Mirella; Musumeci, Antonino; Gloria, Angelo; Vasta, Anna; Calabrese, Giuseppe; Papa, Carla; Federico, Concetta; Saccone, Salvatore; Calì, Francesco
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs
2021-01-01 Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Turriziani, Laura; Costanzo, Maria Cristina; Stracuzzi, Emanuela; Vitello, Girolamo Aurelio; Rando, Rosanna Galati; Musumeci, Antonino; Vinci, Mirella; Musumeci, Sebastiano Antonino; Calì, Francesco
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
2022-01-01 Musumeci, Antonino; Calì, Francesco; Scuderi, Carmela; Vinci, Mirella; Vitello, Girolamo Aurelio; Musumeci, Sebastiano Antonino; Chiavetta, Valeria; Federico, Concetta; Amore, Greta; Saccone, Salvatore; Di Rosa, Gabriella; Nicotera, Antonio Gennaro
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review
2022-01-01 Amore, Greta; Butera, Ambra; Spoto, Giulia; Valentini, Giulia; Saia, Maria Concetta; Salpietro, Vincenzo; Calì, Francesco; Di Rosa, Gabriella; Nicotera, Antonio Gennaro
An odd precocious case of progressive osseous heteroplasia
2021-01-01 Schepis, Carmelo; Lentini, Maria; Calì, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Impaired physical function in patients with idiopathic inflammatory myopathies: results from the multicentre COVAD patient-reported e-survey | 1-gen-2023 | Syahrul Sazliyana Shaharir, 1; Azmawati Mohammed Nawi, 2; Theepa Nesam Mariamutu, 1; Lydia Kamaruzaman, 1; Mohd Shahrir Mohamed Said, 1; Sakthiswary Rajalingham, 1; Ioannis Parodis, 3 4; Manali Sarkar, 5; Samuel Katsuyuki Shinjo, 6; Esha Kadam, 7; Nelly Ziade, 8 9; Chou Luan Tan 10, 11; Francis Gullemin 12, 13; Carlo Vincio Caballero-Uribe, 14; Ai Lyn Tan 15, 16; Laura Andreoli 17, 18; Jasmine Parihar, 19; Praggya Yaadav, 20; Sreoshy Saha, 21; Sambataro, G; Among The Covad Study, Group; Latika Gupta 22 23, Vikas Agarwal 24 | |
| Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant | 1-gen-2025 | Messina, C.; Gulizia, S.; Scalia, F.; Borgione, E.; Cappello, F.; Brighina, F.; Di Stefano, V. | |
| Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome | 1-gen-2013 | Calì, F.; Failla, P.; Chiavetta, V.; Ragalmuto, A.; Ruggeri, G.; Schinocca, P.; Schepis, C.; Romano, V.; Romano, C. | |
| Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients | 1-gen-2013 | Calì, F.; Chiavetta, V.; Ragalmuto, A.; Vinci, M.; Ruggeri, G.; Schinocca, P.; Romano, V. | |
| Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics | 1-gen-2010 | Calì, Francesco; Ruggeri, Giuseppa; Vinci, Mirella; Meli, Concetta; Carducci, Carla; Leuzzi, Vincenzo; Pozzessere, Simone; Schinocca, Pietro; Ragalmuto, Alda; Chiavetta, Valeria; Miccichè, Salvatore; Romano, Valentino | |
| Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review | 1-gen-2021 | Romano, Valentino; Catalano, Giulio; Bazan, Giuseppe; Calì, Francesco; Sineo, Luca | |
| Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants | 1-gen-2025 | Greco, Vittoria; Greco, Donatella; Treccarichi, Simone; Bottitta, Maria; Failla, Pinella; Musumeci, Antonino; Papa, Carla; Chiavetta, Valeria; Calì, Francesco; Vinci, Mirella | |
| ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant | 1-gen-2025 | Calì, Francesco; Virgillito, Miriam; Treccarichi, Simone; Musumeci, Antonino; Failla, Pinella; Papa, Carla; Galati Rando, Rosanna; Federico, Concetta; Saccone, Salvatore; Vinci, Mirella | |
| Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders | 1-gen-2025 | Vinci, Mirella; Musumeci, Antonino; Papa, Carla; Ragalmuto, Alda; Saccone, Salvatore; Federico, Concetta; Greco, Donatella; Greco, Vittoria; Calì, Francesco; Treccarichi, Simone | |
| Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits | 1-gen-2025 | Musumeci, Antonino; Vinci, Mirella; Treccarichi, Simone; Greco, Donatella; Rizzo, Biagio; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Musumeci, Sebastiano Antonino; Calì, Francesco | |
| PHF21A Related Disorder: Description of a New Case | 1-gen-2022 | Butera, Ambra; Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Musumeci, Sebastiano Antonino; Vitello, Girolamo Aurelio; Musumeci, Antonino; Vinci, Mirella; Gloria, Angelo; Federico, Concetta; Saccone, Salvatore; Calì, Francesco | |
| 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 | 1-gen-2021 | Musumeci, Antonino; Vinci, Mirella; L'Episcopo, Francesca; Ragalmuto, Alda; Neri, Vincenzo; Roccella, Michele; Quatrosi, Giuseppe; Vetri, Luigi; Calì, Francesco | |
| Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis | 1-gen-2025 | Musumeci, Antonino; Vinci, Mirella; Treccarichi, Simone; Ragalmuto, Alda; Bruno, Giuseppe; Tinniriello, Giordana; Farina, Jessica; Federico, Concetta; Saccone, Salvatore; Calì, Francesco; Porru, Daniele | |
| Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders | 1-gen-2024 | Vinci, Mirella; Greco, Donatella; Figura, Maria Grazia; Treccarichi, Simone; Musumeci, Antonino; Greco, Vittoria; Pettinato, Rossella; Gloria, Angelo; Papa, Carla; Saccone, Salvatore; Federico, Concetta; Calì, Francesco | |
| Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms | 1-gen-2024 | Vinci, Mirella; Greco, Donatella; Treccarichi, Simone; Chiavetta, Valeria; Figura, Maria Grazia; Musumeci, Antonino; Greco, Vittoria; Federico, Concetta; Calì, Francesco; Saccone, Salvatore | |
| UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways | 1-gen-2024 | Treccarichi, Simone; Failla, Pinella; Vinci, Mirella; Musumeci, Antonino; Gloria, Angelo; Vasta, Anna; Calabrese, Giuseppe; Papa, Carla; Federico, Concetta; Saccone, Salvatore; Calì, Francesco | |
| Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs | 1-gen-2021 | Nicotera, Antonio Gennaro; Di Rosa, Gabriella; Turriziani, Laura; Costanzo, Maria Cristina; Stracuzzi, Emanuela; Vitello, Girolamo Aurelio; Rando, Rosanna Galati; Musumeci, Antonino; Vinci, Mirella; Musumeci, Sebastiano Antonino; Calì, Francesco | |
| Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy | 1-gen-2022 | Musumeci, Antonino; Calì, Francesco; Scuderi, Carmela; Vinci, Mirella; Vitello, Girolamo Aurelio; Musumeci, Sebastiano Antonino; Chiavetta, Valeria; Federico, Concetta; Amore, Greta; Saccone, Salvatore; Di Rosa, Gabriella; Nicotera, Antonio Gennaro | |
| KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review | 1-gen-2022 | Amore, Greta; Butera, Ambra; Spoto, Giulia; Valentini, Giulia; Saia, Maria Concetta; Salpietro, Vincenzo; Calì, Francesco; Di Rosa, Gabriella; Nicotera, Antonio Gennaro | |
| An odd precocious case of progressive osseous heteroplasia | 1-gen-2021 | Schepis, Carmelo; Lentini, Maria; Calì, Francesco |
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