Sfoglia per Autore
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis
2024-01-01 Cirnigliaro, L.; Pettinato, F.; Valle, Maria Stella Carmela; Casabona, A.; Fiumara, A.; Vecchio, M.; Amico, V.; Rizzo, R.; Jaeken, J.; Barone, R.; Cioni, M.
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements
file da validare2024-01-01 Prato, A.; Cirnigliaro, L.; Maugeri, F.; Luca, A.; Giuliano, L.; Vitiello, G.; Errichiello, E.; Valente, E. M.; Del Giudice, E.; Mostile, G.; Rizzo, R.; Barone, R.
CSF N-Glycomics Using MALDI MS Techniques
2024-01-01 Messina, Angela; Romeo, Donata Agata; Barone, Rita; Sturiale, Luisa; Palmigiano, Angelo; Zappia, Mario; Garozzo, Domenico
CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer’s Disease
2024-01-01 Messina, Angela; Barone, Rita; Sturiale, Luisa; Zappia, Mario; Palmigiano, Angelo; Garozzo, Domenico
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
file da validare2024-01-01 Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation
2023-01-01 Fiumara, Agata; Sapuppo, Annamaria; Ferri, Lorenzo; Arena, Alessia; Prato, Adriana; Garozzo, Domenico; Sturiale, Luisa; Morrone, Amelia; Barone, Rita
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder
2023-01-01 Cirnigliaro, L.; Valle, Maria Stella Carmela; Casabona, A.; Randazzo, M.; La Bruna, F.; Pettinato, F.; Narzisi, A.; Rizzo, R.; Barone, R.
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting
2023-01-01 Saia, Federica; Prato, Adriana; Saccuzzo, Lucia; Madia, Francesca; Barone, Rita; Fichera, Marco; Rizzo, Renata
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic
2023-01-01 Fiumara, Agata; Lanzafame, Giuseppina; Sapuppo, Annamaria; Arena, Alessia; Cirnigliaro, Lara; Barone, Rita
Symptoms compatible with long COVID in an Italian pediatric cohort of Tourette patients with and without SARS‑CoV‑2 infection: a short-term follow-up assessment
2023-01-01 Prato, Adriana; Salerno, Angela Maria; Saia, Federica; Maugeri, Nicoletta; Zanini, Alice; Scerbo, Miriam; Barone, Rita; Rizzo, Renata
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria
2023-01-01 Parolisi, Sara; Montanari, Chiara; Borghi, Elisa; Cazzorla, Chiara; Zuvadelli, Juri; Tosi, Martina; Barone, Rita; Bensi, Giulia; Bonfanti, Cristina; Dionisi Vici, Carlo; Biasucci, Giacomo; Burlina, Alberto; Carbone, Maria T; Verduci, Elvira
Editorial: Women in psychiatry 2022: autism
2023-01-01 Barone, Rita; Colombi, Costanza
PARK2 microdeletion in a multiplex family with autism spectrum disorder
2023-01-01 Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample
2023-01-01 Randazzo, Martina; Prato, Adriana; Messina, Mariaanna; Meli, Concetta; Casabona, Antonino; Rizzo, Renata; Barone, Rita
Editorial: Women in psychiatry 2021: Autism
2022-01-01 Barone, Rita; Colombi, Costanza
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation
2022-01-01 Di Patria, L.; Annibalini, G.; Morrone, A.; Ferri, L.; Saltarelli, R.; Galluzzi, L.; Diotallevi, A.; Bocconcelli, M.; Donati, M. A.; Barone, R.; Guerrini, R.; Jaeken, J.; Stocchi, V.; Barbieri, E.
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study
2022-01-01 Rizzo, R.; Prato, A.; Scerbo, M.; Saia, F.; Barone, R.; Curatolo, P.
Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues
2022-01-01 Fabbri-Destro, Maddalena; Maugeri, Federica; Ianni, Carolina; Corsini, Sofia; Di Stefano, Erica; Scatigna, Stefano; Crifaci, Giulia; Bruzzi, Gianina; Berloffa, Stefano; Fantozzi, Pamela; Prato, Adriana; Muccio, Rosy; Valente, Elena; Pelagatti, Susanna; Pecchini, Edoardo; Zulli, Filippo; Rizzo, Renata; Milone, Annarita; Viglione, Valentina; Barone, Rita; Masi, Gabriele; Narzisi, Antonio
Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2)
2022-01-01 Narzisi, A.; Fabbri-Destro, M.; Crifaci, G.; Scatigna, S.; Maugeri, F.; Berloffa, S.; Fantozzi, P.; Prato, A.; Muccio, R.; Valente, E.; Viglione, V.; Pecchini, E.; Pelagatti, S.; Rizzo, R.; Milone, A.; Barone, R.; Masi, G.
COG6-CDG: Novel variants and novel malformation
2022-01-01 Cirnigliaro, Lara; Bianchi, Paolo; Sturiale, Luisa; Garozzo, Domenico; Mangili, Giovanna; Keldermans, Liesbeth; Rizzo, Renata; Matthijs, Gert; Fiumara, Agata; Jaeken, Jaak; Barone, Rita
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis | 1-gen-2024 | Cirnigliaro, L.; Pettinato, F.; Valle, Maria Stella Carmela; Casabona, A.; Fiumara, A.; Vecchio, M.; Amico, V.; Rizzo, R.; Jaeken, J.; Barone, R.; Cioni, M. | |
Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements | 1-gen-2024 | Prato, A.; Cirnigliaro, L.; Maugeri, F.; Luca, A.; Giuliano, L.; Vitiello, G.; Errichiello, E.; Valente, E. M.; Del Giudice, E.; Mostile, G.; Rizzo, R.; Barone, R. | file da validare |
CSF N-Glycomics Using MALDI MS Techniques | 1-gen-2024 | Messina, Angela; Romeo, Donata Agata; Barone, Rita; Sturiale, Luisa; Palmigiano, Angelo; Zappia, Mario; Garozzo, Domenico | |
CSF N-Glycomics Using High-Throughput UPLC-ESI Techniques in Alzheimer’s Disease | 1-gen-2024 | Messina, Angela; Barone, Rita; Sturiale, Luisa; Zappia, Mario; Palmigiano, Angelo; Garozzo, Domenico | |
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA | 1-gen-2024 | Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia | file da validare |
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation | 1-gen-2023 | Fiumara, Agata; Sapuppo, Annamaria; Ferri, Lorenzo; Arena, Alessia; Prato, Adriana; Garozzo, Domenico; Sturiale, Luisa; Morrone, Amelia; Barone, Rita | |
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder | 1-gen-2023 | Cirnigliaro, L.; Valle, Maria Stella Carmela; Casabona, A.; Randazzo, M.; La Bruna, F.; Pettinato, F.; Narzisi, A.; Rizzo, R.; Barone, R. | |
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting | 1-gen-2023 | Saia, Federica; Prato, Adriana; Saccuzzo, Lucia; Madia, Francesca; Barone, Rita; Fichera, Marco; Rizzo, Renata | |
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic | 1-gen-2023 | Fiumara, Agata; Lanzafame, Giuseppina; Sapuppo, Annamaria; Arena, Alessia; Cirnigliaro, Lara; Barone, Rita | |
Symptoms compatible with long COVID in an Italian pediatric cohort of Tourette patients with and without SARS‑CoV‑2 infection: a short-term follow-up assessment | 1-gen-2023 | Prato, Adriana; Salerno, Angela Maria; Saia, Federica; Maugeri, Nicoletta; Zanini, Alice; Scerbo, Miriam; Barone, Rita; Rizzo, Renata | |
Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria | 1-gen-2023 | Parolisi, Sara; Montanari, Chiara; Borghi, Elisa; Cazzorla, Chiara; Zuvadelli, Juri; Tosi, Martina; Barone, Rita; Bensi, Giulia; Bonfanti, Cristina; Dionisi Vici, Carlo; Biasucci, Giacomo; Burlina, Alberto; Carbone, Maria T; Verduci, Elvira | |
Editorial: Women in psychiatry 2022: autism | 1-gen-2023 | Barone, Rita; Colombi, Costanza | |
PARK2 microdeletion in a multiplex family with autism spectrum disorder | 1-gen-2023 | Barone, Rita; Cirnigliaro, Lara; Saccuzzo, Lucia; Valdese, Silvia; Pettinato, Fabio; Prato, Adriana; Bernardini, Laura; Fichera, Marco; Rizzo, Renata | |
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample | 1-gen-2023 | Randazzo, Martina; Prato, Adriana; Messina, Mariaanna; Meli, Concetta; Casabona, Antonino; Rizzo, Renata; Barone, Rita | |
Editorial: Women in psychiatry 2021: Autism | 1-gen-2022 | Barone, Rita; Colombi, Costanza | |
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation | 1-gen-2022 | Di Patria, L.; Annibalini, G.; Morrone, A.; Ferri, L.; Saltarelli, R.; Galluzzi, L.; Diotallevi, A.; Bocconcelli, M.; Donati, M. A.; Barone, R.; Guerrini, R.; Jaeken, J.; Stocchi, V.; Barbieri, E. | |
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study | 1-gen-2022 | Rizzo, R.; Prato, A.; Scerbo, M.; Saia, F.; Barone, R.; Curatolo, P. | |
Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues | 1-gen-2022 | Fabbri-Destro, Maddalena; Maugeri, Federica; Ianni, Carolina; Corsini, Sofia; Di Stefano, Erica; Scatigna, Stefano; Crifaci, Giulia; Bruzzi, Gianina; Berloffa, Stefano; Fantozzi, Pamela; Prato, Adriana; Muccio, Rosy; Valente, Elena; Pelagatti, Susanna; Pecchini, Edoardo; Zulli, Filippo; Rizzo, Renata; Milone, Annarita; Viglione, Valentina; Barone, Rita; Masi, Gabriele; Narzisi, Antonio | |
Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2) | 1-gen-2022 | Narzisi, A.; Fabbri-Destro, M.; Crifaci, G.; Scatigna, S.; Maugeri, F.; Berloffa, S.; Fantozzi, P.; Prato, A.; Muccio, R.; Valente, E.; Viglione, V.; Pecchini, E.; Pelagatti, S.; Rizzo, R.; Milone, A.; Barone, R.; Masi, G. | |
COG6-CDG: Novel variants and novel malformation | 1-gen-2022 | Cirnigliaro, Lara; Bianchi, Paolo; Sturiale, Luisa; Garozzo, Domenico; Mangili, Giovanna; Keldermans, Liesbeth; Rizzo, Renata; Matthijs, Gert; Fiumara, Agata; Jaeken, Jaak; Barone, Rita |
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