المؤلفون: Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana

المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)

مصطلحات موضوعية: Autism spectrum disorder, Protocadherin, Neuroligin, Developmental global delay, Mixed gonadal dysgenesis, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/d14b0b03ca91439f8f7733b4240888bb

المؤلفون: Federica Scalia, Rosario Barone, Francesca Rappa, Antonella Marino Gammazza, Fabrizio Lo Celso, Giosuè Lo Bosco, Giampaolo Barone, Vincenzo Antona, Maria Vadalà, Alessandra Maria Vitale, Giuseppe Donato Mangano, Domenico Amato, Giusy Sentiero, Filippo Macaluso, Kathryn H. Myburgh, Everly Conway de Macario, Alberto J. L. Macario, Mario Giuffrè, Francesco Cappello

المصدر: Frontiers in Molecular Biosciences, Vol 9 (2022)

مصطلحات موضوعية: CCT5, neurochaperonopathies, chaperonin, neurodegenerative diseases, neuropathies, chaperone system, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2022.887336/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/cd1625c7ed9143f88ed56f2839b5078d

المؤلفون: Rosaria Nardello, Giorgia Plicato, Giuseppe Donato Mangano, Elena Gennaro, Salvatore Mangano, Filippo Brighina, Vincenzo Raieli, Antonina Fontana

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: CACNA1A gene, Familial hemiplegic migraine type 1, Episodic ataxia type2, Cognitive affective syndrome, neuropsychology., Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12883-020-01704-5; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/564a8a935e9c4ee880113895c3d95670

المؤلفون: Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, Rosaria Nardello

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

مصطلحات موضوعية: autism spectrum disorders, EEG, epilepsy, intellectual disability, SCN2A, SCN8A, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/db3b2066efd94faca1af9f68f033a158

المؤلفون: Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo

المساهمون: Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo

مصطلحات موضوعية: BRAF mutation, CFC, Cardiofaciocutaneous syndrome, KRAS mutation, MEK1 mutation, MEK2 mutation, RASopathie, hypertrophic cardiomyopathy, neurodevelopment

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001130847800001; numberofpages:14; journal:GENES; https://hdl.handle.net/10447/638702; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180703729

الاتاحة: https://hdl.handle.net/10447/638702
https://doi.org/10.3390/genes14122111

المؤلفون: Antonella Gambadauro, Giuseppe Donato Mangano, Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello, Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz

المساهمون: Antonella Gambadauro, Giuseppe Donato Mangano , Karol Galletta, Francesca Granata, Antonella Riva, Laura Massella, Isabella Guzzo, Giovanni Farello , Giovanna Scorrano, Ludovica Di Francesco, Giulio Di Donato, Carolina Ianni, Armando Di Ludovico, Saverio La Bella, Pasquale Striano, Stephanie Efthymiou, Henry Houlden, Rosaria Nardello, Roberto Chimenz

مصطلحات موضوعية: NUP85, developmental delay, epileptic spasm, microcephaly, nephrotic syndrome type 17, steroid-resistant nephrotic syndrome

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001137835700001; numberofpages:10; journal:GENES; https://hdl.handle.net/10447/638701

الاتاحة: https://hdl.handle.net/10447/638701
https://doi.org/10.3390/genes14122143

المؤلفون: Giuseppe Donato Mangano, Malak Fouani, Daniela D'Amico, Valentina Di Felice, Rosario Barone

المساهمون: Giuseppe Donato Mangano, Malak Fouani, Daniela D'Amico, Valentina Di Felice, Rosario Barone

مصطلحات موضوعية: cancer-related cachexia, inflammatory cytokine, physical training, skeletal muscle

Relation: info:eu-repo/semantics/altIdentifier/pmid/35328423; info:eu-repo/semantics/altIdentifier/wos/WOS:000775284100001; volume:23; firstpage:1; lastpage:14; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/10447/579116; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949960/

الاتاحة: https://hdl.handle.net/10447/579116
https://doi.org/10.3390/ijms23063004
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949960/

المؤلفون: Rosaria Nardello (10574991), Vincenzo Antona (7842917), Giuseppe Donato Mangano (10574994), Vincenzo Salpietro (4569352), Salvatore Mangano (432498), Antonina Fontana (10574997)

مصطلحات موضوعية: Genetics, Autism spectrum disorder, Protocadherin, Neuroligin, Developmental global delay, Mixed gonadal dysgenesis

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_paradigmatic_autistic_phenotype_associated_with_loss_of_PCDH11Y_and_NLGN4Y_genes/14391315

الاتاحة: https://doi.org/10.6084/m9.figshare.14391315.v1

المؤلفون: Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Salpietro, Vincenzo Antona, Giuseppa Renata Mangano, Rosaria Nardello

المساهمون: Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Salpietro, Vincenzo Antona, Giuseppa Renata Mangano, Rosaria Nardello

مصطلحات موضوعية: Autism spectrum disorders ASD, FMR1 point mutation, Fragile X syndrome, Intellectual disability ID, Nuclear export signal NES, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/38 - Pediatria Generale E Specialistica, Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologica, Settore M-PSI/08 - Psicologia Clinica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35091116; info:eu-repo/semantics/altIdentifier/wos/WOS:000787890200007; volume:65; issue:104441; numberofpages:3; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/10447/558830

الاتاحة: http://hdl.handle.net/10447/558830
https://doi.org/10.1016/j.ejmg.2022.104441

المؤلفون: Giuseppe Donato Mangano, Vincenzo Antona, Elisa Calì, Antonina Fontana, Vincenzo Salpietro, Henry Houlden, Pierangelo Veggiotti, Rosaria Nardello

المصدر: Seizure. 97:20-22

مصطلحات موضوعية: Repressor Proteins, Jumonji Domain-Containing Histone Demethylases, Epilepsy, Phenotype, Neurology, Intellectual Disability, Multigene Family, Mutation, Humans, Nuclear Proteins, Neurology (clinical), General Medicine, Frameshift Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e18f00efb012566eb157e8c8ca9c0fba
https://doi.org/10.1016/j.seizure.2022.03.001

المؤلفون: Rosaria Nardello, Filippo Brighina, Francesca Vanadia, Vincenzo Raieli, Luciana Rocchitelli, Luca Maria Messina, Francesca Marchese, Giuseppe Donato Mangano, Salvatore Mangano

المساهمون: Marchese Francesca, Rocchitelli Luciana, Messina Luca Maria, Nardello Rosaria, Mangano Giuseppe Donato, Vanadia Francesca, Mangano Salvatore, Brighina Filippo, Raieli Vincenzo

المصدر: European Journal of Paediatric Neurology. 27:67-71

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cranial Autonomic Symptom, Long term follow up, Migraine Disorders, Population, Disease, Allodynia, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Prevalence, medicine, Humans, Prospective Studies, Age of Onset, Child, education, Children, Migraine, education.field_of_study, business.industry, General Medicine, medicine.disease, Pediatric headache, Young age, Hyperalgesia, Pediatrics, Perinatology and Child Health, Cohort, Autonomic symptoms, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6fa89bad05e517a1ef5c9cfd41c92df
https://doi.org/10.1016/j.ejpn.2020.04.005

المؤلفون: Federica Scalia, Rosario Barone, Francesca Rappa, Antonella Marino Gammazza, Fabrizio Lo Celso, Giosuè Lo Bosco, Giampaolo Barone, Vincenzo Antona, Maria Vadalà, Alessandra Maria Vitale, Giuseppe Donato Mangano, Domenico Amato, Giusy Sentiero, Filippo Macaluso, Kathryn H. Myburgh, Everly Conway de Macario, Alberto J. L. Macario, Mario Giuffrè, Francesco Cappello

مصطلحات موضوعية: Biochemistry, Molecular Biology, Structural Biology, Enzymes, Protein Trafficking, Proteomics and Intermolecular Interactions (excl. Medical Proteomics), Receptors and Membrane Biology, Signal Transduction, Structural Biology (incl. Macromolecular Modelling), Synthetic Biology, CCT5, neurochaperonopathies, chaperonin, neurodegenerative diseases, neuropathies, chaperone system, muscle histopathology, CCT5 apical domain

Relation: https://figshare.com/articles/dataset/DataSheet1_Muscle_Histopathological_Abnormalities_in_a_Patient_With_a_CCT5_Mutation_Predicted_to_Affect_the_Apical_Domain_of_the_Chaperonin_Subunit_PDF/19957145

الاتاحة: https://doi.org/10.3389/fmolb.2022.887336.s001
https://figshare.com/articles/dataset/DataSheet1_Muscle_Histopathological_Abnormalities_in_a_Patient_With_a_CCT5_Mutation_Predicted_to_Affect_the_Apical_Domain_of_the_Chaperonin_Subunit_PDF/19957145

المؤلفون: Vincenzo Salpietro, Federico Midiri, Giuseppe Donato Mangano, Vincenzo Raieli, Salvatore Mangano, Filippo Brighina, Rosaria Nardello, Paola Borgia, Cesare Gagliardo, Antonina Fontana

المساهمون: Nardello R, Mangano GD, Fontana A, Gagliardo C, Midiri F, Borgia P, Brighina F, Raieli V, Mangano S, Salpietro V.

المصدر: European journal of medical genetics. 64(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, 030105 genetics & heredity, Biology, Focal cortical dysplasia, Palilalia, Frameshift mutation, 03 medical and health sciences, Hypertrichosis cubiti, Intellectual Disability, Genetics, medicine, Humans, Child, Frameshift Mutation, Genetics (clinical), Cerebral Cortex, Wiedemann-steiner syndrome, Genetic disorder, General Medicine, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, Cortical dysplasia, medicine.disease, Malformations of Cortical Development, 030104 developmental biology, Wiedemann-Steiner syndrome, Autism spectrum disorder, biology.protein, medicine.symptom, Myeloid-Lymphoid Leukemia Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00a52537a0f73674e31c0998a817c095
https://pubmed.ncbi.nlm.nih.gov/33387673

المؤلفون: Antonina Fontana, Vincenzo Salpietro, Rosaria Nardello, Elisa Giorgio, Giuseppe Donato Mangano, Pasquale Striano, Salvatore Mangano, Vincenzo Antona, Alfredo Brusco

المساهمون: Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, Brusco A, Mangano S, Salpietro V

المصدر: Seizure. 85

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, KBG, Adolescent, seizure, Outcome (game theory), ANKRD11, Epilepsy, Seizures, Intellectual Disability, Medicine, Humans, Abnormalities, Multiple, Bone Diseases, Developmental, business.industry, Tooth Abnormalities, Facies, High-Throughput Nucleotide Sequencing, General Medicine, KBG SYNDROME, Syndrome, medicine.disease, KBG syndrome, Repressor Proteins, Phenotype, Neurology, Slowing EEG activity, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115574804da836c3bc1213880c708dd7
https://pubmed.ncbi.nlm.nih.gov/33476899

المؤلفون: Giuseppe Donato Mangano, Antonella Riva, Antonina Fontana, Vincenzo Salpietro, Giuseppa Renata Mangano, Giulia Nobile, Alessandro Orsini, Michele Iacomino, Roberta Battini, Guja Astrea, Pasquale Striano, Rosaria Nardello

المساهمون: Mangano G.D., Riva A., Fontana A., Salpietro V., Mangano G.R., Nobile G., Orsini A., Iacomino M., Battini R., Astrea G., Striano P., Nardello R.

المصدر: Epilepsy & Behavior. 129:108604

مصطلحات موضوعية: Landau-Kleffner Syndrome, Epilepsy, Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologica, Intellectual disability, GRIN2B, GRIN2A, Receptors, N-Methyl-D-Aspartate, Gene de novo variants, Settore MED/39 - Neuropsichiatria Infantile, Behavioral Neuroscience, Settore MED/38 - Pediatria Generale E Specialistica, Neurology, Neurodevelopmental Disorders, Settore M-PSI/08 - Psicologia Clinica, Humans, Epilepsies, Partial, Neurology (clinical), Autism spectrum disorder, Autistic Disorder, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0056ad13a40f7df9ca365b8575e24c7
https://doi.org/10.1016/j.yebeh.2022.108604

المؤلفون: Salvatore Mangano, Antonina Fontana, Rosaria Nardello, Giuseppe Donato Mangano, Maria Cristina Stallone, Annalisa Beninati, Vincenzo Antona

المساهمون: Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S

المصدر: Brain and Development. 40:58-64

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Adolescent, Mutation, Missense, Intellectual disability, Cell Cycle Proteins, Nerve Tissue Proteins, Genetic analysis, Receptors, G-Protein-Coupled, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Settore M-PSI/08 - Psicologia Clinica, Humans, Medicine, Missense mutation, Gene, WDR62, Genetics, MCPH, Epilepsy, business.industry, Genetic heterogeneity, Infant, General Medicine, Infantile Spasm, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, Phenotype, 030104 developmental biology, GPR56, Mutation, Pediatrics, Perinatology and Child Health, Infantile spasm, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e6fa7f10e2db827647906c7f2c1f9d
https://doi.org/10.1016/j.braindev.2017.07.003

المؤلفون: Ettore Piro, Vincenzo Salpietro, Francesco Miceli, Rosaria Nardello, Giuseppe Donato Mangano, Antonina Fontana

المساهمون: Nardello R, Mangano GD, Miceli F, Fontana A, Piro E, Salpietro V.

مصطلحات موضوعية: Male, GABRA6, Mutation, Missense, medicine.disease_cause, KCNQ3 Potassium Channel, Epilepsy, mutation, medicine, Humans, Missense mutation, BFIE, Genetics, Benign familial infantile epilepsy, Mutation, KCNQ3, biology, business.industry, Genetic heterogeneity, Infant, General Medicine, medicine.disease, Penetrance, Epilepsy, Benign Neonatal, Neurology, benign familial infantile epilepsy, biology.protein, incidence, Neurology (clinical), business, PRRT2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a310ff9973f08b1495b46f46f19085c
http://hdl.handle.net/10447/472649

المؤلفون: Silvia Grimaldi, Livia Bernardi, Chiara Cupidi, Giuseppe Donato Mangano, Giuseppina Piccione, Raffaele Maletta, Salvatore Basiricò, Nicoletta Smirne, Enrico Grosso, Valentina Laganà, Amalia C. Bruni, Laura Orsi, Rosaria Nardello, Micaela Mitolo, Fabio Giacalone

المساهمون: Grimaldi S., Cupidi C., Smirne N., Bernardi L., Giacalone F., Piccione G., Basirico S., Mangano G.D., Nardello R., Orsi L., Grosso E., Lagana V., Mitolo M., Maletta R.G., Bruni A.C., Grimaldi S, Cupidi C, Smirne N, Bernardi L, Giacalone F, Piccione G, Basiricò S, Mangano GD, Nardello R, Orsi L, Grosso E, Laganà V, Mitolo M, Maletta RG, Bruni AC

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Disease, Neuropsychological Tests, White People, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Atrophy, Trinucleotide Repeats, dentatorubral-pallidoluysian atrophy, medicine, Humans, Family, ATN1 gene, Child, Founder mutation, Aged, Dentatorubral-pallidoluysian atrophy, business.industry, genealogical method, Middle Aged, medicine.disease, Myoclonic Epilepsies, Progressive, Pedigree, 030104 developmental biology, founder effect, Neurology, Cerebellar cognitive affective syndrome, Italy, cerebellar cognitive-affective syndrome, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Founder effect

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0088bc2f16058e219eecd9733cbf2019
http://hdl.handle.net/11585/876652