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المؤلفون: Pasquale Striano, Francesca Madia, Giuseppe Milito, Aglaia Vignoli, Vincenzo Salpietro, Michele Iacomino, Alice Bonuccelli, Valentina Chiesa, Tullio Messana, Antonella Riva, Francesca Vanadia, Lucio Giordano, Marilena Vecchi, Patrizia Accorsi, Francesca Marchese, Federico Zara, Alberto Spalice, Francesca Beccaria, Carlo Fusco, Maria Margherita Mancardi, Lorella Caffi, Maria Stella Vari, Margherita Santucci, Elisabetta Amadori, Angelo Russo, Lucia Margari, Alessandro Orsini, Marilisa Carpentieri, Ganna Balagura, Fabio Benfenati, Giovanni Cricchiutti, Thea Giacomini
المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 28
مصطلحات موضوعية: Proband, Adult, Male, Heterozygote, Movement disorders, Paroxysmal dyskinesia, Adolescent, Nerve Tissue Proteins, Bioinformatics, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Seizures, 030225 pediatrics, Genetics, Missense mutation, Medicine, Humans, Family history, Child, Genetic Association Studies, business.industry, Infant, Membrane Proteins, General Medicine, medicine.disease, Penetrance, PRRT2, Dystonia, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Maria Iascone, Daniela Mamoli, Ezio Bonanomi, Laura Pezzoli, Anna Cereda, Lidia Pezzani, Loredana Perego, Laura Salvoni, Daniela Marchetti, Isabella Pellicioli, Anna R. Lincesso, Lorella Caffi, Ornella Manara
المصدر: American journal of medical genetics. Part A. 176(12)
مصطلحات موضوعية: 0301 basic medicine, Proto-Oncogene Proteins B-raf, Pediatrics, medicine.medical_specialty, Genetic syndromes, Acute encephalopathy, RASopathy, Cardiofaciocutaneous syndrome, 03 medical and health sciences, Facial dysmorphism, 0302 clinical medicine, Exome Sequencing, Genetics, Medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetic Association Studies, Comparative Genomic Hybridization, business.industry, Brain, Facies, Electroencephalography, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 030104 developmental biology, Genes, ras, Phenotype, Karyotyping, Mutation, Egypt, Female, Presentation (obstetrics), medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Pasquale Striano, Elena Freri, Lucia Fusco, Carlo Avolio, Domenica Battaglia, Renzo Guerrini, Nicola Specchio, Marina Trivisano, Tommaso Martino, Clementina Boniver, Luca De Palma, Caterina Zanus, Federico Vigevano, Raffaella Cusmai, Federico Sicca, Stefania Maria Bova, Davide Mei, Elena Zambrelli, Maria Paola Canevini, Marilena Vecchi, Lucio Giordano, Carla Marini, Simona Cappelletti, Enrico Bertini, Alessandra Terracciano, Luigi Maria Specchio, Annarita Ferrari, Francesca Darra, Tiziana Granata, Massimo Mastrangelo, Lorella Caffi, Paola Costa, Ilaria Tondo, Bernardo Dalla Bernardina, Patrizia Accorsi, Elisabetta Cesaroni, Nicola Pietrafusa, Lucio Parmeggiani, Nelia Zamponi, Francesca Ragona
مصطلحات موضوعية: 0301 basic medicine, focal epilepsy, Male, Pediatrics, PCDH19, Electroencephalography, Cohort Studies, Epilepsy, 0302 clinical medicine, Intellectual disability, epileptic encephalopathy, genetic epilepsy, genotype-phenotype correlation, Age of Onset, Child, medicine.diagnostic_test, Cadherins, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Female, medicine.symptom, Cohort study, Adult, medicine.medical_specialty, Adolescent, Status epilepticus, 03 medical and health sciences, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Seizures, Intellectual Disability, medicine, Humans, Autistic Disorder, Preschool, Retrospective Studies, business.industry, Infant, Retrospective cohort study, Gene rearrangement, medicine.disease, Protocadherins, 030104 developmental biology, Autism, Neurology (clinical), business, Epileptic Syndromes, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2edd0a04e7f797e0221ed9ca780d9db0
https://hdl.handle.net/10807/161897 -
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المؤلفون: Domenica Battaglia, Renzo Guerrini, Tiziana Granata, Federico Sicca, Davide Mei, Paolo Ricciardelli, Francesca Darra, Carla Marini, Luigina Spaccini, Lucio Parmeggiani, Nelia Zamponi, Salvatore Grosso, Elisabetta Cesaroni, Annarita Ferrari, Nicola Specchio, Bernardo Dalla Bernardina, Raffaella Cusmai, Maria Paola Canevini, Massimo Mastrangelo, Maria Lucia Canopoli, Lorella Caffi, Federico Vigevano, Alessandra Terracciano, Patrizia Accorsi, Tiziana Pisano
المصدر: Epilepsia. 53:2111-2119
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, medicine.diagnostic_test, Context (language use), Status epilepticus, Semiology, Electroencephalography, medicine.disease, Epilepsy, Neurology, medicine, Missense mutation, Ictal, Neurology (clinical), medicine.symptom, Psychology, Neuroscience, Myoclonus
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المؤلفون: Roberto Giorda, Davide Tonduti, Ivan Limongelli, Alice Decio, Umberto Balottin, Orsetta Zuffardi, Simona Orcesi, Lorella Caffi, Roberto Ciccone, Anna Pichiecchio, Annalisa Vetro
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Collagen Type IV, Male, Pathology, medicine.medical_specialty, DNA Mutational Analysis, Compound heterozygosity, Asymptomatic, Leukoencephalopathy, White matter, Epilepsy, Genetics, medicine, Humans, Abnormalities, Multiple, Microhematuria, Child, Genetics (clinical), Genetic Association Studies, Base Sequence, business.industry, Cerebral Palsy, Diplegia, medicine.disease, medicine.icd_9_cm_classification, White Matter, Radiography, medicine.anatomical_structure, Mutation, medicine.symptom, business, Calcification
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المؤلفون: Maurizio Viri, Nicola Specchio, Angela Robbiano, Marilena Vecchi, Federico Vigevano, Viviana Cardilli, Anna Maria Laverda, Francesca Vanadia, Pasquale Striano, Amedeo Bianchi, Lucio Giordano, Nicola Vanni, Gemma Incorpora, Francesca Beccaria, Massimo Mastrangelo, Mauro Budetta, Francesca Darra, Guya Occhi, Roberto Gaggero, Lorella Caffi, Lucia Fusco, Bernardo Dalla Bernardina, Carlo Minetti, Roberta Paravidino, Renzo Guerrini, Luigina Spaccini, Pierangelo Veggiotti, Elena Gennaro, Domenico A. Coviello, Maurizio Taglialatela, Federico Zara, Giuseppe Capovilla
المساهمون: Zara, F, Specchio, N, Striano, P, Robbiano, A, Gennaro, E, Paravidino, R, Vanni, N, Beccaria, F, Capovilla, G, Bianchi, A, Caffi, L, Cardilli, V, Darra, F, Bernardina, Bd, Fusco, L, Gaggero, R, Giordano, L, Guerrini, R, Incorpora, G, Mastrangelo, M, Spaccini, L, Laverda, Am, Vecchi, M, Vanadia, F, Veggiotti, P, Viri, M, Occhi, G, Budetta, M, Taglialatela, Maurizio, Coviello, Da, Vigevano, F, Minetti, C.
مصطلحات موضوعية: Adult, Male, Adolescent, Nerve Tissue Proteins, Biology, medicine.disease_cause, Bioinformatics, KCNQ3 Potassium Channel, Cohort Studies, Epilepsy, Young Adult, Predictive Value of Tests, medicine, Humans, KCNQ2 Potassium Channel, Benign familial neonatal seizures, Genetic Testing, Benign epilepsy, Age of Onset, Child, Genetic testing, Aged, Genetics, Aged, 80 and over, KCNQ2, Mutation, KCNQ3, NAV1.2 Voltage-Gated Sodium Channel, medicine.diagnostic_test, Genetic heterogeneity, Infant, Membrane Proteins, Paroxysmal dyskinesia, Middle Aged, medicine.disease, Epilepsy, Benign Neonatal, Channelopathies, PRRT2, Neurology, Child, Preschool, Multigene Family, Female, Neurology (clinical), Age of onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76fc7656bdd4a939a603dfd806ac71d
http://hdl.handle.net/11562/625555 -
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المؤلفون: Carla, Marini, Francesca, Darra, Nicola, Specchio, Davide, Mei, Alessandra, Terracciano, Lucio, Parmeggiani, Annarita, Ferrari, Federico, Sicca, Massimo, Mastrangelo, Luigina, Spaccini, Maria Lucia, Canopoli, Elisabetta, Cesaroni, Nelia, Zamponi, Lorella, Caffi, Paolo, Ricciardelli, Salvatore, Grosso, Tiziana, Pisano, Maria Paola, Canevini, Tiziana, Granata, Patrizia, Accorsi, Domenica, Battaglia, Raffaella, Cusmai, Federico, Vigevano, Bernardo, Dalla Bernardina, Renzo, Guerrini
مصطلحات موضوعية: Adult, Adolescent, PCDH19, DNA Mutational Analysis, Video Recording, Neuropsychological Tests, Focal seizures, Focal epilepsy, Affective ictal semiology, Genetic epilepsy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Seizures, Humans, Genetic Predisposition to Disease, Affective Symptoms, Child, Preschool, Computational Biology, Electroencephalography, Cadherins, Protocadherins, Child, Preschool, Mutation, Female, PCDH19 mutation, Cognition Disorders, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f35420e1f4769711800b59f2e3b1aba7
http://hdl.handle.net/11365/1000813 -
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المؤلفون: Elisa, Fazzi, Maria, Zaccagnino, Chiara, Capsoni, Simona, Orcesi, Giulia, Spada, Anna, Cavallini, Lorella, Caffi, Lucia, Bianchini, Vincenzo, Montrasio, Fabio, Zambonin
المصدر: Functional neurology. 21(3)
مصطلحات موضوعية: Adult, Male, Sleep Wake Disorders, Infant, Reproducibility of Results, Child Development, Reference Values, Child, Preschool, Surveys and Questionnaires, Humans, Female, Parent-Child Relations, Wakefulness, Sleep
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المؤلفون: Lorella Caffi, C. Telesca, Simona Orcesi, Giovanni Lanzi, Elisa Fazzi, Alessandra Ometto, Giorgio Rondini
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, Neurological signs, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Leukomalacia, Periventricular, Gestational Age, Speech Disorders, Central nervous system disease, medicine, Humans, Child, Movement Disorders, Periventricular leukomalacia, business.industry, Infant, Newborn, Gestational age, General Medicine, Prognosis, medicine.disease, El Niño, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Cognition Disorders, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876ca0daa54c903b533ace9a2014f523
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027969039&partnerID=MN8TOARS -
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المؤلفون: Isabella Moroni, Marina Mora, Lucia Morandi, Cinzia Bragato, Sabrina Maestrini, Lorella Caffi, Anna Ardissone, Maria Luisa Bianchi, Flavia Blasevich
المساهمون: Ardissone, A, Bragato, C, Caffi, L, Blasevich, F, Maestrini, S, Bianchi, M, Morandi, L, Moroni, I, Mora, M
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Caveolin 3, Caveolin 1, Subcutaneous Fat, Case Report, Muscle mounding, RNA-Binding Protein, Congenital generalized lipodystrophy type 4, Biology, Congenital generalized lipodystrophy, Cavin-1, Insulin resistance, Lipodystrophy, Congenital Generalized, Muscular Diseases, PTRF, Internal medicine, Diabetes mellitus, medicine, Genetics, Humans, Genetics(clinical), Myopathy, Acanthosis nigricans, Genetics (clinical), Muscular Disease, Homozygote, RNA-Binding Proteins, medicine.disease, Endocrinology, Child, Preschool, PTRF/CAVIN, Mutation, HyperCKemia, medicine.symptom, Lipodystrophy, Steatosis, Tomography, X-Ray Computed, Gene Deletion, Human, Muscle Contraction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ad75cf907a72e2bf3969e973466073
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