المؤلفون: Michele Tosi, Francesca Cumbo, Michela Catteruccia, Adelina Carlesi, Irene Mizzoni, Giacomo De Luca, Claudio Cherchi, Renato Cutrera, Enrico Bertini, Adele D'Amico

المصدر: European Journal of Paediatric Neurology. 43:36-43

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine

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المؤلفون: Marta Nardella, Adele D'Amico, Matteo Di Capua, Marina Trivisano, Nicola Specchio, Roberto Frusciante, Ginevra Zanni, José M. Fernández-Fernández, Lorena Travaglini, Emanuele Bellacchio, Raffaella Cusmai, Federico Vigevano, Massimiliano Valeriani, Enrico Bertini, Sabina Barresi, Alessandro Capuano, Silvia Morlino

المصدر: European Journal of Paediatric Neurology. 21:450-456

مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Migraine Disorders, Mutation, Missense, Neuroimaging, Biology, 03 medical and health sciences, Calcium Channels, N-Type, 0302 clinical medicine, Atrophy, medicine, Humans, Missense mutation, Child, Gene, Genetics, General Medicine, medicine.disease, Magnetic Resonance Imaging, Phenotype, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Migraine, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Cerebellar atrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2ce5dc85c9e85cfbeb20c9c25be982Test
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المصدر: European Journal of Paediatric Neurology

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Ubiquinone, Biopsy, DNA Mutational Analysis, Marinesco–Sjögren syndrome, Nonsense mutation, Clinical Neurology, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Guanine Nucleotide Exchange Factors, Humans, Pediatrics, Perinatology, and Child Health, Muscle, Skeletal, Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, Cerebellar ataxia, Marinesco-Sjogren syndrome, Inherited cerebellar ataxias, General Medicine, medicine.disease, Coenzyme Q10 deficiency, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Original Article, Female, Cerebellar atrophy, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, ADCK3

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5fb83d649211e74b4dd5fbc188e187cTest
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المؤلفون: Adele D'Amico, Marina Vivarelli, Simona Cascioli, Michela Catteruccia, Fabrizio De Benedetti, Manuela Colucci, Enrico Bertini

المصدر: European Journal of Paediatric Neurology. 16:301-303

مصطلحات موضوعية: medicine.medical_specialty, Chronic inflammatory demyelinating polyneuropathy, Disease, Gastroenterology, Antibodies, Monoclonal, Murine-Derived, Young Adult, Refractory, Internal medicine, Humans, Immunologic Factors, Medicine, Age of Onset, Young adult, Child, business.industry, Polyradiculoneuropathy, General Medicine, medicine.disease, Electrophysiology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Pediatrics, Perinatology and Child Health, Monoclonal, Female, Rituximab, Neurology (clinical), Age of onset, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd423714735ec6bb2b650214d0edd3c0Test
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