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1دورية أكاديمية
المؤلفون: Margherita Baga, Susanna Rizzi, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani, Carlo Fusco
المصدر: Children, Vol 10, Iss 5, p 901 (2023)
مصطلحات موضوعية: Charcot–Marie–Tooth, demyelinating, PMP2 gene, anticipation, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: Charcot–Marie–Tooth, axonal neuropathy, pyramidal signs, white matter abnormalities, MORC2 gene, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Carlotta Spagnoli, Daniele Frattini, Laura Maria Ceteroni, Milja Kaare, Ivana Frongia, Grazia Gabriella Salerno, Carlo Fusco, Francesco Pisani, Susanna Rizzi, Margherita Baga
المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurologyمصطلحات موضوعية: Pes cavus, Pathology, medicine.medical_specialty, Sensory axonal neuropathy, axonal neuropathy, MORC2 gene, Case Report, Disease, white matter abnormalities, Nerve conduction velocity, Neuroimaging, Intellectual disability, Medicine, Charcot–Marie–Tooth, pyramidal signs, RC346-429, business.industry, medicine.disease, Hypotonia, Clonus, Neurology, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c431b3d44a42c01cf7f3620de02e46a7
https://www.frontiersin.org/articles/10.3389/fneur.2021.718808/full -
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المؤلفون: Francesco Pisani, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Margherita Baga, Luca Soliani, Carlotta Spagnoli, Carlo Fusco
مصطلحات موضوعية: SLC6A3, medicine.medical_specialty, Long term follow up, Juvenile, Parkinsonism, Dopamine transporter, Dystonia, Internal medicine, medicine, Humans, Early onset, Dopamine Plasma Membrane Transport Proteins, Dopamine transporter deficiency syndrome, biology, business.industry, Parkinson Disease, General Medicine, medicine.disease, Endocrinology, Neurology, Dystonic Disorders, biology.protein, Neurology (clinical), business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74e22ebb96da58edbf515ba1ce2ac636
https://hdl.handle.net/11573/1670219 -
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المؤلفون: Livia Garavelli, Juha Koskenvuo, Stefano Giuseppe Caraffi, Carlo Fusco, Daniele Frattini, Margherita Baga, Susanna Rizzi, Luca Soliani, Francesco Pisani, Carlotta Spagnoli, Grazia Gabriella Salerno
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Carbamazepine, Epileptic encephalopathy, Movement disorder, Neurogenetics, RHOBTB2, business.industry, Neurology, medicine, Neurology (clinical), Geriatrics and Gerontology, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67c7aed8fe44016c7e2e10e5a33c8f47
https://hdl.handle.net/11573/1669919