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المؤلفون: Michele Tosi, Maria Cristina D'Adamo, Ginevra Zanni, Rikard Blunck, Paola Imbrici, Antonella Liantonio, Elena Conte, Annamaria De Luca, Fabrizia Stregapede, V. Brankovic
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 9913, p 9913 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 18مصطلحات موضوعية: Proband, Ataxia, QH301-705.5, Gating, Pharmacology, 4-aminopyridine (4-AP), medicine.disease_cause, patch clamp, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, KCNA2, medicine, Patch clamp, Physical and Theoretical Chemistry, Biology (General), Molecular Biology, QD1-999, Spectroscopy, 030304 developmental biology, 0303 health sciences, Mutation, Cerebellar ataxia, Chemistry, Organic Chemistry, HEK 293 cells, ataxia, General Medicine, medicine.disease, molecular dynamics, Computer Science Applications, epilepsy, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9d61a8729ac8ba3a6a4c18265b89c1Test
https://www.mdpi.com/1422-0067/22/18/9913Test -
2Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease
المؤلفون: Michele Tosi, Francesca Magrinelli, Paola Tonin
المصدر: Neurology. 89:e21-e22
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Supine position, Neurology, Iliopsoas Muscle, Late onset, 03 medical and health sciences, late-onset Pompe disease, 0302 clinical medicine, Lumbar, Internal medicine, Medicine, Muscle biopsy, medicine.diagnostic_test, business.industry, Parkinsonism, medicine.disease, Trunk, Surgery, bent spine syndrome, 030104 developmental biology, Cardiology, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e395d40b2ea9591cf61921dbaad45ab0Test
https://doi.org/10.1212/wnl.0000000000004119Test