المؤلفون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, MG, Verriello, L, Wood, N, Frontali, M., IODICE, CARLA

المساهمون: Mantuano, E, Veneziano, L, Spadaro, M, Giunti, P, Guida, S, Leggio, M, Verriello, L, Wood, N, Iodice, C, Frontali, M

مصطلحات موضوعية: Adolescent, Male, Cerebellar Ataxia, Middle Aged, Mutation, Polymorphism, Single-Stranded Conformational, Female, Human, Sequence Homology, Amino Acid, Calcium Channels, N-Type, Aged, Molecular Sequence Data, Adult, Amino Acid Sequence, DNA Mutational Analysis, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000221780600026; volume:41; issue:6; firstpage:e82; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2108/31166Test

الإتاحة: https://doi.org/10.1136/jmg.2003.015396Test
http://hdl.handle.net/2108/31166Test

المؤلفون: Guida, S, Trettel, F, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, M, Stauderman, K, Williams, M, Volsen, S, Ophoff, R, Frants, R, Frontali, M, Pietrobon, D., IODICE, CARLA

المساهمون: Guida, S, Trettel, F, Pagnutti, S, Mantuano, E, Tottene, A, Veneziano, L, Fellin, T, Spadaro, M, Stauderman, K, Williams, M, Volsen, S, Ophoff, R, Frants, R, Iodice, C, Frontali, M, Pietrobon, D

مصطلحات موضوعية: Chromosome Mapping, Male, Cerebellar Ataxia, Cell Line, Chromosomes, Human, Pair 19, Transfection, Female, Protein Subunit, Protein Structure, Secondary, Calcium Channel, Patch-Clamp Technique, Calcium Channels, P-Type, Models, Molecular, Mutation, Missense, Membrane Potential, Mutagenesis, Site-Directed, Molecular Sequence Data, Amino Acid Sequence, Pedigree, Q-Type, Settore BIO/18 - GENETICA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000166994200019; volume:68; issue:3; firstpage:759; lastpage:764; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2108/46429Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035089729; http://www.ncbi.nlm.nih.gov/pubmed/11179022Test

الإتاحة: http://hdl.handle.net/2108/46429Test
http://www.ncbi.nlm.nih.gov/pubmed/11179022Test

المؤلفون: Maria Vittoria De Angelis, Vincenzo Di Stefano, Marianna Gabriella Rispoli, Elide Mantuano

المساهمون: Rispoli M.G., Di Stefano V., Mantuano E., De Angelis M.V.

المصدر: BMJ case reports 12 (2019). doi:10.1136/bcr-2019-231129.
info:cnr-pdr/source/autori:Rispoli M.G; Di Stefano V.; Mantuano E.; De Angelis M.V./titolo:Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine/doi:10.1136%2Fbcr-2019-231129./rivista:BMJ case reports/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:12
BMJ Case Rep

مصطلحات موضوعية: Male, Weakness, Pediatrics, medicine.medical_specialty, Ataxia, Neurology, Migraine with Aura, Mutation, Missense, Neuroimaging, neuro genetics, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Rare Disease, ATP1A2, medicine, Humans, Missense mutation, genetic screening / counselling, 030212 general & internal medicine, Migraine, Aged, Neurologic Examination, Genetic counselling, Cerebellar ataxia, business.industry, Headache, General Medicine, Magnetic Resonance Imaging, Migraine with aura, Pedigree, Hemiparesis, Settore MED/26 - Neurologia, Sodium-Potassium-Exchanging ATPase, medicine.symptom, business, headache (including migraines), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c559960227e4156cddbc5830b94a6eTest
https://casereports.bmj.com/content/12/10/e231129Test