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المؤلفون: Robert C. Griggs, Shannon L. Venance, Stephen C. Cannon, Rabi Tawil, Bertrand Fontaine, Louis J. Ptáček, Doreen Fialho, Martin Tristani-Firouzi, Michael G. Hanna
المصدر: Brain : a journal of neurology. 129(Pt 1)
مصطلحات موضوعية: medicine.medical_specialty, Weakness, Potassium Channels, Flaccid paralysis, Genotype, Sodium Channels, Paralyses, Familial Periodic, Epilepsy, Mice, Andersen–Tawil syndrome, Channelopathy, Molecular genetics, Medicine, Animals, Humans, Carbonic Anhydrase Inhibitors, Muscle, Skeletal, Mice, Knockout, business.industry, Periodic paralysis, medicine.disease, Phenotype, Paramyotonia congenita, Models, Animal, Mutation, Potassium, Neurology (clinical), medicine.symptom, business, Neuroscience, Ion Channel Gating
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6471cf1798ff6e2fec5d3a71cbf632dfTest
https://pubmed.ncbi.nlm.nih.gov/16195244Test -
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المؤلفون: David R. Cornblath, Doreen Fialho
المصدر: The Cochrane Library
مصطلحات موضوعية: medicine.medical_specialty, Pathology, business.industry, medicine, Human immunodeficiency virus (HIV), Pharmacology (medical), medicine.disease_cause, business, medicine.disease, Polyneuropathy, Surgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::89f93bf83198c246f965318905705a00Test
https://doi.org/10.1002/14651858.cd004301Test -
43دورية أكاديمية
المؤلفون: Doreen Fialho, Michael, G. Hanna
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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44
المؤلفون: Tracey D. Graves, Michael G. Hanna, Robert C. Griggs, Robert W. Baloh, Yoon Hee Cha, Brian N. Bundy, Joanna Jen, Anthony A. Amato, Shelagh J.M. Smith, Doreen Fialho
المصدر: Neurology. 78:P05.029-P05.029
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Eeg abnormalities, Neurology (clinical), Audiology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7f53080104d44efb5f8c08667766d04fTest
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p05.029Test -
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المؤلفون: Michael G. Hanna, Shannon L. Venance, Dipa L. Raja Rayan, Jeffrey Statland, Laura Herbelin, Brian N. Bundy, Nina Gorham, Doreen Fialho, Kimberly A. Hart, Jaya Trivedi, Richard J. Barohn, Yunxia Wang, Robert C. Griggs, Anthony A. Amato, Mohammad Salajegheh
المصدر: Neurology. 78:P05.181-P05.181
مصطلحات موضوعية: musculoskeletal diseases, Weakness, medicine.medical_specialty, CLCN1, biology, business.industry, Non dystrophic myotonia, Myotonia, medicine.disease, Episodic weakness, Mutational analysis, Eye closure myotonia, Internal medicine, biology.protein, Medicine, Neurology (clinical), medicine.symptom, business, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7775840d56d0c3787ec2d9ab9ab0f0c6Test
https://doi.org/10.1212/wnl.78.1_meetingabstracts.p05.181Test -
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المؤلفون: J. Burge, Richa Sud, Simona Portaro, Michael G. Hanna, Doreen Fialho, A Haworth, D.L. Raja Rayan, Mary B. Davis, E. Matthews, Alejandro Horga
المصدر: Neuromuscular Disorders. 22:S17
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Neuromuscular disease, Myotonia congenita, business.industry, Prevalence, Skeletal muscle, medicine.disease, Clinical neurology, medicine.anatomical_structure, Neurology, Paramyotonia congenita, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Allelic heterogeneity, Neurology (clinical), Genetic diagnosis, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e0278a6219e04e8e25fe07253d4496eTest
https://doi.org/10.1016/s0960-8966Test(12)70047-0 -
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المؤلفون: Richa Sud, M D Davis, J. Burge, A Haworth, Antonio Toscano, D.L. Raja Rayan, E. Matthews, Michael G. Hanna, Doreen Fialho, Simona Portaro
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 83:e1.124-e1
مصطلحات موضوعية: Genetics, CLCN1, Mutation, genetic structures, biology, Myotonia congenita, business.industry, Point mutation, medicine.disease_cause, Myotonia, medicine.disease, eye diseases, Psychiatry and Mental health, Channelopathy, biology.protein, medicine, Surgery, sense organs, Neurology (clinical), Copy-number variation, Multiplex ligation-dependent probe amplification, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b55bfd14815fe3800a8d587729fab40Test
https://doi.org/10.1136/jnnp-2011-301993.21Test -
48دورية أكاديمية
المؤلفون: Molenaar, Joery P, Verhoeven, Jamie I, Rodenburg, Richard J, Kamsteeg, Erik J, Erasmus, Corrie E, Vicart, Savine, Behin, Anthony, Bassez, Guillaume, Magot, Armelle, Péréon, Yann, Brandom, Barbara W, Guglielmi, Valeria, Vattemi, Gaetano, Chevessier, Frédéric, Mathieu, Jean, Franques, Jérôme, Suetterlin, Karen, Hanna, Michael G, Guyant-Marechal, Lucie, Snoeck, Marc M, Roberts, Mark E, Kuntzer, Thierry, Fernandez-Torron, Roberto, Martínez-Arroyo, Amaia, Seeger, Juergen, Kusters, Benno, Treves, Susan, van Engelen, Baziel G, Eymard, Bruno, Voermans, Nicol C, Sternberg, Damien
المساهمون: Karina Horsting-Wethly, Berendien Stoltenborg-Hogenkamp, and Doreen Fialho
المصدر: Brain ; volume 143, issue 2, page 452-466 ; ISSN 0006-8950 1460-2156
الإتاحة: https://doi.org/10.1093/brain/awz410Test
http://academic.oup.com/brain/article-pdf/143/2/452/32414039/awz410.pdfTest