المؤلفون: Katina Aleksovska, Teia Kobulashvili, Joao Costa, Georg Zimmermann, Karen Ritchie, Carola Reinhard, Luca Vignatelli, Alessandra Fanciulli, Maxwel Damian, Lucia Pavlakova, Jean‐Marc Burgunder, Svetlana Kopishinskaya, Martin Rakusa, Norbert Kovacs, Fusun Ferda Erdogan, Lori Renna Linton, Massimiliano Copetti, Costanza Lamperti, Serenella Servidei, Theresina Evangelista, Segolene Ayme, Davide Pareyson, Johann Sellner, Christian Krarup, Marianne de Visser, Peter van den Bergh, Antonio Toscano, Holm Graessner, Thomas Berger, Claudio Bassetti, Marie Vidailhet, Eugene Trinka, Guenther Deuschl, Antonio Federico, Maurizio A. Leone

المساهمون: Repositório da Universidade de Lisboa, Neurology, ANS - Neuroinfection & -inflammation

المصدر: European journal of neurology, 29(6), 1571-1586. Wiley-Blackwell

مصطلحات موضوعية: AGREE, recommendation, consensus, neurology, Practice Guidelines as Topic, Humans, rare diseases, Neurology (clinical), Nervous System Diseases, 610 Medicine & health, Delphi, guideline

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656400a6389d2f66ec5d4fad84207509Test
http://www.scopus.com/inward/record.url?scp=85127364547&partnerID=8YFLogxKTest

المؤلفون: Maxwell S. Damian, Lori Renna Linton, Lucia Pavlakova, Claudio L. Bassetti, Maurizio Leone, Thomas Berger, Antonio Toscano, Günther Deuschl, Massimiliano Copetti, Costanza Lamperti, Georg Zimmermann, Johann Sellner, Eugene Trinka, Teia Kobulashvili, Katina Aleksovska, Antonio Federico, Fusun Erdogan, Alessandra Fanciulli, Marianne de Visser, Jean-Marc Burgunder, Martin Rakusa, Luca Vignatelli, Carola Reinhard, Norbert Kovács, Ségolène Aymé, João Costa, Svetlana Kopishinskaya, Peter Van den Bergh, Karen Ritchie, Holm Graessner, Marie Vidailhet, Serenella Servidei, Christian Krarup, Davide Pareyson, Theresina Evangelista

مصطلحات موضوعية: Clinical Practice, medicine.medical_specialty, Neurology, business.industry, Medicine, Neurology (clinical), business, Intensive care medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baabab69bc6214e337c53c587b4253ebTest
https://avesis.erciyes.edu.tr/publication/details/57242475-0f20-4a25-99be-47c6bd07c1a2/oaiTest

المؤلفون: Svetlana Kopishinskaya Vasilyevna, Светлана Копишинская Васильевна

المساهمون: профессор А.В.Густов

المصدر: Neurology, Neuropsychiatry, Psychosomatics; Vol 7, No 3 (2015); 75-79 ; Неврология, нейропсихиатрия, психосоматика; Vol 7, No 3 (2015); 75-79 ; 2310-1342 ; 2074-2711 ; 10.14412/2074-2711-2015-3

مصطلحات موضوعية: ataxia, polyneuropathy, celiac disease, gluten, атаксия, полиневропатия, целиакия, глютен

وصف الملف: application/pdf

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Gluten-free diet in gluten-related disorders. Dig Dis. 2013;31(1):57-62. doi:10.1159/000347180. Epub 2013 Jun 17.; Kaukinen K, Lindfors K, MКki M. Advances in the treatment of coeliac disease: an immunopathogenic perspective. Nat Rev Gastroenterol Hepatol. 2014 Jan;11(1):36-44. doi:10.1038/nrgastro.2013.141. Epub 2013 Aug 6.; Sollid LM, Khosla C. Novel therapies for coeliac disease. J Intern Med. 2011 Jun;269(6):604-13. doi:10.1111/j.1365-2796.2011.02376.x.; Szmulewicz DJ, McLean CA, Rodriguez ML, et al. Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS. Neurology. 2014 Apr 22;82(16): 1410-5. doi:10.1212/WNL.0000000000000352. Epub 2014 Mar 28.; Lines MA, Jobling R, Brady L, et al. Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology. 2014 Mar 18;82(11):963-8. doi:10.1212/WNL.0000000000000219. Epub 2014 Feb 19.; Shimazaki H, Honda J, Naoi T, et al. 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Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2. Pediatr Neurol. 2013 Dec;49(6):477-81. doi:10.1016/j.pediatrneurol.2013.07.012. Epub 2013 Oct 1.; Lovan A, Ihtsham ul Haq, Balakrishnan N. Diagnostic challenges in movement disorders: Sensory Ataxia Neuropathy Dysarthria and Ophthalmoplegia (SANDO) syndrome. BMJ Case Rep. 2013 Aug 30;2013. pii: bcr2013010343. doi:10.1136/bcr-2013-010343.; Swarup V, Srivastava AK, Padma MV, Rajeswari MR. Quantitative profiling and identification of differentially expressed plasma proteins in Friedreich's ataxia. J Neurosci Res. 2013 Nov;91(11):1483-91. doi:10.1002/jnr.23262. Epub 2013 Aug 30.; Duquette A, Brais B, Bouchard JP, Mathieu J. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. Mov Disord. 2013 Dec;28(14):2011-4. doi:10.1002/mds.25604. Epub 2013 Aug 2.; Luigetti M, Padua L, Mazza S, et al. Clinical-neurophysiological correlations in a series of patients with IgM-related neuropathy. Clin Neurophysiol. 2013 Sep;124(9):1899-903. doi:10.1016/j.clinph.2013.02.116. Epub 2013 May 1.; Mancuso M, Orsucci D, Angelini C, et al. Phenotypic heterogeneity of the 8344A>G mtDNA «MERRF» mutation. Neurology. 2013 May 28;80(22):2049-54. doi:10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.; Stumpf JD, Saneto RP, Copeland WC. Clinical and molecular features of POLG-related mitochondrial disease. Cold Spring Harb Perspect Biol. 2013 Apr 1;5(4):a011395. doi:10.1101/cshperspect.a011395.; Debs R, Froissart R, Aubourg P, et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis. 2013;36(5):859-68.; Lagarde J, Roze E, Apartis E, et al. Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov Disord. 2012 Dec;27(14):1805-10. doi:10.1002/mds.25206. Epub 2012 Oct 31.; Hammer MB, El Euch-Fayache G, Nehdi H, et al. Clinical and molecular findings of ataxia with oculomotor apraxia type 2 (AOA2) in 5 Tunisian families. 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الإتاحة: https://doi.org/10.14412/2074-2711-2015-3-75-79Test
https://doi.org/10.14412/2074-2711-2015-3Test
https://doi.org/10.3748/wjg.v18.i42.6036Test
https://doi.org/10.1186/1741-7015-10-13Test
https://doi.org/10.1111/j.1440-1789.2009.01042.xTest
https://doi.org/10.1007/s12311-008-0052-xTest
https://doi.org/10.1007/s10072Test
https://doi.org/10.1002/ana.21450Test
https://doi.org/10.1111/j.1600-0404.2011.01620.xTest
https://doi.org/10.1159/000347180Test

المؤلفون: Maria Kolchanova, S N Svetozarskiy, Svetlana Kopishinskaya

المصدر: Imaging.

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, Receiver operating characteristic, medicine.diagnostic_test, business.industry, Neurodegeneration, Nerve fiber layer, Retinal, medicine.disease, Retinal ganglion, eye diseases, chemistry.chemical_compound, medicine.anatomical_structure, Huntington's disease, chemistry, Optical coherence tomography, Ophthalmology, medicine, Biomarker (medicine), sense organs, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ea4e2a630c82dfa5e44716bd3b400ccTest
https://doi.org/10.1136/jnnp-2018-ehdn.106Test