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1دورية أكاديمية
المؤلفون: Costa B., Manzoni C., Bernal-Quiros M., Kia D. A., Aguilar M., Alvarez I., Alvarez V., Andreassen O. A., Anfossi M., Bagnoli S., Benussi L., Bernardi L., Binetti G., Blackburn D. J., Boada M., Borroni B., Bowns L., Brathen G., Bruni A. C., Chiang H. -H., Clarimon J., Colville S., Conidi M. E., Cope T. E., Cruchaga C., Cupidi C., Di Battista M. E., Diehl-Schmid J., Diez-Fairen M., Dols-Icardo O., Durante E., Flisar D., Frangipane F., Galimberti D., Gallo M., Gallucci M., Ghidoni R., Graff C., Grafman J. H., Grossman M., Hardy J., Hernandez I., Holloway G. J. T., Huey E. D., Illan-Gala I., Karydas A., Khoshnood B., Kramberger M. G., Kristiansen M., Lewis P. A., Lleo A., Madhan G. K., Maletta R., Maver A., Menendez-Gonzalez M., Milan G., Miller B. L., Mol M. O., Momeni P., Moreno-Grau S., Morris C. M., Nacmias B., Nilsson C., Novelli V., Oijerstedt L., Padovani A., Pal S., Panchbhaya Y., Pastor P., Peterlin B., Piaceri I., Pickering-Brown S., Pijnenburg Y. A. L., Puca A. A., Rainero I., Rendina A., Richardson A. M. T., Rogaeva E., Rogelj B., Rollinson S., Rossi G., Rossmeier C., Rowe J. B., Rubino E., Ruiz A., Sanchez-Valle R., Sando S. B., Santillo A. F., Saxon J., Scarpini E., Serpente M., Smirne N., Sorbi S., Suh E., Tagliavini F., Thompson J. C., Trojanowski J. Q., van Deerlin V. M., van der Zee J., van Broeckhoven C., van Rooij J. G. J., van Swieten J. C., Veronesi A., Vitale E., Waldo M. L., Woodward C., Yokoyama J. S., Escott-Price V., Polke J. M., Ferrari R.
المساهمون: Costa B., Manzoni C., Bernal-Quiros M., Kia D.A., Aguilar M., Alvarez I., Alvarez V., Andreassen O.A., Anfossi M., Bagnoli S., Benussi L., Bernardi L., Binetti G., Blackburn D.J., Boada M., Borroni B., Bowns L., Brathen G., Bruni A.C., Chiang H.-H., Clarimon J., Colville S., Conidi M.E., Cope T.E., Cruchaga C., Cupidi C., Di Battista M.E., Diehl-Schmid J., Diez-Fairen M., Dols-Icardo O., Durante E., Flisar D., Frangipane F., Galimberti D., Gallo M., Gallucci M., Ghidoni R., Graff C., Grafman J.H., Grossman M., Hardy J., Hernandez I., Holloway G.J.T., Huey E.D., Illan-Gala I., Karydas A., Khoshnood B., Kramberger M.G., Kristiansen M., Lewis P.A., Lleo A., Madhan G.K., Maletta R., Maver A., Menendez-Gonzalez M., Milan G., Miller B.L., Mol M.O., Momeni P., Moreno-Grau S., Morris C.M., Nacmias B., Nilsson C., Novelli V., Oijerstedt L., Padovani A., Pal S., Panchbhaya Y., Pastor P., Peterlin B., Piaceri I., Pickering-Brown S., Pijnenburg Y.A.L., Puca A.A., Rainero I., Rendina A., Richardson A.M.T., Rogaeva E., Rogelj B., Rollinson S., Rossi G., Rossmeier C., Rowe J.B., Rubino E., Ruiz A., Sanchez-Valle R., Sando S.B., Santillo A.F., Saxon J., Scarpini E., Serpente M., Smirne N., Sorbi S., Suh E., Tagliavini F., Thompson J.C., Trojanowski J.Q., van Deerlin V.M., van der Zee J., van Broeckhoven C.
مصطلحات موضوعية: Age of Onset, Aged, 80 and over, Aphasia, Primary Progressive, C9orf72 Protein, Cohort Studie, DNA Repeat Expansion, Europe, Female, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, Geography, Human, Male, Mediterranean Region, Middle Aged, Principal Component Analysi, Scandinavian and Nordic Countrie, Syndrome
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32943482; info:eu-repo/semantics/altIdentifier/wos/WOS:000607315800025; volume:95; issue:24; firstpage:E3288; lastpage:E3302; numberofpages:14; journal:NEUROLOGY; http://hdl.handle.net/2318/1783264Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85098531165
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2دورية أكاديمية
المؤلفون: Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/115999/1/s41380-018-0224-0.pdfTest; Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0156904.htmlTest orcid:0000-0002-4069-0259 orcid:0000-0002-4069-0259, Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J. and Mead, S. 2020. Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Molecular Psychiatry 25 , pp. 3399-3412. 10.1038/s41380-018-0224-0 https://doi.org/10.1038/s41380-018-0224-0Test file https://orca.cardiff.ac.uk/id/eprint/115999/1/s41380-018-0224-0.pdfTest
الإتاحة: https://doi.org/10.1038/s41380-018-0224-0Test
https://orca.cardiff.ac.uk/id/eprint/115999Test/
https://orca.cardiff.ac.uk/id/eprint/115999/1/s41380-018-0224-0.pdfTest -
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المؤلفون: O'Connor, A., Karikari, Thomas, Poole, T., Ashton, Nicholas J., Rodriguez, Juan, 1983, Khatun, A., Swift, I., Heslegrave, A. J., Abel, E., Chung, E., Weston, P. S. J., Pavisic, I. M., Ryan, N. S., Barker, S., Rossor, M. N., Polke, J. M., Frost, C., Mead, S., Blennow, Kaj, 1958, Zetterberg, Henrik, 1973, Fox, N. C.
المصدر: Molecular Psychiatry. 26:5967-5976
مصطلحات موضوعية: Neurosciences, Neurovetenskaper, biomarkers, diagnosis, tau, Biochemistry & Molecular Biology, Neurosciences & Neurology, Psychiatry
الوصول الحر: https://gup.ub.gu.se/publication/295155Test
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4دورية أكاديمية
المؤلفون: Pipis M., Cortese A., Polke J. M., Poh R., Vandrovcova J., Laura M., Skorupinska M., Jacquier A., Juntas-Morales R., Latour P., Petiot P., Sole G., Fromes Y., Shah S., Blake J., Choi B. -O., Chung K. W., Stojkovic T., Rossor A. M., Reilly M. M.
المساهمون: Pipis, M., Cortese, A., Polke, J. M., Poh, R., Vandrovcova, J., Laura, M., Skorupinska, M., Jacquier, A., Juntas-Morales, R., Latour, P., Petiot, P., Sole, G., Fromes, Y., Shah, S., Blake, J., Choi, B. -O., Chung, K. W., Stojkovic, T., Rossor, A. M., Reilly, M. M.
مصطلحات موضوعية: HMSN (Charcot-Marie-Tooth), neurogenetic, neuromuscular, neuropathy, Adult, Charcot-Marie-Tooth Disease, Exon, Female, Genotype, Heterozygote, Human, Intermediate Filament, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neurofilament Protein, Neuron, Pedigree, Phenotype, Sural Nerve, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34518334; info:eu-repo/semantics/altIdentifier/wos/WOS:000725045300001; volume:93; issue:1; firstpage:48; lastpage:56; numberofpages:9; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11571/1450133Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122772584; https://jnnp.bmj.com/content/93/1/48Test
الإتاحة: https://doi.org/10.1136/jnnp-2021-327186Test
http://hdl.handle.net/11571/1450133Test
https://jnnp.bmj.com/content/93/1/48Test -
5دورية أكاديمية
المؤلفون: Koriath, C., Kenny, J., Adamson, G., Druyeh, R., Taylor, W., Beck, J., Quinn, L., Mok, T. H., Dimitriadis, A., Norsworthy, P., Bass, N., Carter, J., Walker, Z., Kipps, C., Coulthard, E., Polke, J. M., Bernal-Quiros, M., Denning, N., Thomas, R., Raybould, R., Williams, J., Mummery, C. J., Wild, E. J., Houlden, H., Tabrizi, S. J., Rossor, M. N., Hummerich, H., Warren, J. D., Rowe, J. B., Rohrer, J. D., Schott, J. M., Fox, N. C., Collinge, J., Mead, S.
المساهمون: Medical Research Council
المصدر: Molecular Psychiatry ; volume 25, issue 12, page 3399-3412 ; ISSN 1359-4184 1476-5578
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Psychiatry and Mental health, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41380-018-0224-0Test
http://www.nature.com/articles/s41380-018-0224-0.pdfTest
http://www.nature.com/articles/s41380-018-0224-0Test -
6دورية أكاديمية
المؤلفون: Saveri P., De Luca M., Nisi V., Pisciotta C., Romano R., Piscosquito G., Reilly M. M., Polke J. M., Cavallaro T., Fabrizi G. M., Fossa P., Cichero E., Lombardi R., Lauria G., Magri S., Taroni F., Pareyson D., Bucci C.
المساهمون: Saveri, P., De Luca, M., Nisi, V., Pisciotta, C., Romano, R., Piscosquito, G., Reilly, M. M., Polke, J. M., Cavallaro, T., Fabrizi, G. M., Fossa, P., Cichero, E., Lombardi, R., Lauria, G., Magri, S., Taroni, F., Pareyson, D., Bucci, C.
مصطلحات موضوعية: autophagy, axon, Charcot–Marie–Tooth disease type 2B, CMT2B, EGFR, endocytosi, lysosome, mutation, neurite outgrowth, NGF, peripheral sensory neuropathy, RAB7, RAB7A
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000535559500239; volume:9; firstpage:1028; numberofpages:21; journal:CELLS; http://hdl.handle.net/11587/447144Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084030726
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7دورية أكاديمية
المؤلفون: Cortese A., Wilcox J. E., Polke J. M., Poh R., Skorupinska M., Rossor A. M., Laura M., Tomaselli P. J., Houlden H., Shy M. E., Reilly M. M.
المساهمون: Cortese, A., Wilcox, J. E., Polke, J. M., Poh, R., Skorupinska, M., Rossor, A. M., Laura, M., Tomaselli, P. J., Houlden, H., Shy, M. E., Reilly, M. M.
مصطلحات موضوعية: Adult, Age of Onset, Aged, Charcot-Marie-Tooth Disease, Cohort Studie, Consanguinity, Demyelinating Disease, Family, Female, Gene Dosage, Gene Duplication, High-Throughput Nucleotide Sequencing, Human, Male, Middle Aged, Mutation, Prospective Studie, Risk Factors
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31827005; info:eu-repo/semantics/altIdentifier/wos/WOS:000582378000020; volume:94; issue:1; firstpage:e51; lastpage:e61; numberofpages:10; journal:NEUROLOGY; http://hdl.handle.net/11571/1350554Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077401475; https://n.neurology.org/content/94/1/e51.longTest
الإتاحة: https://doi.org/10.1212/WNL.0000000000008672Test
http://hdl.handle.net/11571/1350554Test
https://n.neurology.org/content/94/1/e51.longTest -
8دورية أكاديمية
المؤلفون: Horga A., Bugiardini E., Manole A., Bremner F., Jaunmuktane Z., Dankwa L., Rebelo A. P., Woodward C. E., Hargreaves I. P., Cortese A., Pittman A. M., Brandner S., Polke J. M., Pitceathly R. D. S., Zuchner S., Hanna M. G., Scherer S. S., Houlden H., Reilly M. M.
المساهمون: Horga, A., Bugiardini, E., Manole, A., Bremner, F., Jaunmuktane, Z., Dankwa, L., Rebelo, A. P., Woodward, C. E., Hargreaves, I. P., Cortese, A., Pittman, A. M., Brandner, S., Polke, J. M., Pitceathly, R. D. S., Zuchner, S., Hanna, M. G., Scherer, S. S., Houlden, H., Reilly, M. M.
مصطلحات موضوعية: 3-METHYLGLUTACONIC ACIDURIA, OPA3 GENE, MUTATION, EXPRESSION, MODEL
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31119193; info:eu-repo/semantics/altIdentifier/wos/WOS:000481665200012; volume:5; issue:2; firstpage:e322; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/11571/1349918Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065084491; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639Test/
الإتاحة: https://doi.org/10.1212/NXG.0000000000000322Test
http://hdl.handle.net/11571/1349918Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501639Test/ -
9دورية أكاديمية
المؤلفون: Murphy, S, Pandraud, A, Liu, Y, Fawcett, K, Polke, J M, Davidson, G, Laura, M, Davis, M, Houlden, H, Reilly, M M
مصطلحات موضوعية: ABN abstracts
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/83/3/e1-oTest; http://dx.doi.org/10.1136/jnnp-2011-301993.15Test
الإتاحة: https://doi.org/10.1136/jnnp-2011-301993.15Test
http://jnnp.bmj.com/cgi/content/short/83/3/e1-oTest -
10دورية أكاديمية
المؤلفون: Koutsis, G., Pandraud, A., Polke, J. M., Wood, N. W., Panas, M., Karadima, G., Houlden, H.
المصدر: Brain ; volume 135, issue 8, page e217-e217 ; ISSN 0006-8950 1460-2156
مصطلحات موضوعية: Neurology (clinical)
الإتاحة: https://doi.org/10.1093/brain/aws034Test
http://academic.oup.com/brain/article-pdf/135/8/e217/859949/aws034.pdfTest
