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1دورية أكاديمية
المؤلفون: Nóbrega, Paulo R, R B de Paiva, Anderson, Souza, Katiane S, de Souza, Jorge Luiz B, G S B Lima, Pedro Lucas, da Silva, Delson José, Pitombeira, Milena Sales, Borges, Viviennee K, Dias, Daniel A, Bispo, Luciana M, Santos, Carolina F, Freua, Fernando, Silva, Paulo Diego S, Alves, Isabela S, Portella, Leonardo B, Cunha, Paulina R, Salomao, Rubens Paulo A, Pedroso, José Luiz, Miyajima, Veridiana P, Miyajima, Fábio, Cali, Elisa, Wade, Charles, Sudarsanam, Annapurna, O'Driscoll, Mary, Hayton, Tom, Barsottini, Orlando GP, Klebe, Stephan, Kok, Fernando, Lucato, Leandro Tavares, Houlden, Henry, Depienne, Christel, Lynch, David S, Braga-Neto, Pedro
المصدر: Brain Communications , 6 (1) , Article fcad273. (2024)
مصطلحات موضوعية: ClC-2 chloride channels, MRI, ataxia, leucoencephalopathies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10185197/1/fcad273.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10185197Test/
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2دورية أكاديمية
المؤلفون: Wade, Charles, Williams, Thomas, Labrum, Robyn, Patel, Yogen, Cali, Elisa, Davagnanam, Indran, Adams, Matthew E, Barkhof, Frederik, Murphy, Elaine, Chataway, Jeremy, Houlden, Henry, Lynch, David S
مصطلحات موضوعية: PostScript
وصف الملف: text/html
العلاقة: http://jnnp.bmj.com/cgi/content/short/95/3/290Test; http://dx.doi.org/10.1136/jnnp-2023-331986Test
الإتاحة: https://doi.org/10.1136/jnnp-2023-331986Test
http://jnnp.bmj.com/cgi/content/short/95/3/290Test -
3رسالة جامعية
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4دورية أكاديمية
المؤلفون: Wade, Charles, Williams, Thomas, Labrum, Robyn, Patel, Yogen, Cali, Elisa, Davagnanam, Indran, Adams, Matthew E, Barkhof, Frederik, Murphy, Elaine, Chataway, Jeremy, Houlden, Henry, Lynch, David S
المصدر: Journal of Neurology, Neurosurgery & Psychiatry (2023) (In press).
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177596/1/jnnp-2023-331986.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177596Test/
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5دورية أكاديمية
المؤلفون: Paiva, Anderson Rodrigues Brandão de, Pessoa, André Luiz Santos, Nóbrega, Paulo Ribeiro, Moreno, Cristiane Araujo Martins, Lynch, David S, Taniguti, Lucas Mitsuo, Kitajima, João Paulo, Freua, Fernando, Della-Ripa, Bruno, Cunha, Paulina, Peixoto de Barcelos, Isabella, Macedo-Souza, Lúcia Inês, Takeuchi, Carlos Augusto, Garcia, Antônio Milton Silva, Nardes, Flávia, Fontão, Ramiro, Antoniuk, Sérgio Antônio, Troncoso, Mónica, Spécola, Norma, Durand, Consuelo, Madeiro, Bianca de Aguiar Coelho Silva, Doriqui, Maria Juliana Rodovalho, Vergara, Diane, Houlden, Henry, Kok, Fernando
المصدر: Journal of Neurology, Neurosurgery and Psychiatry (2023) (In press).
مصطلحات موضوعية: cerebellar ataxia, epilepsy, neurogenetics, paediatric neurology
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10166685/2/Lynch_ceroid%20lipofuscinosis%20type%205%2027.06.2022.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10166685Test/
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6دورية أكاديمية
المؤلفون: Freua, Fernando, Almeida, Mariana Espíndola de Castro, Nóbrega, Paulo Ribeiro, Paiva, Anderson Rodrigues Brandáo de, Della-Ripa, Bruno, Cunha, Paulina, Macedo-Souza, Lúcia Inês, Bueno, Clarissa, Lynch, David S, Houlden, Henry, Lucato, Leandro Tavares, Kok, Fernando
المصدر: Molecular Case Studies , Article mcs.a006232. (2022) (In press).
مصطلحات موضوعية: Focal seizures with impairment of consciousness or awareness, Hypoargininemia, Intellectual disability, moderate, Progressive spastic paraparesis, Progressive spastic paraplegia, Spastic gait
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10157124/1/Lynch_Arginase%201%20deficiency%20presenting%20as%20complicated%20hereditary%20spastic%20paraplegia_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10157124Test/
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7دورية أكاديمية
المؤلفون: Budhdeo, Sanjay, de Paiva, Anderson Rodrigues Brandao, Wade, Charles, Lopes, Laura Cardia Gomes, Della-Ripa, Bruno, Davagnanam, Indran, Lucato, Leandro, Mummery, Catherine J, Kok, Fernando, Houlden, Henry, Werring, David J, Lynch, David S
المصدر: Journal of Neurology , 269 pp. 6673-6677. (2022)
مصطلحات موضوعية: Stroke, Genetics, Small vessel disease, CARASAL, Leukoencephalopathy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153709/2/Wade_CARASAL_report_FINAL_JNeurol_revised.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153709Test/
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8دورية أكاديمية
المؤلفون: Papapetropoulos, Spyros, Pontius, Angela, Finger, Elizabeth, Karrenbauer, Virginija, Lynch, David S., Brennan, Matthew, Zappia, Samantha, Koehler, Wolfgang, Schoels, Ludger, Hayer, Stefanie N., Konno, Takuya, Ikeuchi, Takeshi, Lund, Troy, Orthmann-Murphy, Jennifer, Eichler, Florian, Wszolek, Zbigniew K.
المصدر: Frontiers in Neurology ; volume 12 ; ISSN 1664-2295
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9دورية أكاديمية
المؤلفون: Mackenzie, Strachan, Shafat, Manar, Roddy, Harriet, Hyare, Harpreet, Neill, Lorna, Marzolini, Maria A. V., Gilhooley, Michael, Marafioti, Teresa, Kara, Eleanna, Sanchez, Emilie, Rees, Jeremy, Lynch, David S., Thomson, Kirsty, Ardeshna, Kirit M., Laurence, Arian, Peggs, Karl S., O'Reilly, Maeve, Roddie, Claire
المصدر: eJHaem ; volume 2, issue 4, page 848-853 ; ISSN 2688-6146 2688-6146
الإتاحة: https://doi.org/10.1002/jha2.274Test
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10دورية أكاديمية
المؤلفون: Williams, Thomas, Houlden, Henry, Murphy, Elaine, John, Nevin, Fox, Nick C, Schott, Jonathan M, Adams, Matthew, Davagananam, Indran, Chataway, Jeremy, Lynch, David S
مصطلحات موضوعية: Review
وصف الملف: text/html
العلاقة: http://pn.bmj.com/cgi/content/short/20/4/280Test; http://dx.doi.org/10.1136/practneurol-2020-002530Test
الإتاحة: https://doi.org/10.1136/practneurol-2020-002530Test
http://pn.bmj.com/cgi/content/short/20/4/280Test
