المؤلفون: Amato, AA, Hanna, MG, Machado, PM, Badrising, UA, Chinoy, H, Benveniste, O, Karanam, AK, Wu, M, Tankó, LB, Schubert-Tennigkeit, AA, Papanicolaou, DA, Lloyd, TE, Needham, M, Liang, C, Reardon, KA, de Visser, M, Ascherman, DP, Barohn, RJ, Dimachkie, MM, Miller, JAL, Kissel, JT, Oskarsson, B, Joyce, NC, Van den Bergh, P, Baets, J, De Bleecker, JL, Karam, C, David, WS, Mirabella, M, Nations, SP, Jung, HH, Pegoraro, E, Maggi, L, Rodolico, C, Filosto, M, Shaibani, AI, Sivakumar, K, Goyal, NA, Mori-Yoshimura, M, Yamashita, S, Suzuki, N, Aoki, M, Katsuno, M, Morihata, H, Murata, K, Nodera, H, Nishino, I, Romano, CD, Williams, VSL, Vissing, J, Auberson, LZ, RESILIENT Study Extension Group

المصدر: Neurology , 96 (12) e1595-e1607. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10125326/3/Machado_Efficacy%20and%20Safety%20of%20Bimagrumab%20in%20Sporadic%20Inclusion%20Body%20Myositis.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10125326Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10125326/3/Machado_Efficacy%20and%20Safety%20of%20Bimagrumab%20in%20Sporadic%20Inclusion%20Body%20Myositis.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10125326Test/

المؤلفون: Macken, WL, Vandrovcova, J, Hanna, MG, Pitceathly, RDS

المصدر: Nature reviews. Neurology , 17 pp. 215-230. (2021)

مصطلحات موضوعية: Genetics research, Metabolic disorders, Neuromuscular disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124985/1/UCL_Mito_Manuscript_clean.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124985Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124985/1/UCL_Mito_Manuscript_clean.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124985Test/

المؤلفون: Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, ., Amato, AA, Gregory, A, Hayflick, SJ, Genomics, QS, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

المصدر: Annals of Neurology (2021) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124258/7/Pizzamiglio_Mitochondrial%20DNA%20analysis%20from%20exome%20sequencing%20data%20improves%20the%20diagnostic%20yield%20in%20neurological%20diseases_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124258Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124258/7/Pizzamiglio_Mitochondrial%20DNA%20analysis%20from%20exome%20sequencing%20data%20improves%20the%20diagnostic%20yield%20in%20neurological%20diseases_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124258Test/

المؤلفون: Falabella, M, Vernon, HJ, Hanna, MG, Claypool, SM, Pitceathly, RDS

المصدر: Trends in Endocrinology & Metabolism (2021) (In press).

مصطلحات موضوعية: cardiolipin, lipids, mitochondria, mitochondrial disease, nervous system, neurodegeneration

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10123506/1/1-s2.0-S1043276021000266-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10123506Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10123506/1/1-s2.0-S1043276021000266-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10123506Test/

المؤلفون: Suetterlin, K, Männikkö, R, Flossmann, E, Sud, R, Fialho, D, Vivekanandam, V, James, N, Gossios, TD, Hanna, MG, Savvatis, K, Matthews, E

المصدر: Journal of Neuromuscular Diseases , 8 (1) pp. 151-154. (2021)

مصطلحات موضوعية: Arrhythmia, heart-block, periodic paralysis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10122215/3/Matthews_Heart%20block%20ATS%20JNMD%20revised%2007%2009%202020.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10122215Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10122215/3/Matthews_Heart%20block%20ATS%20JNMD%20revised%2007%2009%202020.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10122215Test/

المؤلفون: Li, J, Duran, MA, Dhanota, N, Chatila, WK, Bettigole, SE, Kwon, J, Sriram, RK, Humphries, MP, Salto-Tellez, M, James, JA, Hanna, MG, Melms, JC, Vallabhaneni, S, Litchfield, K, Usaite, I, Biswas, D, Bareja, R, Li, HW, Martin, ML, Dorsaint, P, Cavallo, J-A, Li, P, Pauli, C, Gottesdiener, L, DiPardo, BJ, Hollmann, TJ, Merghoub, T, Wen, HY, Reis-Filho, JS, Riaz, N, Su, S-SM, Kalbasi, A, Vasan, N, Powell, SN, Wolchok, JD, Elemento, O, Swanton, C, Shoushtari, AN, Parkes, EE, Izar, B, Bakhoum, SF

المصدر: Cancer Discovery , 11 (5) pp. 1212-1227. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118670/3/Litchfield_Metastasis%20and%20immune%20evasion%20from%20extracellular%20cGAMP%20hydrolysis_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118670Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118670/3/Litchfield_Metastasis%20and%20immune%20evasion%20from%20extracellular%20cGAMP%20hydrolysis_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118670Test/

المؤلفون: Suetterlin, KJ, Vivekanandam, V, James, N, Sud, R, Holmes, S, Fialho, D, Hanna, MG, Matthews, EL

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115920/1/CPJ.0000000000000761.pdfTest; Suetterlin, KJ; Vivekanandam, V; James, N; Sud, R; Holmes, S; Fialho, D; Hanna, MG; Matthews, EL (2021) Annual Renal Ultrasound May Prevent Acute Presentation With Acetazolamide-Associated Urolithiasis. Neurol Clin Pract, 11 (1). e40-e42. ISSN 2163-0402 https://doi.org/10.1212/CPJ.0000000000000761Test SGUL Authors: Matthews, Emma Louise

الإتاحة: https://doi.org/10.1212/CPJ.0000000000000761Test
https://openaccess.sgul.ac.uk/id/eprint/115920Test/
https://openaccess.sgul.ac.uk/id/eprint/115920/1/CPJ.0000000000000761.pdfTest

المؤلفون: Suetterlin, KJ, Tan, SV, Mannikko, R, Phadke, R, Orford, M, Eaton, S, Sayer, AA, Grounds, MD, Matthews, E, Greensmith, L, Hanna, MG

وصف الملف: application/pdf; application/zip; image/png; application/vnd.ms-excel; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113830/3/rco2.41.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113830/8/rco2_41-sup-0001-figure%20s1.zipTest; https://openaccess.sgul.ac.uk/id/eprint/113830/9/rco2_41-sup-0002-figure%20s2.pngTest; https://openaccess.sgul.ac.uk/id/eprint/113830/15/rco2_41-sup-0003-data_s1.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/113830/1/JCSM_Comms_Revised%20RCO2-D-20-00020%2002032021.docxTest; Suetterlin, KJ; Tan, SV; Mannikko, R; Phadke, R; Orford, M; Eaton, S; Sayer, AA; Grounds, MD; Matthews, E; Greensmith, L; et al. Suetterlin, KJ; Tan, SV; Mannikko, R; Phadke, R; Orford, M; Eaton, S; Sayer, AA; Grounds, MD; Matthews, E; Greensmith, L; Hanna, MG (2021) Ageing contributes to phenotype transition in a mouse model of periodic paralysis. JCSM Rapid Communications, 4 (2). pp. 245-259. ISSN 2617-1619 https://doi.org/10.1002/rco2.41Test SGUL Authors: Matthews, Emma Louise

الإتاحة: https://doi.org/10.1002/rco2.41Test
https://openaccess.sgul.ac.uk/id/eprint/113830Test/
https://openaccess.sgul.ac.uk/id/eprint/113830/3/rco2.41.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113830/8/rco2_41-sup-0001-figure%20s1.zipTest
https://openaccess.sgul.ac.uk/id/eprint/113830/9/rco2_41-sup-0002-figure%20s2.pngTest
https://openaccess.sgul.ac.uk/id/eprint/113830/15/rco2_41-sup-0003-data_s1.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/113830/1/JCSM_Comms_Revised%20RCO2-D-20-00020%2002032021.docxTest

المؤلفون: Poole, OV, Pizzamiglio, C, Murphy, D, Falabella, M, Macken, WL, Bugiardini, E, Woodward, CE, Labrum, R, Efthymiou, S, Salpietro, V, Chelban, V, Kaiyrzhanov, R, Maroofian, R, SYNaPS Study Group, Amato, AA, Gregory, A, Hayflick, SJ, Queen Square Genomics, Jonvik, H, Wood, N, Houlden, H, Vandrovcova, J, Hanna, MG, Pittman, A, Pitceathly, RDS

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113089/6/ana.26063.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113089/1/ana.26063.pdfTest; Poole, OV; Pizzamiglio, C; Murphy, D; Falabella, M; Macken, WL; Bugiardini, E; Woodward, CE; Labrum, R; Efthymiou, S; Salpietro, V; et al. Poole, OV; Pizzamiglio, C; Murphy, D; Falabella, M; Macken, WL; Bugiardini, E; Woodward, CE; Labrum, R; Efthymiou, S; Salpietro, V; Chelban, V; Kaiyrzhanov, R; Maroofian, R; SYNaPS Study Group; Amato, AA; Gregory, A; Hayflick, SJ; Queen Square Genomics; Jonvik, H; Wood, N; Houlden, H; Vandrovcova, J; Hanna, MG; Pittman, A; Pitceathly, RDS (2021) Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Ann Neurol, 89 (6). pp. 1240-1247. ISSN 1531-8249 https://doi.org/10.1002/ana.26063Test SGUL Authors: Maroofian, Reza Pittman, Alan Michael

الإتاحة: https://doi.org/10.1002/ana.26063Test
https://openaccess.sgul.ac.uk/id/eprint/113089Test/
https://openaccess.sgul.ac.uk/id/eprint/113089/6/ana.26063.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113089/1/ana.26063.pdfTest

المؤلفون: Pantic, B, Ives, D, Mennuni, M, Perez-Rodriguez, D, Fernandez-Pelayo, U, Lopez de Arbina, A, Muñoz-Oreja, M, Villar-Fernandez, M, Dang, T-MJ, Vergani, L, Johnston, IG, Pitceathly, RDS, McFarland, R, Hanna, MG, Taylor, RW, Holt, IJ, Spinazzola, A

المصدر: Nature Communications , 12 (1) , Article 6997. (2021)

مصطلحات موضوعية: DNA metabolism, Energy metabolism, Molecular medicine

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139799Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139799/1/Pantic_et_al-2021-Nature_Communications.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139799Test/