المؤلفون: Owe, SG, Jensen, V, Evergren, E, Ruiz, A, Shupliakov, O, Kullmann, DM, Storm-Mathisen, J, Walaas, SI, Hvalby, O, Bergersen, LH

المصدر: Cerebral cortex (New York, N.Y. : 1991). 19(3):511-523

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:118272024Test

المؤلفون: Sisodiya, SM, Gulcebi, MI, Fortunato, F, Mills, JD, Haynes, E, Bramon, E, Chadwick, P, Ciccarelli, O, David, AS, De Meyer, K, Fox, NC, Davan Wetton, J, Koltzenburg, M, Kullmann, DM, Kurian, MA, Manji, H, Maslin, MA, Matharu, M, Montgomery, H, Romanello, M, Werring, DJ, Zhang, L, Friston, KJ, Hanna, MG

المصدر: The Lancet Neurology , 23 (6) pp. 636-648. (2024)

مصطلحات موضوعية: Humans, Climate Change, Nervous System Diseases

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10192724Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10192724Test/

المؤلفون: Suetterlin, K, Matthews, E, Sud, R, McCall, S, Fialho, D, Burge, J, Jayaseelan, D, Haworth, A, Sweeney, MG, Kullmann, DM, Schorge, S, Hanna, MG, Männikkö, R

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113743/11/awab344.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113743/6/awab344_supplementary_data.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113743/1/awab344.pdfTest; Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; Haworth, A; Sweeney, MG; Kullmann, DM; et al. Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; Haworth, A; Sweeney, MG; Kullmann, DM; Schorge, S; Hanna, MG; Männikkö, R (2022) Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Brain, 145 (2). pp. 607-620. ISSN 1460-2156 https://doi.org/10.1093/brain/awab344Test SGUL Authors: Haworth, Andrea Matthews, Emma Louise

الإتاحة: https://doi.org/10.1093/brain/awab344Test
https://openaccess.sgul.ac.uk/id/eprint/113743Test/
https://openaccess.sgul.ac.uk/id/eprint/113743/11/awab344.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113743/6/awab344_supplementary_data.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113743/1/awab344.pdfTest

المؤلفون: Suetterlin, K, Matthews, E, Sud, R, McCall, S, Fialho, D, Burge, J, Jayaseelan, D, Haworth, A, Sweeney, MG, Kullmann, DM, Schorge, S, Hanna, MG, Männikkö, R

المصدر: Brain (2021) (In press).

مصطلحات موضوعية: skeletal muscle channelopathy, chloride channel, myotonia congenita, ClC-1, CLCN1

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135751/1/awab344.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135751Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135751/1/awab344.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135751Test/

المؤلفون: Karunaratne, K, Ahrabian, D, Monoghan, B, Campion, T, Yousry, T, Lunn, MP, Zandi, MS, Howard, RS, Kullmann, DM, Spillane, J, Walker, M, Chataway, J

المصدر: BMJ Open Neurology , 3 (1) , Article e000096. (2021)

مصطلحات موضوعية: NMDA, multiple sclerosis

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10129184/1/bmjno-2020-000096.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10129184Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10129184/1/bmjno-2020-000096.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10129184Test/

المؤلفون: Kerin, B, Rajakulendran, S, Kullmann, DM, Neligan, A, Walker, MC

المصدر: Seizure , 85 pp. 90-94. (2021)

مصطلحات موضوعية: Morbidity, Mortality, Outcome, SRSE

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10121190/3/Walker_A%20retrospective%20cohort%20study%20of%20super-refractory%20status%20epilepticus%20in%20a%20tertiary%20neuro-ICU%20settin_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10121190Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10121190/3/Walker_A%20retrospective%20cohort%20study%20of%20super-refractory%20status%20epilepticus%20in%20a%20tertiary%20neuro-ICU%20settin_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10121190Test/

المؤلفون: Kratschmer, P, Lowe, SA, Buhl, E, Chen, K-F, Kullmann, DM, Pittman, A, Hodge, JJL, Jepson, JEC

المصدر: Movement Disorders (2021) (In press).

مصطلحات موضوعية: BK channel, Drosophila, central pattern generator, locomotion, paroxysmal dyskinesia, pre-motor circuit, slowpoke

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10119389/1/mds.28479.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10119389Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10119389/1/mds.28479.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10119389Test/

المؤلفون: Nicholson, E, Kullmann, DM

المصدر: The Journal of Physiology , 599 (2) pp. 667-676. (2021)

مصطلحات موضوعية: interneurons, nicotinic, synaptic plasticity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10116911/7/Kullmann_JP280397VOR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10116911Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10116911/7/Kullmann_JP280397VOR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10116911Test/

المؤلفون: Salpietro V, Galassi Deforie V, Efthymiou S, O'Connor E, Marcé-Grau A, Maroofian R, Striano P, Zara F, Morrow MM, SYNAPS Study Group, Aguennouz M, Di Rosa G, Reich A, Blevins A, Sala-Coromina J, Accogli A, Fortuna S, Alesandrini M, Au PYB, Singhal NS, Cogne B, Isidor B, Hanna MG, Macaya A, Kullmann DM, Houlden H, Männikkö R

المساهمون: Salpietro, V, Galassi Deforie, V, Efthymiou, S, O'Connor, E, Marcé-Grau, A, Maroofian, R, Striano, P, Zara, F, Morrow, Mm, SYNAPS Study, Group, Aguennouz, M, Di Rosa, G, Reich, A, Blevins, A, Sala-Coromina, J, Accogli, A, Fortuna, S, Alesandrini, M, Au, Pyb, Singhal, N, Cogne, B, Isidor, B, Hanna, Mg, Macaya, A, Kullmann, Dm, Houlden, H, Männikkö, R

مصطلحات موضوعية: KV1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing

العلاقة: firstpage:443; lastpage:455; numberofpages:13; journal:EPILEPSIA; https://hdl.handle.net/11570/3268830Test

الإتاحة: https://hdl.handle.net/11570/3268830Test

المؤلفون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H

المساهمون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H

مصطلحات موضوعية: Next-generation sequencing, Synaptic development, Ion channels in the nervous system, Neurodevelopmental disorders

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31300657; info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; firstpage:1; lastpage:16; numberofpages:16; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/10447/402215Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744

الإتاحة: https://doi.org/10.1038/s41467-019-10910-wTest
http://hdl.handle.net/10447/402215Test