المؤلفون: Parmar, Jevin M, Laing, Nigel G, Kennerson, Marina L, Ravenscroft, Gianina

المساهمون: Australian Government Research Training Program, National Health and Medical Research Council, Australian Medical Research Future Fund

المصدر: Journal of Neurology, Neurosurgery & Psychiatry ; page jnnp-2024-333436 ; ISSN 0022-3050 1468-330X

الإتاحة: https://doi.org/10.1136/jnnp-2024-333436Test

المؤلفون: Lehtokari, Vilma Lotta, Sagath, Lydia, Davis, Mark, Ho, Desiree, Kiiski, Kirsi, Kettunen, Kaisa, Demczko, Matthew, Stein, Riki, Vatta, Matteo, Winder, Thomas L., Shohet, Adi, Orenstein, Naama, Krcho, Peter, Bohuš, Peter, Huovinen, Sanna, Udd, Bjarne, Pelin, Katarina, Laing, Nigel G., Wallgren-Pettersson, Carina

المساهمون: Tampere University, Department of Pathology

مصطلحات موضوعية: 3111 Biomedicine

وصف الملف: fulltext

العلاقة: 34; https://trepo.tuni.fi/handle/10024/155275Test; URN:NBN:fi:tuni-202402272577

الإتاحة: https://doi.org/10.1016/j.nmd.2023.11.009Test
https://trepo.tuni.fi/handle/10024/155275Test

المؤلفون: Lehtokari, Vilma-Lotta, Sagath, Lydia, Davis, Mark, Ho, Desiree, Kiiski, Kirsi, Kettunen, Kaisa, Demczko, Matthew, Stein, Riki, Vatta, Matteo, Winder, Thomas L., Shohet, Adi, Orenstein, Naama, Krcho, Peter, Bohuš, Peter, Huovinen, Sanna, Udd, Bjarne, Pelin, Katarina, Laing, Nigel G., Wallgren-Pettersson, Carina

المساهمون: Faculty Common Matters (Faculty of Medicine), Department of Medical and Clinical Genetics, Molecular and Integrative Biosciences Research Programme, HUSLAB, HUS Diagnostic Center, Katarina Pelin / Principal Investigator, Medicum

مصطلحات موضوعية: ACTA1, Congenital myopathy, Genetic mosaicism, Nemaline myopathy, Skeletal muscle alpha-actin, Biomedicine

وصف الملف: application/pdf

العلاقة: This study was supported by grants from the Sigrid Jusélius Foundation, the Academy of Finland, Muscular Dystrophy UK, the Finska Läkaresällskapet, the Medicinska understödsföreningen Liv och Hälsa, the Jane and Aatos Erkko Foundation, the Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns minne, and the Helsinki University Hospital Special Funding for University Level Health Research.; Lehtokari , V-L , Sagath , L , Davis , M , Ho , D , Kiiski , K , Kettunen , K , Demczko , M , Stein , R , Vatta , M , Winder , T L , Shohet , A , Orenstein , N , Krcho , P , Bohuš , P , Huovinen , S , Udd , B , Pelin , K , Laing , N G & Wallgren-Pettersson , C 2024 , ' A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy ' , Neuromuscular Disorders , vol. 34 , pp. 32-40 . https://doi.org/10.1016/j.nmd.2023.11.009Test; ORCID: /0000-0002-6754-3830/work/152341668; ORCID: /0000-0002-7040-7266/work/152343347; ORCID: /0000-0001-7402-461X/work/152346262; ORCID: /0000-0002-8276-0972/work/152353802; http://hdl.handle.net/10138/570649Test; ec772cd4-204a-4d8d-be39-d36b3b39f6b8; 85180564979; 001146670000001

الإتاحة: http://hdl.handle.net/10138/570649Test

المؤلفون: Clayton, Joshua S., Vo, Christina, Crane, Jordan, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L.

المساهمون: National Health and Medical Research Council, Raine Medical Research Foundation, Stan Perron Charitable Foundation

المصدر: Stem Cell Research ; volume 77, page 103411 ; ISSN 1873-5061

الإتاحة: https://doi.org/10.1016/j.scr.2024.103411Test
https://api.elsevier.com/content/article/PII:S1873506124001090?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506124001090?httpAccept=text/plainTest

المؤلفون: Clayton, Joshua S., Vo, Christina, Crane, Jordan, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L.

المساهمون: National Health and Medical Research Council, Raine Medical Research Foundation, Stan Perron Charitable Foundation

المصدر: Stem Cell Research ; volume 77, page 103410 ; ISSN 1873-5061

الإتاحة: https://doi.org/10.1016/j.scr.2024.103410Test
https://api.elsevier.com/content/article/PII:S1873506124001089?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506124001089?httpAccept=text/plainTest

المؤلفون: Cabrera-Serrano, Macarena, Caccavelli, Laure, Savarese, Marco, Vihola, Anna, Jokela, Manu, Johari, Mridul, Capiod, Thierry, Madrange, Marine, Bugiardini, Enrico, Brady, Stefen, Quinlivan, Rosaline, Merve, Ashirwad, Scalco, Renata, Hilton-Jones, David, Houlden, Henry, Aydin, Halil Ibrahim, Ceylaner, Serdar, Drewes, Sarah, Vockley, Jerry, Taylor, Rhonda L., Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R. R., Davis, Mark R., Bratkovic, Drago, Manton, Nicholas, Robertson, Thomas, O'Gorman, Cullen, McCombe, Pamela, Laing, Nigel G., Phillips, Liza, de Lonlay, Pascale, Ravenscroft, Gianina

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin, SARCOPLASMIC-RETICULUM, MUSCULAR-DYSTROPHY, MUSCLE, GENE, LINE, MUTATIONS, ISOFORM, 3112 Neurosciences, 3124 Neurology and psychiatry

وصف الملف: application/pdf

العلاقة: This work is supported by Australian National Health and Medical Research Council (NHMRC) grants (APP1080587, APP1146321 and APP2002640) to G.R., A.R.R.F. and N.G.L. G.R. is supported by an NHMRC Career Development Fellowship (APP1122952) and N.G.L. and A.R.R.F. are supported by NHMRC Senior Research Fellowships (APP1117510, APP1154524). This work was also supported by the Academy of Finland Neurogenomics pHealth funding. This work was supported by grants to PdL from Fondation maladies rares, Agence Nationale de la Recherche (ANR -AAPG 2018 CE17 MetabInf), the Association Francaise contre les Myopathies (AFM 2016-2018 19773), and patient associations (Nos Anges, AMMI, OPPH, TANGO2 family associations, Hyperinsulinisme).; Cabrera-Serrano , M , Caccavelli , L , Savarese , M , Vihola , A , Jokela , M , Johari , M , Capiod , T , Madrange , M , Bugiardini , E , Brady , S , Quinlivan , R , Merve , A , Scalco , R , Hilton-Jones , D , Houlden , H , Aydin , H I , Ceylaner , S , Drewes , S , Vockley , J , Taylor , R L , Folland , C , Kelly , A , Goullee , H , Ylikallio , E , Auranen , M , Tyynismaa , H , Udd , B , Forrest , A R R , Davis , M R , Bratkovic , D , Manton , N , Robertson , T , O'Gorman , C , McCombe , P , Laing , N G , Phillips , L , de Lonlay , P & Ravenscroft , G 2022 , ' Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis ' , Brain : a journal of neurology , vol. 145 , no. 11 , pp. 3985–3998 . https://doi.org/10.1093/brain/awab484Test; ORCID: /0000-0002-2493-2422/work/127503131; ORCID: /0000-0001-5178-0703/work/127504786; ORCID: /0000-0002-2591-244X/work/127509077; ORCID: /0000-0002-3549-558X/work/127509789; 90354baf-2a07-4e1a-9ef5-adfb87049c0e; http://hdl.handle.net/10138/353498Test; 000839569500001

الإتاحة: http://hdl.handle.net/10138/353498Test

المؤلفون: Pellerin, David, Danzi, Matt C, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K, Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A, Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J, Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H, Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M, Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G, Lamont, Phillipa J, Saporta, Mario A, Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

المصدر: New England Journal of Medicine , 388 pp. 128-141. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162059Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162059Test/

المؤلفون: Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bonnemann, Carsten G., MacArthur, Daniel G., GTEx Consortium, Han, Buhm

المساهمون: Han, Buhm

مصطلحات موضوعية: ENHANCERS ESES, RNA-SEQ, MUTATIONS, VARIANTS, GUIDELINES, TOOL

العلاقة: Science Translational Medicine, Vol.9 No.386, p. eaal5209; https://hdl.handle.net/10371/191533Test; 000399454600005; 2-s2.0-85018570855; 181323

الإتاحة: https://doi.org/10.1126/scitranslmed.aal5209Test
https://hdl.handle.net/10371/191533Test

المؤلفون: Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W

مصطلحات موضوعية: Clinical sciences, Neurosciences, Biological psychology, ataxia, CANVAS, RFC1, sensory neuropathy, STR

العلاقة: Brain Communications; Scriba, CK; Stevanovski, I; Chintalaphani, SR; Gamaarachchi, H; Ghaoui, R; Ghia, D; Henderson, RD; Jordan, N; Winkel, A; Lamont, PJ; Rodrigues, MJ; Roxburgh, RH; Weisburd, B; Laing, NG; Deveson, IW; Davis, MR; Ravenscroft, G, RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics, Brain Communications, 2023, 5 (4), pp. fcad208; http://hdl.handle.net/10072/425696Test

الإتاحة: https://doi.org/10.1093/braincomms/fcad208Test
http://hdl.handle.net/10072/425696Test

المؤلفون: Driver, Karrison, Vo, Christina, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L., Clayton, Joshua S.

المساهمون: Stan Perron Charitable Foundation, National Health and Medical Research Council, Raine Medical Research Foundation

المصدر: Stem Cell Research ; volume 73, page 103258 ; ISSN 1873-5061

الإتاحة: https://doi.org/10.1016/j.scr.2023.103258Test
https://api.elsevier.com/content/article/PII:S1873506123002441?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1873506123002441?httpAccept=text/plainTest