부산대학교 도서관

Chesshyre, Mary; Ridout, Deborah; Stimpson, Georgia; Servais, Laurent; Baranello, Giovanni; Manzur, Adnan; Scoto, M.; Sarkozy, A.; Munot, P.; Robb, S.; Chan, E.; Robinson, V.; Girshab, W.; Crook, V.; Milev, E.; Abbott, L.; Wolfe, A.; O’Reilly, E.; Watts‐Whent, J.; Burnett, N.; Thomas, R.; Terespolsky, R.; Martinaeu, O.; Longatto, J.; Straub, V.; Bettolo, C.; Guglieri, M.; Diaz‐Manera, J.; Tasca, G.; Elseed, M.; Muni‐Lofra, R.; James, M.; Moat, D.; Sodhi, J.; Wong, K.; Robinson, E.; Groves, E.; Rabb, R.; Parasuraman, D.; Mcmurchie, H.; Chase, H.; Willis, Tracey; Rylance, C.; Birchall, N.; Wright, E.; Childs, A.; Pysden, K.; Martos, C.; Roberts, D.; Pallant, L.; Walker, S.; Henderson, A.; Madhu, R.; Karuvattil, R.; Balla, Y.; Gregson, S.; Clark, S.; Wraige, E.; Jungbluth, H.; Gowda, V.; Vanegas, M.; Sheehan, J.; Schofield, A.; Smith, C.; Hughes, I.; Whitehouse, E.; Warner, S.; Reading, E.; Emery, N.; Moustoukas, J.; Strachan, K.; Ong, M.; Atherton, M.; Mills, N.; Marco, S. Sanchez; Saxena, A.; Skone, K.; Tewaternaude, J.; Davis, H.; Wood, C.; Majumdar, A.; Murugan, A.; Guarino, I.; Tomlinson, R.; Jarvis, H.; Wills, L.; Frimpong, C.; Watson, J.; Cobb, G.; Robertson, G.; Brink, P.; Burslem, J.; Adams, C.; Wong, J.; Joseph, S.; Horrocks, I.; Dunne, J.; Dimarco, M.; Brown, S.; Mckenzie, S.; Torne, K.; Mohamed, R.; Velmurugan, V.; Prasad, M.; Sedehizadeh, S.; Schugal, A.; Keetley, R.; Williamson, S.; Payne, K.; Dowling, E.; Fenty, P.; Goede, C.; Parkes, A.; Baxter, K.; Illingworth, M.; Bhangu, N.; Geary, S.; Palmer, J.; Shill, K.; Tirupathi, S.; Shah, A.; O’Donogue, D.; Mcveigh, J.; Mcfetridge, J.; Nicfhirleinn, G.; Beattie, H.; Leyland, T.; Stevenson, K.; Hussain, N.; Baskaran, D.; Lambat, Z.; Sullivan, R.; Locke, L.; Ambegaonkar, G.; Krishnakumar, D.; Taylor, J.; Moores, J.; Stephen, E.; Tewnion, J.; Ramdas, S.; Sa, M.; Skippen, A.; Khries, M.; Lilien, C.; Ramjattan, H.; Taylor, F.; English, H.; Stewart, K.; Flint, F.; Bartram, E.; Noble, R.; Muntoni, Francesco

Annals of Clinical and Translational Neurology. September 23, 2025, Vol. 12 Issue 9, p1732, 11 p.

Lumsden, DE; Spaull, R; Abernethy, S; El Gamal, M; Forrest, K; Lemaire, LA; Lin, J; Marques, S; Orr, V; Carr, L; De Alwis, Y; Devlin, A; Harrop, E; Kurian, M; Lundy, CT; Mordekar, S; Pysden, K; Smallbone, T; Lodh, R

Muntoni F; Signorovitch J; Sajeev G; Done N; Yao Z; Goemans N; McDonald C; Mercuri E; Niks EH; Wong B; Vandenborne K; Straub V; de Groot IJM; Tian C; Manzur A; Dieye I; Lane H; Ward SJ; Servais L; Deconinck N; Tulinius M; Flanigan K; Henricson E; Dutra de Resende MB; Vita GL; Schara U; Kirschner J; Topaloglu H; Monges S; Cances C; Domingos J; Ricotti V; Selby V; Wolfe A; Abbott L; Milev E; Panagiotopoulou E; Iodice M; Ash M; Voit T; Decostre V; Gilabert S; Hogrel J-Y; Murphy A; Mayhew A; Van der Holst M; Krom YD; van Heur-Neuman MJ; Jansen M; Pelsma M; Bobbert M; Verschuuren JJGM; Robb S; Quinlivan R; Sarkozy A; Munot P; Baranello G; Scoto M; Main M; Patel H; Samsuddin S; Gupta VA; Bushby K; Bertolli C; Muni-Lofra R; James M; Moat D; Sodhi J; Roper H; Parasuraman D; McMurchie H; Rabb R; Pysden K; Pallant L; Peachey G; Madhu R; Shillington A; Jungbluth H; Sheehan J; Spahr R; Bateman E; Cammiss C; Groves L; Emery N; Baxter P; Goulborne N; Senior M; Scott E; Hartley L; Parsons B; Mason F; Jenkins L; Toms B; Frimpong-Ansah C; Jarvis H; Dalgleish J; Keddie A; Di Marco M; Dunne J; Miah A; Selley A; Geary M; Palmer J; Greenfield K; MacAuley S; Robbins H; Iqbal M; Ward C; Taylor J; O'Hara A; Tewnion J; Chandratre S; Ramdas S; White M; Ramjattan H; Yirrel J; Arora H; Willcocks RJ; Lott DJ; Senesac CR; Triplett WT; Byrne BJ; Walte GA; Sweeney HL; Harrington AT; Tennekoon GI; Zilke KL; Finanger EL; Russman BS; Daniels MJ; Xu D; Finkel RS; Bettica P; Billeter M; Van den Hauwe M; Rybalsky I; Shellenbarger KC; McCormick AE; McGuire MN; Bonarrigo K; Fowler AE; Kiefer M; Bange J; Hu S; Chik F; Chen J; Shen P

PLoS One
PLoS ONE, Vol 19, Iss 7 (2024)
PLoS ONE, Vol 19, Iss 7, p e0304984 (2024)
PLoS One, 19, 7
PLoS ONE, vol 19, iss 7

Henderson, A.; Harley, G.; Horrocks, I.; Joseph, S.; Dunne, J.; Pysden, K.; Mushtaq, T.; Wong, S.C.; Childs, A.M.

J Neuromuscul Dis

Rice, L; Stockdale, C; Berry, I; O'Riordan, S; Pysden, K; Anwar, R; Rushambuza, R; Blyth, M; Srikanth, S; Gwack, Y; El-Sherbiny, YM; Carter, C; Savic, S

Journal of Clinical Immunology. 39:249-256

Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Stringer BW; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Ganieva M; Avicenna Tajik State Medical University, Department of Neurology and Medical Genetics, Dushanbe, Tajikistan.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Macaya A; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Department of Paediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Laner A; MGZ - Medical Genetics Centre, Munich, Germany.; Onbool E; Neurology department, King Abdulaziz Specialist Hospital, Skaka Aljouf, Saudi Arabia.; Al-Shammari R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Al-Owain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Deconinck N; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.; Vilain C; Department of Genetics, Hôpital Universitaire Reine Fabiola (HUDERF); Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.; Dontaine P; Centre de Référence des Maladies Neuromusculaires et Service de Neurologie Pédiatrique, Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles (ULB), Brussels, Belgium.; Self E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Akram R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.; Hussain G; Neurochemical biology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences, Government College University, Faisalabad, Pakistan.; Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.; Iqbal J; Department of Neurology, Allied Hospital, Faisalabad Medical University, Faisalabad, Pakistan.; Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Kasiri M; School of Medicine, Shahrekord University of Medical Sciences, Shahrekord, Iran.; Yesil G; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.; Uygur T; Department of Pediatric Neurology, Bezmialem Vakif University, İstanbul, Turkey.; Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, United Kingdom.; Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds, United Kingdom.; Alves CA; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Giacomotto J; Griffith Institute for Drug Discovery, Centre for Cellular Phenomics, School of Environment and Science Griffith University, Brisbane, Queensland, Australia.; Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Muntoni, F.; Manzur, A.Y.; Manzur, A.; Signorovitch, J.; Done, N.; Sajeev, G.; Li, J.; Akbarnejad, H.; Sharma, A.; Ward, S.J.; Goemans, N.; Niks, E.H.; Servais, L.; Mercuri, E.; Guglieri, M.; Straub, V.; de Groot, I.; Ridout, D.; McDonald, C.; Servais, L.; Deconinck, N.; Tulinius, M.; Flanigan, K.; Henricson, E.; de Resende, M.B.D.; Vita, G.L.; Topaloglu, H.; Monges, S.; Cances, C.; Domingos, J.; Ricotti, V.; Selby, V.; Wolfe, A.; Abbott, L.; Milev, E.; Panagiotopoulou, E.; Iodice, M.; Ash, M.; Robb, S.; Quinlivan, R.; Sarkozy, A.; Munot, P.; Baranello, G.; Scoto, M.; Main, M.; Patel, H.; Samsuddin, S.; Gupta, V.A.; Voit, T.; Decostre, V.; Gilabert, S.; Hogrel, J.-Y.; Murphy, A.; Mayhew, A.; Van der Holst, M.; Krom, Y.D.; van Heur-Neuman, M.J.; Verschuuren, J.J.G.M.; de Groot, I.J.; Jansen, M.; Pelsma, M.; Bobbert, M.; Van den Hauwe, M.; Schara, U.; Kirschner, J.; Bushby, K.; Bertolli, C.; Muni-Lofra, R.; James, M.; Moat, D.; Sodhi, J.; Roper, H.; Parasuraman, D.; McMurchie, H.; Rabb, R.; Pysden, K.; Pallant, L.; Peachey, G.; Madhu, R.; Shillington, A.; Jungbluth, H.; Sheehan, J.; Spahr, R.; Bateman, E.; Cammiss, C.; Groves, L.; Emery, N.; Baxter, P.; Goulborne, N.; Senior, M.; Scott, E.; Hartley, L.; Parsons, B.; Mason, F.; Jenkins, L.; Toms, B.; Frimpong-Ansah, C.; Jarvis, H.; Dalgleish, J.; Keddie, A.; Di Marco, M.; Dunne, J.; Miah, A.; Selley, A.; Geary, M.; Palmer, J.; Greenfield, K.; MacAuley, S.; Robbins, H.; Iqbal, M.; Ward, C.; Taylor, J.; O'Hara, A.; Tewnion, J.; Chandratre, S.; Ramdas, S.; White, M.; Ramjattan, H.; Yirrel, J.

In: PLOS ONE. (PLOS ONE, June 2025, 20(6 June))

Brunklaus A; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Brünger T; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Feng T; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Fons C; Pediatric Neurology Department, CIBERER-ISCIII, Sant Joan de Déu Universitary Hospital, Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona, Spain.; Lehikoinen A; Pediatric Neurology Department, Kuopio University Hospital, Member of the ERN EpiCARE, Kuopio, Finland.; Panagiotakaki E; Department of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL) and Inserm U1028/CNRS UMR5292, Lyon, France.; Vintan MA; 'Iuliu Hatieganu' University of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurology and Pediatric Neurology, Victor Babes, 43, 400012 Cluj-Napoca, Romania.; Symonds J; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Andrew J; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Arzimanoglou A; Pediatric Neurology Department, CIBERER-ISCIII, Sant Joan de Déu Universitary Hospital, Institut de Recerca Sant Joan de Déu, Member of the ERN EpiCARE, Barcelona, Spain.; Department of Paediatric Clinical Epileptology, sleep disorders and functional neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL) and Inserm U1028/CNRS UMR5292, Lyon, France.; Delima S; Indiana University School of Medicine, IU Health Riley Hospital for Children, Department of Neurology, Division of Pediatric Neurology, Indianapolis, IN, USA.; Gallois J; Louisiana State University Health Sciences Center School of Medicine, New Orleans, LA, USA.; Hanrahan D; Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, UK.; Lesca G; Department of Medical Genetics, Lyon University Hospital, Member of the ERN EpiCARE, Université Claude Bernard Lyon 1, Lyon, France.; MacLeod S; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Marjanovic D; The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark.; McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, Member of the ERN EpiCARE, London, UK.; Nuñez-Enamorado N; Pediatric Neurology Department, 12 Octubre Universitary Hospital, Madrid, Spain.; Perez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile.; Scott Perry M; Jane and John Justin Neurosciences Center, Cook Children's Medical Center, Ft Worth, TX, USA.; Pysden K; Paediatric Neurology Department, Leeds Teaching Hospitals, Leeds General Infirmary, Leeds, UK.; Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.; Sully K; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Vaher U; Children's Clinic of Tartu University Hospital, Faculty of Medicine of Tartu University, Member of the ERN EpiCARE, Tartu, Estonia.; Velayutham M; Birmingham Children's Hospital, Birmingham, UK.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.; Weiss S; Division of Neurology, SickKids, University of Toronto, Toronto, Canada.; Wirrell E; Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Zuberi SM; Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Member of the ERN EpiCARE, Glasgow, UK.; Lal D; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Møller RS; The Danish Epilepsy Centre, Member of the ERN EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Mantegazza M; Université Côte d'Azur, 06560 Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France.; Inserm, 06560 Valbonne-Sophia Antipolis, France.; Cestèle S; Université Côte d'Azur, 06560 Valbonne-Sophia Antipolis, France.; CNRS UMR7275, Institute of Molecular and Cellular Pharmacology (IPMC), 06560 Valbonne-Sophia Antipolis, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Specht, S.; Scoto, M.; Childs, A.; Eglon, G.; Hastings, L.; Pysden, K.; Manning, S.; Jimenez, C.; Munot, P.; Brusa, C.; Turner, M.; Guglieri, M.; Manzur, A.; Muntoni, F.; Straub, V.; Marini-Bettolo, C.

Neuromuscular Disorders. 29:S128-S128

Chesshyre, M.; Stimpson, G.; Ricotti, V.; Baranello, G.; Manzur, A.; Muntoni, F.; Ridout, D.; De Lucia, S.; Niks, E.H.; Straub, V.; Servais, L.; Hogrel, J.-Y.; Domingos, J.; Selby, V.; Wolfe, A.; Abbott, L.; Panagiotopoulou, E.; Iodice, M.; Ash, M.; de Groot, I.; Jansen, M.; Pelsma, M.; Bobbert, M.; Van Der Holst, M.; Krom, Y.D.; van Heur-Neuman, M.J.; Voit, T.; Decostre, V.; Gilabert, S.; Guglieri, M.; Murphy, A.; Mayhew, A.; Scoto, M.; Sarkozy, A.; Munot, P.; Robb, S.; Chan, E.; Robinson, V.; Girshab, W.; Crook, V.; Milev, E.; Abbott, L.; Wolfe, A.; O’Reilly, E.; Watts-When, J.; Burnett, N.; Thomas, R.; Terespolsky, R.; Martinaeu, O.; Longatto, J.; Bettolo, C.; Guglieri, M.; Diaz-Manera, J.; Tasca, G.; Elseed, M.; Muni-Lofra, R.; James, M.; Moat, D.; Sodhi, J.; Wong, K.; Robinson, E.; Groves, E.; Rabb, R.; McMurchie, H.; Chase, H.; Willis, T.; Rylance, C.; Birchall, N.; Wright, E.; Childs, A.; Pysden, K.; Martos, C.; Roberts, D.; Pallant, L.; Walker, S.; Henderson, A.; Madhu, R.; Karuvattil, R.; Balla, Y.; Gregson, S.; Clark, S.; Wraige, E.; Jungbluth, H.; Gowda, V.; Vanegas, M.; Sheehan, J.; Schofield, A.; Smith, C.; Hughes, I.; Whitehouse, E.; Warner, S.; Reading, E.; Emery, N.; Moustoukas, J.; Strachan, K.; Ong, M.; Atherton, M.; Mills, N.; Marco, S.S.; Saxena, A.; Skone, K.; TeWaterNaude, J.; Davis, H.; Wood, C.; Majumdar, A.; Murugan, A.; Guarino, I.; Tomlinson, R.; Jarvis, H.; Wills, L.; Frimpong, C.; Watson, J.; Cobb, G.; Robertson, G.; Brink, P.; Burslem, J.; Adams, C.; Wong, J.; Joseph, S.; Horrocks, I.; Dunne, J.; DiMarco, M.; Brown, S.; McKenzie, S.; Torne, K.; Mohamed, R.; Velmurugan, V.; Prasad, M.; Sedehizadeh, S.; Schugal, A.; Keetley, R.; Williamson, S.; Payne, K.; Dowling, E.; Fenty, P.; de Goede, C.; Parkes, A.; Baxter, K.; Illingworth, M.; Bhangu, N.; Geary, S.; Palmer, J.; Shill, K.; Tirupathi, S.; Shah, A.; O’Donogue, D.; McVeigh, J.; McFetridge, J.; Nicfhirleinn, G.; Beattie, H.; Leyland, T.; Stevenson, K.; Hussain, N.; Baskaran, D.; Lambat, Z.; Sullivan, R.; Locke, L.; Ambegaonkar, G.; Krishnakumar, D.; Taylor, J.; Moores, J.; Stephen, E.; Tewnion, J.; Ramdas, S.; Sa, M.; Skippen, A.; Khries, M.; Lilien, C.; Ramjattan, H.; Taylor, F.; English, H.; Stewart, K.; Flint, F.; Bartram, E.; Noble, R.

In: Developmental Medicine and Child Neurology. (Developmental Medicine and Child Neurology, 2025)

Childs, A. M.; Hutchin, T.; Pysden, K.; Highet, L.; Bamford, J.; Livingston, J.; Crow, Y. J.

Childs, A M, Hutchin, T, Pysden, K, Highet, L, Bamford, J, Livingston, J & Crow, Y J 2007, 'Variable phenotype including Leigh syndrome with a 9185T >C mutation in the MTATP6 gene', Neuropediatrics, vol. 38, no. 6, pp. 313-316. https://doi.org/10.1055/s-2008-1065355

Ricotti, Valeria; Ridout, Deborah A; Pane, Marika; Main, Marion; Mayhew, Anna; Mercuri, Eugenio; Manzur, Adnan Y; Muntoni, Francesco; Robb, S; Quinlivan, R; Sarkozy, A; Butler, J; Bushby, K; Straub, V; Guglieri, M; Eagle, M; Roper, H; McMurchie, H; Childs, A; Pysden, K; Pallant, L; Spinty, S; Peachey, G; Shillington, A; Wraige, E; Jungbluth, H; Sheehan, J; Spahr, R; Hughes, I; Bateman, E; Cammiss, C; Willis, T; Groves, L; Emery, N; Baxter, P; Senior, M; Scott, E; Hartley, L; Parsons, B; Majumdar, A; Jenkins, L; Toms, B; Naismith, K; Keddie, A; Horrocks, I; Di Marco, M; Chow, G; Miah, A; de Goede, C; Thomas, N; Geary, M; Palmer, J; White, C; Greenfield, K; Wilson, I; Messina, S.; Berardinelli, A.; Comi, G.; DʼAmico, A.; Bertini, E.; Bruno, C.; Politano, L.; Battini, R.; Pegoraro, E.; Pini Child, A.; Mongini, T.; Morandi, L.

Journal of Neurology, Neurosurgery & Psychiatry. Feb 01, 2016 87(2):149-155

Green, L.M.C.; Berry, I.; Warren, D.; Kaliakatsos, M.; Pysden, K.; Livingston, J.H.

European Journal of Paediatric Neurology. 21:e50-e50

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