부산대학교 도서관

Lim KS; Department of Biomedical Science, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Department of Medicine, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Periñan MT; Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Sevilla, Seville, Spain.; Centre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London, London, United Kingdom.; Chew EGY; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.; Lee PS; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Akçimen F; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.; Lim JL; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.; Koretsky MJ; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Funayama M; Department of Neurology, Faculty of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.; International Collaborative Research Administration, Juntendo University, Tokyo, Japan.; Yoshino H; Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.; Hattori N; Department of Neurology, Faculty of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; South Kazakhstan Medical Academy, Department of Neurology, 1/1 Al-Farabi Avenue, 160019, Shymkent, Kazakhstan.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Isayan M; Department of Neurology and Neurosurgery, National Institute of Health, Yerevan, Armenia.; Tay YW; Department of Biomedical Science, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Department of Medicine, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Toh TS; Department of Medicine, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.; Lit LC; Department of Physiology, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Khairul Anuar AN; Department of Physiology, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Ding HX; Department of Physiology, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; Screven L; The Global Parkinson's Genetics Program (GP2), Bethesda, USA.; Ibrahim NM; Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Selangor, Malaysia.; Lin CH; Department of Neurology, National Taiwan University Hospital Taipei, Taipei, Taiwan.; Kim HJ; Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, Seoul, Republic of Korea.; Lee JY; Department of Neurology, Seoul Metropolitan Government - Seoul National University Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea.; Chung SJ; Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.; Foo JN; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore.; Tan EK; Duke-National University of Singapore Medical School, Singapore, Singapore; Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore, Singapore.; Lim SY; Department of Medicine, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.; Tan AH; Department of Medicine, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia. aihuey.tan@um.edu.my.; The Mah Pooi Soo & Tan Chin Nam Centre for Parkinson's & Related Disorders, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia. aihuey.tan@um.edu.my.; Bandres-Ciga S; Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA. sara.bandresciga@nih.gov.; Ahmad-Annuar A; Department of Biomedical Science, Faculty of Medicine, Universiti Malaya, 50603, Kuala Lumpur, Malaysia. azlina_aa@um.edu.my.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Rauan Kaiyrzhanov; Juan Darío Ortigoza‐Escobar; Brett W. Stringer; Manizha Ganieva; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Alfons Macaya; Andreas Laner; Enas Onbool; Randa Al‐Shammari; Mohammed Al‐Owain; Nicolas Deconinck; Catheline Vilain; Pauline Dontaine; Eleanor Self; Rabia Akram; Ghulam Hussain; Shahid Mahmood Baig; Javed Iqbal; Vincenzo Salpietro; Maedeh Neshatdoust; Mahboubeh Kasiri; Gozde Yesil; Turkan Uygur; Karen Pysden; Ian R. Berry; Cesar Augusto Alves; Jean Giacomotto; Henry Houlden; Reza Maroofian

Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)
Annals of Clinical and Translational Neurology, 9, 7, pp. 1080-1089

Alistair T Pagnamenta; Rauan Kaiyrzhanov; Yaqun Zou; Sahar I Da'as; Reza Maroofian; Sandra Donkervoort; Natalia Dominik; Marlen Lauffer; Matteo P Ferla; Andrea Orioli; Adam Giess; Arianna Tucci; Christian Beetz; Maryam Sedghi; Behnaz Ansari; Rita Barresi; Keivan Basiri; Andrea Cortese; Greg Elgar; Miguel A Fernandez-Garcia; Janice Yip; A Reghan Foley; Nicholas Gutowski; Heinz Jungbluth; Saskia Lassche; Tim Lavin; Carlo Marcelis; Peter Marks; Chiara Marini-Bettolo; Livija Medne; Ali-Reza Moslemi; Anna Sarkozy; Mary M Reilly; Francesco Muntoni; Francisca Millan; Colleen C Muraresku; Anna C Need; Andrea H Nemeth; Sarah B Neuhaus; Fiona Norwood; Marie O'Donnell; Mary O’Driscoll; Julia Rankin; Sabrina W Yum; Zarazuela Zolkipli-Cunningham; Isabell Brusius; Gilbert Wunderlich; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; Helen Brittain; Mark J Caulfield; Georgia C Chan; Clare E H Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim J P Hubbard; Kristina ibáñez; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Athanasios Kousathanas; Lea Lahnstein; Kay Lawson; Sarah E A Leigh; Ivonne U S Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Peter O’Donovan; Chris A Odhams; Christine Patch; Mariana Buongermino Pereira; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Mina Ryten; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Samuel C Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Mélanie Tanguy; Ellen R A Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Mert Karakaya; Brunhilde Wirth; Khalid A Fakhro; Homa Tajsharghi; Carsten G Bönnemann; Jenny C Taylor; Henry Houlden

Brain
Brain, 144, 2, pp. 584-600

Kaiyrzhanov, R; Zaki, MS; Maroofian, R; Dominik, N; Rad, A; Vona, B; Houlden, H

Mov Disord Clin Pract

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru ; Mitani, Tadahiro ; Pagnamenta, Alistair T. ; Marafi, Dana ; Zaki, Maha S. ; O’Brien, Thomas J. ; Karimiani, Ehsan Ghayoor ; Kaiyrzhanov, Rauan ; Takizawa, Marina ; Ohori, Sachiko ; Leong, Huey Yin ; Akay, Gulsen ; Galehdari, Hamid ; Zamani, Mina ; Romy, Ratna ; Carroll, Christopher J. ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Malek, Hadis ; Ahangari, Najmeh ; Tomoum, Hoda ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Murphy, David ; Dominik, Natalia ; Elbendary, Hasnaa M. ; Rafat, Karima ; Yilmaz, Sanem ; Kanmaz, Seda ; Serin, Mine ; Krishnakumar, Deepa ; Gardham, Alice ; Maw, Anna ; Rao, Tekki Sreenivasa ; Alsubhi, Sarah ; Srour, Myriam ; Buhas, Daniela ; Jewett, Tamison ; Goldberg, Rachel E. ; Shamseldin, Hanan ; Frengen, Eirik ; Misceo, Doriana ; Strømme, Petter ; Magliocco Ceroni, José Ricardo ; Kim, Chong Ae ; Yesil, Gozde ; Sengenc, Esma ; Guler, Serhat ; Hull, Mariam ; Parnes, Mered ; Aktas, Dilek ; Anlar, Banu ; Bayram, Yavuz ; Pehlivan, Davut ; Posey, Jennifer E. ; Alavi, Shahryar ; Madani Manshadi, Seyed Ali ; Alzaidan, Hamad ; Al-Owain, Mohammad ; Alabdi, Lama ; Abdulwahab, Ferdous ; Sekiguchi, Futoshi ; Hamanaka, Kohei ; Fujita, Atsushi ; Uchiyama, Yuri ; Mizuguchi, Takeshi ; Miyatake, Satoko ; Miyake, Noriko ; Elshafie, Reem M. ; Salayev, Kamran ; Guliyeva, Ulviyya ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Monaghan, Kristin G. ; Langley, Katherine G. ; Yang, Hui ; Motavaf, Mahsa ; Safari, Saeid ; Alipour, Mozhgan ; Ogata, Kazuhiro ; Brown, André E.X. ; Lupski, James R. ; Houlden, Henry ; Matsumoto, Naomichi

In Genetics in Medicine January 2023 25(1):90-102

Sullivan, R; Kaiyrzhanov, R; Houlden, H

Current Opinion in Neurology. 34:556-564

Poole O. V.; Pizzamiglio C.; Murphy D.; Falabella M.; Macken W. L.; Bugiardini E.; Woodward C. E.; Labrum R.; Efthymiou S.; Vincenzo Salpietro; Chelban V.; Kaiyrzhanov R.; Maroofian R.; Amato A. A.; Gregory A.; Hayflick S. J.; Jonvik H.; Wood N.; Houlden H.; Vandrovcova J.; Hanna M. G.; Pittman A.; Pitceathly R. D. S.; Alkhawaja I.; Banu S.; Bonsignore M.; Breza M.; Di Rosa G.; Heidari M.; Koutsis G.; van den Maagdenberg A. M. J. M.; Macaya A.; Munchau A.; Scuderi C.; Zharkinbekova N.

Ann Neurol

Chelban V.; Wilson M. P.; Warman Chardon J.; Vandrovcova J.; Zanetti M. N.; Zamba-Papanicolaou E.; Efthymiou S.; Pope S.; Conte M. R.; Abis G.; Liu Y. -T.; Tribollet E.; Haridy N. A.; Botia J. A.; Ryten M.; Nicolaou P.; Minaidou A.; Christodoulou K.; Kernohan K. D.; Eaton A.; Osmond M.; Ito Y.; Bourque P.; Jepson J. E. C.; Bello O.; Bremner F.; Cordivari C.; Reilly M. M.; Foiani M.; Heslegrave A.; Zetterberg H.; Heales S. J. R.; Wood N. W.; Rothman J. E.; Boycott K. M.; Mills P. B.; Clayton P. T.; Houlden H.; Kriouile Y.; Khorassani M. E.; Aguennouz M.; Groppa S.; Marinova Karashova B.; Van Maldergem L.; Nachbauer W.; Boesch S.; Arning L.; Timmann D.; Cormand B.; Perez-Duenas B.; Di Rosa G.; Goraya J. S.; Sultan T.; Mine J.; Avdjieva D.; Kathom H.; Tincheva R.; Banu S.; Pineda-Marfa M.; Veggiotti P.; Ferrari M. D.; van den Maagdenberg A. M. J. M.; Verrotti A.; Marseglia G.; Savasta S.; Garcia-Silva M.; Ruiz A. M.; Garavaglia B.; Borgione E.; Portaro S.; Sanchez B. M.; Boles R.; Papacostas S.; Vikelis M.; Rothman J.; Giunti P.; Salpietro V.; Oconnor E.; Kullmann D.; Kaiyrzhanov R.; Sullivan R.; Khan A. M.; Yau W. Y.; Hostettler I.; Papanicolaou E. Z.; Dardiotis E.; Maqbool S.; Ibrahim S.; Kirmani S.; Rana N. N.; Atawneh O.; Lim S. -Y.; Shaikh F.; Koutsis G.; Breza M.; Mangano S.; Scuderi C.; Morello G.; Stojkovic T.; Torti E.; Zollo M.; Heimer G.; Dauvilliers Y. A.; Striano P.; Al-Khawaja I.; Al-Mutairi F.; Alkuraya F. S.; Sherifa H.; Rizig M.; Okubadejo N. U.; Ojo O. O.; Oshinaike O. O.; Wahab K.; Bello A. H.; Abubakar S.; Obiabo Y.; Nwazor E.; Ekenze O.; Williams U.; Iyagba A.; Taiwo L.; Komolafe M.; Oguntunde O.; Pchelina S.; Senkevich K.; Haridy N.; Shashkin C.; Zharkynbekova N.; Koneyev K.; Manizha G.; Isrofilov M.; Guliyeva U.; Salayev K.; Khachatryan S.; Rossi S.; Silvestri G.; Bourinaris T.; Xiromerisiou G.; Fidani L.; Spanaki C.; Tucci A.

Ann Neurol
Chelban, V, Wilson, M P, Warman Chardon, J, Vandrovcova, J, Zanetti, M N, Zamba-papanicolaou, E, Efthymiou, S, Pope, S, Conte, M R, Abis, G, Liu, Y, Tribollet, E, Haridy, N A, Botía, J A, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, K D, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, J E C, Bello, O, Bremner, F, Cordivari, C, Reilly, M M, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, S J R, Wood, N W, Rothman, J E, Boycott, K M, Mills, P B, Clayton, P T & Houlden, H 2019, ' PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation ', Annals of Neurology, vol. 86, no. 2, pp. 225-240 . https://doi.org/10.1002/ana.25524
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
Annals of Neurology

Richard E. M.; Bakhtiari S.; Marsh A. P. L.; Kaiyrzhanov R.; Wagner M.; Shetty S.; Pagnozzi A.; Nordlie S. M.; Guida B. S.; Cornejo P.; Magee H.; Liu J.; Norton B. Y.; Webster R. I.; Worgan L.; Hakonarson H.; Li J.; Guo Y.; Jain M.; Blesson A.; Rodan L. H.; Abbott M. -A.; Comi A.; Cohen J. S.; Alhaddad B.; Meitinger T.; Lenz D.; Ziegler A.; Kotzaeridou U.; Brunet T.; Chassevent A.; Smith-Hicks C.; Ekstein J.; Weiden T.; Hahn A.; Zharkinbekova N.; Turnpenny P.; Tucci A.; Yelton M.; Horvath R.; Gungor S.; Hiz S.; Oktay Y.; Lochmuller H.; Zollino M.; Morleo M.; Marangi G.; Nigro V.; Torella A.; Pinelli M.; Amenta S.; Husain R. A.; Grossmann B.; Rapp M.; Steen C.; Marquardt I.; Grimmel M.; Grasshoff U.; Korenke G. C.; Owczarek-Lipska M.; Neidhardt J.; Radio F. C.; Mancini C.; Claps Sepulveda D. J.; McWalter K.; Begtrup A.; Crunk A.; Guillen Sacoto M. J.; Person R.; Schnur R. E.; Mancardi M. M.; Kreuder F.; Striano P.; Zara F.; Chung W. K.; Marks W. A.; van Eyk C. L.; Webber D. L.; Corbett M. A.; Harper K.; Berry J. G.; MacLennan A. H.; Gecz J.; Tartaglia M.; Salpietro V.; Christodoulou J.; Kaslin J.; Padilla-Lopez S.; Bilguvar K.; Munchau A.; Ahmed Z. M.; Hufnagel R. B.; Fahey M. C.; Maroofian R.; Houlden H.; Sticht H.; Mane S. M.; Rad A.; Vona B.; Jin S. C.; Haack T. B.; Makowski C.; Hirsch Y.; Riazuddin S.; Kruer M. C.

Am. J. Hum. Genet. 108, 2006-2016 (2021)

Rocca C; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Clarkson C; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Zanovello M; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Gagliardi D; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.; Genomics QS; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Alvi J; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore 54000, Punjab, Pakistan.; Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Sultan T; Department of Paediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore 54000, Punjab, Pakistan.; Vandrovcova J; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Polke J; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1E 6BT, UK.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

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Brain

Aynekin B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK; Department of Molecular Biology and Genetics, Biruni University, 34015, Istanbul, Türkiye.; Lau T; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Papazoglou I; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye.; Gulec A; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gumus UGO; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Gorokhova S; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.; Tiffany B; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.; Medeiros LS; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil.; Schwartz IVD; Medical Genetics Service-Hospital de Clinicas de Porto Alegre-Brazil, Porto Alegre, RS, Brazil.; Mutlu MB; Department of Medical Genetics, Detagen Genetic Diseases Evaluation Center, Kayseri, Türkiye.; Ourani S; Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.; Bergman A; Hannover Medical School, Institute of Human Genetics, Hannover, Germany.; Schoch K; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Per H; Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.; Bingol NN; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye.; Temel SG; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Türkiye; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Türkiye.; Durdağı S; Laboratory for Innovative Drugs (Lab4IND), Computational Drug Design Center (HİTMER), Bahçeşehir University, 34734, İstanbul, Türkiye; Molecular Therapy Lab, Department of Pharmaceutical Chemistry, School of Pharmacy, Bahcesehir University, Istanbul, Türkiye; Systems Biology Lab, Biruni University Scientific Research Center, Biruni University, Istanbul, Türkiye. Electronic address: serdar.durdagi@bau.edu.tr.; Hız S; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, 35340, Turkey.; Bernard G; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada; Department of Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, McGill University Health Centre Research Institute, Montreal, Canada; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada.; Tobon FV; Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. Electronic address: s.efthymiou@ucl.ac.uk.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101731730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-260X (Electronic) Linking ISSN: 09254439 NLM ISO Abbreviation: Biochim Biophys Acta Mol Basis Dis Subsets: MEDLINE