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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
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.
Afiliação
  • Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • O'Brien TJ; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom.
  • Karimiani EG; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Takizawa M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
  • Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Romy R; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom.
  • Carroll CJ; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom.
  • Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt.
  • 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.
  • Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Yilmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Kanmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Serin M; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.
  • Krishnakumar D; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom.
  • Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom.
  • Maw A; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
  • Rao TS; Department of Paediatrics, Luton and Dunstable University Hospital, Luton, United Kingdom.
  • Alsubhi S; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada.
  • Srour M; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Center (MUHC), Montreal, Quebec, Canada.
  • Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC.
  • Goldberg RE; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC.
  • Shamseldin H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway.
  • Magliocco Ceroni JR; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Kim CA; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Yesil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Sengenc E; Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
Genet Med ; 25(1): 90-102, 2023 01.
Article em En | MEDLINE | ID: mdl-36318270
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Distonia / Transtornos dos Movimentos Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Distonia / Transtornos dos Movimentos Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos