Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
-
Published:2023-01
Issue:1
Volume:25
Page:90-102
-
ISSN:1098-3600
-
Container-title:Genetics in Medicine
-
language:en
-
Short-container-title:Genetics in Medicine
Author:
Saida KenORCID, 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 NaomichiORCID
Funder
Muscular Dystrophy Association Ataxia UK American Brain Foundation European Research Council American Academy of Neurology King Salman Center for Disability Research Brain Research UK National Institute of Neurological Disorders and Stroke Baylor-Hopkins Center for Mendelian Genomics International Rett Syndrome Foundation Medical Research Council National Institutes of Health Muscular Dystrophy UK University College London Hospitals Biomedical Research Centre National Heart, Lung, and Blood Institute Multiple System Atrophy Trust National Human Genome Research Institute Rosetrees Trust Takeda Science Foundation Great Ormond Street Hospital Charity Japan Agency for Medical Research and Development Japan Society for the Promotion of Science Horizon 2020 Framework Programme Horizon 2020
Subject
Genetics (clinical)
Reference42 articles.
1. Monoamine neurotransmitter disorders—clinical advances and future perspectives;Ng;Nat Rev Neurol,2015 2. Infantile parkinsonism-dystonia: a dopamine “transportopathy”;Blackstone;J Clin Invest,2009 3. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes;Kurian;Lancet Neurol,2011 4. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia;Kurian;J Clin Invest,2009 5. Kurian MA. SLC6A3-related dopamine transporter deficiency syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1993-2022.
Cited by
12 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
|
|