- Hyperglycemia-Associated Hemichorea-Hemiballismus with Predominant Ipsilateral Putaminal Abnormality on Neuroimaging
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Si Lei Fong, Ai Huey Tan, Kar Foo Lau, Norlisah Ramli, Shen-Yang Lim
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J Mov Disord. 2019;12(3):187-189. Published online August 9, 2019
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DOI: https://doi.org/10.14802/jmd.19014
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- Effect of Infection on the Incidence of Hyperglycemic Hemichorea: A Case-Series
Rui Wang, Meng Li, Yao Wang, Chao Zhi Tang, Yuan Chen Wang Diabetes, Metabolic Syndrome and Obesity.2024; Volume 17: 3455. CrossRef - Relationship Between Diabetic Chorea and Timing of MRI Findings: A Systematic Review with Case Reports
Yumi Otaka, Yukinori Harada, Norio Sugawara, Taro Shimizu, Norio Yasui-Furukori International Journal of General Medicine.2023; Volume 16: 4465. CrossRef - The Possible Precipitating Role of SARS-CoV-2 in a Case of Late-Onset Hemichorea Due to a Hyperosmolar Hyperglycemic State: Case Report and Brief Literature Review
Roberto Sperotto, Laura Ceccarelli, Yan Tereshko, Giovanni Merlino, Gian Luigi Gigli, Mariarosaria Valente Medicina.2023; 59(11): 1949. CrossRef - Consideration for Hemiballismus in the Differential Diagnosis: A Rare Case of Hyperosmolar Hyperglycemic State
Iman Isayli, Nicolas Ulloa, John Childress Cureus.2022;[Epub] CrossRef - A Case of Diabetic Hemichorea Hemiballismus Exacerbated by Hypoglycemia
Jessica Rupp, Avrum Gillespie AACE Clinical Case Reports.2021;[Epub] CrossRef - Hemicorea inducida por hiperglucemia no cetósica: discordancia clínicorradiológica
Juan Pablo García Marmolejo, Manuel David Mayoral Valencia, Paola Andrea Tejada Serna Universitas Médica.2021;[Epub] CrossRef
- Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities
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Ai Huey Tan, Tien Lee Ong, Norlisah Ramli, Li Kuo Tan, Jia Lun Lim, Mohamad Addin Azhan, Azlina Ahmad-Annuar, Khairul Azmi Ibrahim, Zariah Abdul-Aziz, Laurie J. Ozelius, Allison Brashear, Shen-Yang Lim
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J Mov Disord. 2019;12(2):132-134. Published online May 30, 2019
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DOI: https://doi.org/10.14802/jmd.18063
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- White matter and cerebellar involvement in alternating hemiplegia of childhood
Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis Journal of Neurology.2020; 267(5): 1300. CrossRef
- A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy
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Shen-Yang Lim, Ai Huey Tan, Azlina Ahmad-Annuar, Susanne A. Schneider, Ping Chong Bee, Jia Lun Lim, Norlisah Ramli, Mohamad Imran Idris
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J Mov Disord. 2018;11(2):89-92. Published online May 30, 2018
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DOI: https://doi.org/10.14802/jmd.17082
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Abstract
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- We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology was characterized primarily by limb stereotypies and gait dyspraxia. The patient’s disability was advanced by the time iron-chelating therapy with deferiprone was initiated, and no clinical response in terms of cognitive function, behavior, speech, or movements were observed after one year of treatment.
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- Metabolic impairments in neurodegeneration with brain iron accumulation
Agata Wydrych, Barbara Pakuła, Justyna Janikiewicz, Aneta M. Dobosz, Patrycja Jakubek-Olszewska, Marta Skowrońska, Iwona Kurkowska-Jastrzębska, Maciej Cwyl, Mariola Popielarz, Paolo Pinton, Barbara Zavan, Agnieszka Dobrzyń, Magdalena Lebiedzińska-Arciszew Biochimica et Biophysica Acta (BBA) - Bioenergetics.2025; 1866(1): 149517. CrossRef - Lipid droplet accumulation in Wdr45-deficient cells caused by impairment of chaperone-mediated autophagic degradation of Fasn
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Hye Eun Lee, Minkyo Jung, Kiju Choi, Jae Hyuck Jang, Su-Kyeong Hwang, Sehyun Chae, Jae-Hyeok Lee, Ji Young Mun Free Radical Biology and Medicine.2024; 221: 273. CrossRef - Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F. Hoffmann, Stefan Kölker, Markus Ries, Steffen Syrbe Autophagy.2022; 18(7): 1715. CrossRef - Cerebral Iron Deposition in Neurodegeneration
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Rachel M. Wise, Annika Wagener, Urban M. Fietzek, Thomas Klopstock, Eugene V. Mosharov, Fabio A. Zucca, David Sulzer, Luigi Zecca, Lena F. Burbulla Neurobiology of Disease.2022; 175: 105920. CrossRef -
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction
Kiwako Tsukida, Shin-ichi Muramatsu, Hitoshi Osaka, Takanori Yamagata, Kazuhiro Muramatsu Brain Communications.2022;[Epub] CrossRef - Iron Chelation in Movement Disorders: Logical or Ironical
Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2021; : 1. CrossRef - Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders
Vassilena Iankova, Ivan Karin, Thomas Klopstock, Susanne A. Schneider Frontiers in Neurology.2021;[Epub] CrossRef - Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration
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