- 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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5,473
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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
- Purposeless Groaning in Parkinson’s Disease
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Shen-Yang Lim, Ai Huey Tan, Jia Lun Lim, Azlina Ahmad-Annuar
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J Mov Disord. 2018;11(2):87-88. Published online May 30, 2018
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DOI: https://doi.org/10.14802/jmd.18004
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8,742
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- Purpose
less groaning has been reported in advanced progressive supranuclear palsy. We present a case of purposeless groaning occurring as a primary complaint in a patient with advanced Parkinson’s disease. Purposeless groaning is thought to be a manifestation of disinhibition and perseveration due to frontal-subcortical dysfunction. Proper recognition of this phenomenon will help clinicians to avoid unnecessary investigations and treatment (e.g., prescription of opioid medications).
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- OFF-Period Purposeless Groaning in Parkinsonism
Vikash Agarwal, Jeyalakshmi Rajan, Norlisah Ramli, Cecilia Santiago, Dushyanth B Jasti, Ai Huey Tan, Shen-Yang Lim Neurology India.2022; 70(3): 1232. CrossRef - Involuntary moaning in a Hispanic family with eight affected members
Maria Gisatulin, Malco Rossi, Claudia Perandones, Christine Klein, Katja Lohmann, Marcelo Merello Parkinsonism & Related Disorders.2021; 89: 206. CrossRef - Involuntary Groaning Induced by Levodopa Therapy in a Patient With Progressive Supranuclear Palsy
Jung E. Park JAMA Neurology.2020; 77(12): 1569. CrossRef - Clinical Phenotype of LRRK2 R1441C in 2 Chinese Sisters
Shen-Yang Lim, Jia Lun Lim, Azlina Ahmad-Annuar, Katja Lohmann, Ai Huey Tan, Kai Bin Lim, Yi Wen Tay, Yee Lee Shing, Kalai Arasu Muthusamy, Peter Bauer, Arndt Rolfs, Christine Klein Neurodegenerative Diseases.2020; 20(1): 39. CrossRef - The spectrum of involuntary vocalizations in humans: A video atlas
Tina Mainka, Bettina Balint, Felix Gövert, Lille Kurvits, Christoph van Riesen, Andrea A. Kühn, Marina A.J. Tijssen, Andrew J. Lees, Kirsten Müller‐Vahl, Kailash P. Bhatia, Christos Ganos Movement Disorders.2019; 34(12): 1774. 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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26,911
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13
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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
Qiuhong Xiong, Huimin Sun, Yanlin Wang, Qian Xu, Yu Zhang, Mei Xu, Zhonghua Zhao, Ping Li, Changxin Wu Lipids in Health and Disease.2024;[Epub] CrossRef - L-serine restored lysosomal failure in cells derived from patients with BPAN reducing iron accumulation with eliminating lipofuscin
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
Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth Biomolecules.2022; 12(5): 714. CrossRef - Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders
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
Jenny L Wilson, Allison Gregory, Manju A Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J Hayflick Developmental Medicine & Child Neurology.2021; 63(12): 1402. CrossRef - WDR45, one gene associated with multiple neurodevelopmental disorders
Yingying Cong, Vincent So, Marina A. J. Tijssen, Dineke S. Verbeek, Fulvio Reggiori, Mario Mauthe Autophagy.2021; 17(12): 3908. CrossRef - Towards Precision Therapies for Inherited Disorders of Neurodegeneration with Brain Iron Accumulation
Robert V.V. Spaull, Audrey K.S. Soo, Penelope Hogarth, Susan J. Hayflick, Manju A. Kurian Tremor and Other Hyperkinetic Movements.2021;[Epub] CrossRef - The roles of iron and HFE genotype in neurological diseases
Yunsung Kim, James R. Connor Molecular Aspects of Medicine.2020; 75: 100867. CrossRef - The Contribution of Iron to Protein Aggregation Disorders in the Central Nervous System
Karina Joppe, Anna-Elisa Roser, Fabian Maass, Paul Lingor Frontiers in Neuroscience.2019;[Epub] CrossRef
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