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A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo
J Mov Disord. 2020;13(1):66-68.   Published online August 9, 2019
DOI: https://doi.org/10.14802/jmd.19038
  • 6,742 View
  • 104 Download
  • 3 Web of Science
  • 3 Crossref
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Citations

Citations to this article as recorded by  
  • Cerebral Iron Deposition in Neurodegeneration
    Petr Dusek, Tim Hofer, Jan Alexander, Per M. Roos, Jan O. Aaseth
    Biomolecules.2022; 12(5): 714.     CrossRef
  • Pathogenic mechanism and modeling of neuroferritinopathy
    Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
    Cellular and Molecular Life Sciences.2021; 78(7): 3355.     CrossRef
  • Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
    Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
    Frontiers in Neurology.2020;[Epub]     CrossRef
Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy
So Hoon Yoon, Nan Young Kim, Yun Joong Kim, Chul Hyoung Lyoo
J Mov Disord. 2019;12(1):63-65.   Published online January 30, 2019
DOI: https://doi.org/10.14802/jmd.18062
  • 5,820 View
  • 80 Download
  • 5 Web of Science
  • 5 Crossref
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Citations

Citations to this article as recorded by  
  • Transcriptome Profile in the Mouse Brain of Hepatic Encephalopathy and Alzheimer’s Disease
    Young-Kook Kim, Yoon Seok Jung, Juhyun Song
    International Journal of Molecular Sciences.2022; 24(1): 675.     CrossRef
  • Pathogenic mechanism and modeling of neuroferritinopathy
    Anna Cozzi, Paolo Santambrogio, Maddalena Ripamonti, Ermanna Rovida, Sonia Levi
    Cellular and Molecular Life Sciences.2021; 78(7): 3355.     CrossRef
  • A Patient with Neuroferritinopathy Presenting with Juvenile-Onset Voice Tremor
    Chan Wook Park, Nan Young Kim, Yun Joong Kim, Sook Keun Song, Chul Hyoung Lyoo
    Journal of Movement Disorders.2020; 13(1): 66.     CrossRef
  • Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation
    Jae-Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration
    Barry B. Muhoberac, Ruben Vidal
    Frontiers in Neuroscience.2019;[Epub]     CrossRef
Presynaptic Dopaminergic Degeneration in a Patient with Beta-Propeller Protein-Associated Neurodegeneration Documented by Dopamine Transporter Positron Emission Tomography Images: A Case Report
Min Ki Kim, Nan Young Kim, Sangkyoon Hong, Hyeo-Il Ma, Yun Joong Kim
J Mov Disord. 2017;10(3):161-163.   Published online September 12, 2017
DOI: https://doi.org/10.14802/jmd.17044
  • 5,306 View
  • 94 Download
  • 2 Web of Science
  • 3 Crossref
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Citations

Citations to this article as recorded by  
  • Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration
    Takahiro Shimizu, Norito Tamura, Taki Nishimura, Chieko Saito, Hayashi Yamamoto, Noboru Mizushima
    Human Molecular Genetics.2023; 32(16): 2623.     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, 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
Case Report
Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2017;10(1):53-58.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16044
  • 10,750 View
  • 204 Download
  • 12 Web of Science
  • 11 Crossref
AbstractAbstract PDFSupplementary Material
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.

Citations

Citations to this article as recorded by  
  • Hereditary hyperekplexia: a new family and a systematic review of GLRA1 gene-related phenotypes
    Elisabetta Ferraroli, Marco Perulli, Chiara Veredice, Ilaria Contaldo, Michela Quintiliani, Martina Ricci, Ilaria Venezia, Luigi Citrigno, Antonio Qualtieri, Patrizia Spadafora, Francesca Cavalcanti, Domenica Immacolata Battaglia
    Pediatric Neurology.2022;[Epub]     CrossRef
  • Paroxysmal Nonepileptic Events in Children
    Ilaria Lagorio, Lorenzo Brunelli, Pasquale Striano
    Neurology Clinical Practice.2022; 12(4): 320.     CrossRef
  • Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
    Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, Zuhal Yapıcı
    Parkinsonism & Related Disorders.2022; 105: 128.     CrossRef
  • Advances in hyperekplexia and other startle syndromes
    Fei-xia Zhan, Shi-Ge Wang, Li Cao
    Neurological Sciences.2021; 42(10): 4095.     CrossRef
  • A Case of Hyperekplexia That Started From Childhood: Clinical Diagnosis With Negative Genetic Investigations
    Annibale Antonioni, Giovanni Peschi, Enrico Granieri
    Frontiers in Neurology.2020;[Epub]     CrossRef
  • Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
    Feixia Zhan, Chao Zhang, Shige Wang, Zeyu Zhu, Guang Chen, Mingliang Zhao, Li Cao
    Journal of Clinical Neurology.2020; 16(2): 230.     CrossRef
  • C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia
    Yan Zhang, Ling-Ling Wu, Xiao-Lan Zheng, Cai-Mei Lin
    Medicine.2020; 99(17): e19968.     CrossRef
  • Hyperekplexia and other startle syndromes
    Arushi Gahlot Saini, Sanjay Pandey
    Journal of the Neurological Sciences.2020; 416: 117051.     CrossRef
  • Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
    Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia
    BMC Medical Genetics.2019;[Epub]     CrossRef
  • Weird Laughing in Hyperekplexia: A new phenotype associated with a novel mutation in the GLRA1 gene?
    Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
    Seizure.2018; 58: 6.     CrossRef
  • A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
    Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
    BMC Medical Genetics.2017;[Epub]     CrossRef

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