Joanna C Jen, Jijun Wan. Handb Clin Neurol 2018
Times Cited: 4
Times Cited: 4
Times Cited
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Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hanna. Brain 2014
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Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui,[...]. Brain 2004
Isabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, João Guimarães, Ali Benomar, Céline Chamayou, Cyril Goizet, Maria-Ceù Moreira, Sandra Klur, Mohamed Yahyaoui,[...]. Brain 2004
50
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls,[...]. Nat Genet 2004
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls,[...]. Nat Genet 2004
50
Genetic Variants Associated with Episodic Ataxia in Korea.
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin,[...]. Sci Rep 2017
50
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Ariel Levy, Anthony E Lang. Mov Disord 2018
Ariel Levy, Anthony E Lang. Mov Disord 2018
50
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik,[...]. Brain 2009
M Anheim, B Monga, M Fleury, P Charles, C Barbot, M Salih, J P Delaunoy, M Fritsch, L Arning, M Synofzik,[...]. Brain 2009
50
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
M Tazir, L Ali-Pacha, A M'Zahem, J P Delaunoy, M Fritsch, S Nouioua, T Benhassine, S Assami, D Grid, J M Vallat,[...]. J Neurol Sci 2009
M Tazir, L Ali-Pacha, A M'Zahem, J P Delaunoy, M Fritsch, S Nouioua, T Benhassine, S Assami, D Grid, J M Vallat,[...]. J Neurol Sci 2009
50
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
J C Jen, T D Graves, E J Hess, M G Hanna, R C Griggs, R W Baloh. Brain 2007
50
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
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Isabelle Le Ber, Maria-Ceù Moreira, Sophie Rivaud-Péchoux, Céline Chamayou, François Ochsner, Thierry Kuntzer, Marc Tardieu, Gérard Saïd, Marie-Odile Habert, Geneviève Demarquay,[...]. Brain 2003
50
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini. Front Cell Neurosci 2015
50
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
Toni S Pearson, Cigdem Akman, Veronica J Hinton, Kristin Engelstad, Darryl C De Vivo. Curr Neurol Neurosci Rep 2013
50
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-Buisson, Diana Ballhausen,[...]. Brain 2010
50
Episodic Ataxias: Clinical and Genetic Features.
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
Kwang-Dong Choi, Jae-Hwan Choi. J Mov Disord 2016
50
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
Dong Wang, Juan M Pascual, Hong Yang, Kristin Engelstad, Sarah Jhung, Ruo Peng Sun, Darryl C De Vivo. Ann Neurol 2005
50
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.
Matthis Synofzik, Julia Schicks, Tobias Lindig, Saskia Biskup, Thorsten Schmidt, Jochen Hansel, Frank Lehmann-Horn, Ludger Schöls. J Med Genet 2011
Matthis Synofzik, Julia Schicks, Tobias Lindig, Saskia Biskup, Thorsten Schmidt, Jochen Hansel, Frank Lehmann-Horn, Ludger Schöls. J Med Genet 2011
50
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
M Strupp, R Kalla, J Claassen, C Adrion, U Mansmann, T Klopstock, T Freilinger, H Neugebauer, R Spiegel, M Dichgans,[...]. Neurology 2011
50
Clinical and molecular features of spinocerebellar ataxia type 6.
G Stevanin, A Dürr, G David, O Didierjean, G Cancel, S Rivaud, A Tourbah, J M Warter, Y Agid, A Brice. Neurology 1997
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Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes.
K G Rottach, D E Riley, A O DiScenna, A Z Zivotofsky, R J Leigh. Ann Neurol 1996
K G Rottach, D E Riley, A O DiScenna, A Z Zivotofsky, R J Leigh. Ann Neurol 1996
25
Ocular motor abnormalities in ataxia telangiectasia.
R F Lewis, H M Lederman, T O Crawford. Ann Neurol 1999
R F Lewis, H M Lederman, T O Crawford. Ann Neurol 1999
25
Huntington's disease: changes in saccades and hand-tapping over 3 years.
Chrystalina A Antoniades, Zheyu Xu, Sarah L Mason, R H S Carpenter, Roger A Barker. J Neurol 2010
Chrystalina A Antoniades, Zheyu Xu, Sarah L Mason, R H S Carpenter, Roger A Barker. J Neurol 2010
25
The disturbance of gaze in progressive supranuclear palsy: implications for pathogenesis.
Athena L Chen, David E Riley, Susan A King, Anand C Joshi, Alessandro Serra, Ke Liao, Mark L Cohen, Jorge Otero-Millan, Susana Martinez-Conde, Michael Strupp,[...]. Front Neurol 2010
Athena L Chen, David E Riley, Susan A King, Anand C Joshi, Alessandro Serra, Ke Liao, Mark L Cohen, Jorge Otero-Millan, Susana Martinez-Conde, Michael Strupp,[...]. Front Neurol 2010
25
Periodic alternating nystagmus with circumscribed nodular lesion.
Y-M Oh, K-D Choi, S-Y Oh, J S Kim. Neurology 2006
Y-M Oh, K-D Choi, S-Y Oh, J S Kim. Neurology 2006
25
Impaired Tilt Suppression of Post-Rotatory Nystagmus and Cross-Coupled Head-Shaking Nystagmus in Cerebellar Lesions: Image Mapping Study.
Sun-Uk Lee, Jeong-Yoon Choi, Hyo-Jung Kim, Jeong-Jin Park, David S Zee, Ji-Soo Kim. Cerebellum 2017
Sun-Uk Lee, Jeong-Yoon Choi, Hyo-Jung Kim, Jeong-Jin Park, David S Zee, Ji-Soo Kim. Cerebellum 2017
25
The neuroanatomical basis of slow saccades in spinocerebellar ataxia type 2 (Wadia-subtype).
S Geiner, A K E Horn, N H Wadia, H Sakai, J A Büttner-Ennever. Prog Brain Res 2008
S Geiner, A K E Horn, N H Wadia, H Sakai, J A Büttner-Ennever. Prog Brain Res 2008
25
Familial diffuse Lewy body disease, eye movement abnormalities, and distribution of pathology.
Francesca M Brett, Craig Henson, Hugh Staunton. Arch Neurol 2002
Francesca M Brett, Craig Henson, Hugh Staunton. Arch Neurol 2002
25
Smooth pursuit during dose-related on-off fluctuations in Parkinson's disease.
J A Sharpe, W A Fletcher, A E Lang, D H Zackon. Neurology 1987
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Why do patients with PSP fall? Evidence for abnormal otolith responses.
K Liao, J Wagner, A Joshi, I Estrovich, M F Walker, M Strupp, R J Leigh. Neurology 2008
K Liao, J Wagner, A Joshi, I Estrovich, M F Walker, M Strupp, R J Leigh. Neurology 2008
25
Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report.
Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Kim. J Clin Neurol 2016
Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Kim. J Clin Neurol 2016
33
Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.
Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Georg Auburger, Ulf Ziemann, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Yaimeé Vázquez-Mojena, Yanetza González-Zaldivar. Mov Disord 2016
Roberto Rodríguez-Labrada, Luis Velázquez-Pérez, Georg Auburger, Ulf Ziemann, Nalia Canales-Ochoa, Jacqueline Medrano-Montero, Yaimeé Vázquez-Mojena, Yanetza González-Zaldivar. Mov Disord 2016
25
Whipple's disease mimicking progressive supranuclear palsy: the diagnostic value of eye movement recording.
L Averbuch-Heller, G W Paulson, R B Daroff, R J Leigh. J Neurol Neurosurg Psychiatry 1999
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Diffuse Lewy body disease presenting with supranuclear gaze palsy, parkinsonism, and dementia: a case report.
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Vergence disorders in progressive supranuclear palsy.
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Ocular motor characteristics of different subtypes of spinocerebellar ataxia: distinguishing features.
Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae-Won Seo, Yuri Jeong, Ji-Hoon Kang, Jeong Ho Park, Jin Whan Cho. Mov Disord 2013
Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae-Won Seo, Yuri Jeong, Ji-Hoon Kang, Jeong Ho Park, Jin Whan Cho. Mov Disord 2013
25
Late-onset episodic ataxia associated with SLC1A3 mutation.
Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi. J Hum Genet 2017
Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi. J Hum Genet 2017
25
Paraneoplastic downbeat nystagmus associated with cerebellar hypermetabolism especially in the nodulus.
Seo Young Choi, Seong-Ho Park, Hyo-Jung Kim, Ji-Soo Kim. J Neurol Sci 2014
Seo Young Choi, Seong-Ho Park, Hyo-Jung Kim, Ji-Soo Kim. J Neurol Sci 2014
25
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Alexandra Durr. Lancet Neurol 2010
Alexandra Durr. Lancet Neurol 2010
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Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis.
P Bertholon, A M Bronstein, R A Davies, P Rudge, K V Thilo. J Neurol Neurosurg Psychiatry 2002
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Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2.
Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi, Jin-Hong Shin, Kwang-Dong Choi, David S Zee. Cerebellum 2014
Hyo-Jung Kim, Ji-Soo Kim, Jae-Hwan Choi, Jin-Hong Shin, Kwang-Dong Choi, David S Zee. Cerebellum 2014
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Oculomotor function in patients with Parkinson's disease.
M S Corin, T S Elizan, M B Bender. J Neurol Sci 1972
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Ocular motor abnormalities in Parkinsonian syndromes.
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Elmar H Pinkhardt, Jan Kassubek. Parkinsonism Relat Disord 2011
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Isolated floccular infarction: impaired vestibular responses to horizontal head impulse.
Hong-Kyun Park, Ji-Soo Kim, Michael Strupp, David S Zee. J Neurol 2013
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25
Pallidal Deep Brain Stimulation Improves Higher Control of the Oculomotor System in Parkinson's Disease.
Chrystalina A Antoniades, Pedro Rebelo, Christopher Kennard, Tipu Z Aziz, Alexander L Green, James J FitzGerald. J Neurosci 2015
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Antisaccades and executive dysfunction in early drug-naive Parkinson's disease: The discovery study.
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Chrystalina A Antoniades, Nele Demeyere, Christopher Kennard, Glyn W Humphreys, Michele T Hu. Mov Disord 2015
25
Perverted Head-Shaking and Positional Downbeat Nystagmus in Essential Tremor.
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Young Eun Kim, Ji Soo Kim, Hui-Jun Yang, Ji Young Yun, Han-Joon Kim, Gwanhee Ehm, Jong-Min Kim, Beom S Jeon. Cerebellum 2016
25
Ocular motor and manual tracking in Parkinson's disease and the effect of treatment.
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Patterns of spontaneous and head-shaking nystagmus in cerebellar infarction: imaging correlations.
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25
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