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Joanna Jen - Publications

Affiliations: 
Department of Neurology Icahn School of Medicine at Mount Sinai, New York, NY, United States 
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36 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2022 Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG. Correction to: Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. Cerebellum (London, England). PMID 35904745 DOI: 10.1007/s12311-022-01450-z  0.548
2022 Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG. Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. Cerebellum (London, England). PMID 35655106 DOI: 10.1007/s12311-021-01360-6  0.596
2021 Macaron G, Khoury J, Hajj-Ali RA, Prayson RA, Srivastava S, Ehlers JP, Mamsa H, Liszewski MK, Jen JC, Bermel RA, Ontaneda D. Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease. Multiple Sclerosis and Related Disorders. 52: 103015. PMID 34044261 DOI: 10.1016/j.msard.2021.103015  0.359
2018 Jen JC, Wan J. Episodic ataxias. Handbook of Clinical Neurology. 155: 205-215. PMID 29891059 DOI: 10.1016/B978-0-444-64189-2.00013-5  0.449
2018 Jen JC, Wan J. Episodic ataxias. Handbook of Clinical Neurology. 148: 521-529. PMID 29478597 DOI: 10.1016/B978-0-444-64076-5.00033-8  0.354
2017 Gillespie A, Gabunilas J, Jen JC, Chanfreau GF. Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae. Rna (New York, N.Y.). PMID 28053271 DOI: 10.1261/Rna.060004.116  0.321
2016 Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH. Late-onset episodic ataxia associated with SLC1A3 mutation. Journal of Human Genetics. PMID 27829685 DOI: 10.1038/jhg.2016.137  0.419
2016 Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman ML, de Jong PT, de Smet MD, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain : a Journal of Neurology. PMID 27604306 DOI: 10.1093/Brain/Aww217  0.646
2015 Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, ... Jen JC, et al. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. 47: 579-81. PMID 25938945 DOI: 10.1038/Ng.3289  0.394
2014 Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathology (Zurich, Switzerland). 24: 510-8. PMID 25323666 DOI: 10.1111/Bpa.12178  0.345
2014 Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain : a Journal of Neurology. 137: 1009-18. PMID 24578548 DOI: 10.1093/brain/awu012  0.677
2013 Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, ... ... Jen JC, et al. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 14: 11-22. PMID 23334463 DOI: 10.1007/S10048-012-0349-2  0.464
2013 Rudnik-Schöneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, et al. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 80: 438-46. PMID 23284067 DOI: 10.1212/WNL.0b013e31827f0f66  0.42
2012 Jen JC, Lopez I, Baloh RW. Opsoclonus: clinical and immunological features. Journal of the Neurological Sciences. 320: 61-5. PMID 22818114 DOI: 10.1016/j.jns.2012.06.017  0.54
2011 Wan J, Mamsa H, Johnston JL, Spriggs EL, Singer HS, Zee DS, Al-Bayati AR, Baloh RW, Jen JC. Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. Frontiers in Neurology. 2: 51. PMID 21927611 DOI: 10.3389/fneur.2011.00051  0.684
2009 Jen JC, Baloh RW. Familial episodic ataxia: a model for migrainous vertigo. Annals of the New York Academy of Sciences. 1164: 252-6. PMID 19645908 DOI: 10.1111/j.1749-6632.2008.03723.x  0.673
2009 de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Archives of Neurology. 66: 97-101. PMID 19139306 DOI: 10.1001/Archneurol.2008.535  0.683
2008 Marti S, Baloh RW, Jen JC, Straumann D, Jung HH. Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation. European Neurology. 60: 16-20. PMID 18437043 DOI: 10.1159/000127974  0.694
2008 Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Phenotypic and genetic analysis of a large family with migraine-associated vertigo Headache. 48: 1460-1467. PMID 18081823 DOI: 10.1111/j.1526-4610.2007.01002.x  0.647
2008 Shook SJ, Mamsa H, Jen JC, Baloh RW, Zhou L. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea Muscle and Nerve. 37: 399-402. PMID 17912752 DOI: 10.1002/mus.20904  0.704
2007 Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nature Genetics. 39: 1068-70. PMID 17660820 DOI: 10.1038/Ng2082  0.616
2007 Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. Association of progesterone receptor with migraine-associated vertigo Neurogenetics. 8: 195-200. PMID 17609999 DOI: 10.1007/s10048-007-0091-3  0.585
2007 Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Archives of Neurology. 64: 749-52. PMID 17502476 DOI: 10.1001/archneur.64.5.749  0.589
2006 Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. Human Molecular Genetics. 15: 251-8. PMID 16330481 DOI: 10.1093/Hmg/Ddi441  0.645
2006 Bhidayasiri R, Jen JC, Baloh RW. Three brothers with a very-late-onset writer's cramp. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1375-7. PMID 15954129 DOI: 10.1002/mds.20568  0.609
2005 Kerber KA, Jen JC, Perlman S, Baloh RW. Late-onset pure cerebellar ataxia: Differentiating those with and without identifiable mutations Journal of the Neurological Sciences. 238: 41-45. PMID 16109427 DOI: 10.1016/j.jns.2005.06.006  0.668
2005 Jen J, Baloh RH, Ishiyama A, Baloh RW. Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. Journal of the Neurological Sciences. 237: 21-4. PMID 15992829 DOI: 10.1016/j.jns.2005.05.003  0.634
2005 Rucker JC, Jen J, Stahl JS, Natesan N, Baloh RW, Leigh RJ. Internuclear ophthalmoparesis in episodic ataxia type 2. Annals of the New York Academy of Sciences. 1039: 571-4. PMID 15827025 DOI: 10.1196/annals.1325.070  0.657
2005 Wan J, Carr JR, Baloh RW, Jen JC. Nonconsensus intronic mutations cause episodic ataxia. Annals of Neurology. 57: 131-5. PMID 15622542 DOI: 10.1002/Ana.20343  0.683
2004 Lee H, Wang H, Jen JC, Sabatti C, Baloh RW, Nelson SF. A novel mutation in KCNA1 causes episodic ataxia without myokymia. Human Mutation. 24: 536. PMID 15532032 DOI: 10.1002/Humu.9295  0.711
2004 Jen JC, Kim GW, Dudding KA, Baloh RW. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Archives of Neurology. 61: 926-8. PMID 15210532 DOI: 10.1001/archneur.61.6.926  0.663
2004 Baloh RH, Jen JC, Kim G, Baloh RW. Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene). Neurology. 62: 1905-6. PMID 15159512  0.622
2004 Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (New York, N.Y.). 304: 1509-13. PMID 15105459 DOI: 10.1126/Science.1096437  0.574
2003 Sasaki O, Jen JC, Baloh RW, Kim GW, Isawa M, Usami S. Neurotological findings in a family with episodic ataxia. Journal of Neurology. 250: 373-5. PMID 12749331 DOI: 10.1007/s00415-003-0994-3  0.613
2002 Jen JC, Baloh RW. Genetics of episodic ataxia. Advances in Neurology. 89: 459-61. PMID 11968470  0.571
2002 Baloh RW, Jen JC. Genetics of familial episodic vertigo and ataxia. Annals of the New York Academy of Sciences. 956: 338-45. PMID 11960817 DOI: 10.1111/j.1749-6632.2002.tb02832.x  0.696
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