Jian-Feng Xiao

Most-cited papers

1. Mutations in CIZ1 cause adult-onset primary cervical dystonia

   Jian-Feng Xiao, R. Uitti, Yu Zhao, Satya R Vemula +7 more

   2012Annals of Neurology146 citations Open access

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2. Neuropathology of Cervical Dystonia

   Cecília N. Prudente, C. Pardo, Jian-Feng Xiao, John Hanfelt +3 more

   2012Experimental Neurology115 citations Open access

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3. Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

   Satya R Vemula, A. Puschmann, Jian-Feng Xiao, Yu Zhao +5 more

   2013Human Molecular Genetics112 citations Open access

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4. Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

   Z. Cen, Zheng-Wen Jiang, You Chen, Xiao-Sheng Zheng +20 more

   2018Brain : a journal of neurology87 citations

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5. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases

   M. LeDoux, Jian-Feng Xiao, M. Rudzińska, R. Bastian +6 more

   2012Parkinsonism & Related Disorders86 citations Open access

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6. Developmental expression of rat torsinA transcript and protein.

   Jian-Feng Xiao, S. Gong, Yu Zhao, M. LeDoux

   2004Brain research. Developmental brain research67 citations

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7. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24

   B. Tang, W. Luo, K. Xia, Jian-Feng Xiao +10 more

   2004Human Genetics58 citations

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8. Clinical and genetic features of cervical dystonia in a large multicenter cohort

   M. LeDoux, Satya R Vemula, Jian-Feng Xiao, Misty M. Thompson +17 more

   2016Neurology: Genetics48 citations Open access

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9. A recurrent de novo missense mutation in UBTF causes developmental neuroregression

   Camilo Toro, Roderick T. Hori, M. Malicdan, C. Tifft +15 more

   2018Human Molecular Genetics47 citations Open access

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10. Caytaxin deficiency causes generalized dystonia in rats.

    Jian-Feng Xiao, M. LeDoux

    2005Brain Research. Molecular Brain Research44 citations

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11. Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome

    Jian-Feng Xiao, Satya R Vemula, Yi Xue, M. Khan +6 more

    2016Neurobiology of Disease42 citations Open access

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12. Cloning, developmental regulation and neural localization of rat ε-sarcoglycan

    Jian-Feng Xiao, M. LeDoux

    200342 citations

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13. High-throughput mutational analysis of TOR1A in primary dystonia

    Jian-Feng Xiao, R. Bastian, J. Perlmutter, B. Racette +16 more

    2009BMC Medical Genetics35 citations Open access

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14. JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family

    S. Schneider, K. Marshall, Jian-Feng Xiao, M. LeDoux

    2012Neurogenetics30 citations Open access

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15. Glial elements contribute to stress-induced torsinA expression in the CNS and peripheral nervous system.

    Yu Zhao, Jian-Feng Xiao, Masayuki Ueda, Yue Wang +3 more

    2008Neuroscience30 citations Open access

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16. Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

    F. Xie, Z. Cen, Zhi-Yuan Ouyang, Sheng Wu +2 more

    2015Parkinsonism & Related Disorders29 citations

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17. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

    P. Hedera, Jian-Feng Xiao, A. Puschmann, D. Momčilović +2 more

    2012BMC Neurology28 citations Open access

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18. Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy

    Z. Cen, You Chen, Dehao Yang, Qingchen Zhu +24 more

    2019Movement Disorders27 citations

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19. Caytaxin deficiency disrupts signaling pathways in cerebellar cortex.

    Jian-Feng Xiao, S. Gong, M. LeDoux

    2007Neuroscience26 citations Open access

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20. DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice

    M. Khan, Jian-Feng Xiao, Damini Patel, M. LeDoux

    2018Neurobiology of Aging25 citations Open access

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21. Presynaptic PRRT2 deficiency causes cerebellar dysfunction and paroxysmal kinesigenic dyskinesia

    D. Calame, Jian-Feng Xiao, M. Khan, T. J. Hollinsworth +3 more

    2020Neuroscience24 citations Open access

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22. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

    Satya R Vemula, Jian-Feng Xiao, Yu Zhao, R. Bastian +15 more

    2014Molecular Genetics & Genomic Medicine24 citations Open access

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23. Neural expression of the transcription factor THAP1 during development in rat

    Yu Zhao, Jian-Feng Xiao, S. Gong, Joseph A. Clara +1 more

    2012Neuroscience24 citations Open access

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24. Cloning, developmental regulation and neural localization of rat epsilon-sarcoglycan.

    Jian-Feng Xiao, M. LeDoux

    2003Brain Research. Molecular Brain Research24 citations

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25. Whole‐exome sequencing for variant discovery in blepharospasm

    Jun Tian, Satya R Vemula, Jian-Feng Xiao, E. Valente +11 more

    2018Molecular Genetics & Genomic Medicine23 citations Open access

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26. Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy

    Z. Cen, Chunping Huang, Hou-Min Yin, Xue-Ping Ding +9 more

    2016Movement Disorders22 citations

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27. Recent Advances in the Genetics of Dystonia

    Jian-Feng Xiao, Satya R Vemula, M. LeDoux

    2014Current Neurology and Neuroscience Reports22 citations Open access

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28. Fine mapping and whole‐exome sequencing of a familial cortical myoclonic tremor with epilepsy family

    Z. Cen, F. Xie, D. Lou, Xing Lu +8 more

    2015American Journal of Medical Genetics Part B: Neuropsychiatric Genetics21 citations

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29. Murine central and peripheral nervous system transcriptomes: comparative gene expression.

    M. LeDoux, Li-Jing Xu, Jian-Feng Xiao, B. Ferrell +2 more

    2006Brain Research20 citations

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30. The c.-237_236GA>TT THAP1 Sequence Variant Does Not Increase Risk for Primary Dystonia

    Jian-Feng Xiao, Yu Zhao, R. Bastian, J. Perlmutter +17 more

    2011Movement Disorders19 citations Open access

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31. A Novel Variant of ATP5MC3 associated with both dystonia and spastic paraplegia

    D. Neilson, M. Zech, R. Hufnagel, J. Slone +14 more

    2021Movement Disorders17 citations Open access

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32. Pathogenic variants in TUBB4A are not found in primary dystonia

    Satya R Vemula, Jian-Feng Xiao, R. Bastian, D. Momčilović +2 more

    2014Neurology17 citations Open access

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33. Motor phenotypes and molecular networks associated with germline deficiency of Ciz1

    Jian-Feng Xiao, Satya R Vemula, Yi Xue, M. Khan +4 more

    2016Experimental Neurology16 citations Open access

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34. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

    M. Moscovich, M. LeDoux, Jian-Feng Xiao, G. Rampon +4 more

    2013BMC Medical Genetics14 citations Open access

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35. Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

    Z. Cen, F. Xie, Jian-Feng Xiao, W. Luo

    2016Seizure13 citations Open access

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36. Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol

    M. Khan, Jian-Feng Xiao, T. Hollingsworth, Damini Patel +3 more

    2019Experimental Neurology12 citations Open access

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37. An African-American Family with Dystonia

    A. Puschmann, Jian-Feng Xiao, R. Bastian, J. A. Searcy +2 more

    2011Parkinsonism & Related Disorders11 citations Open access

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38. Novel compound heterozygous ALS2 mutations in two Chinese siblings with infantile ascending hereditary spastic paralysis

    F. Xie, Z. Cen, Jian-Feng Xiao, W. Luo

    2015Neurological Sciences10 citations

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39. Maternal fever during preconception and conception is associated with congenital heart diseases in offspring

    Gui-Hong Yang, Xi-Cheng Deng, Jian-Feng Xiao, Peng Huang +2 more

    2021Medicine9 citations Open access

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40. Cloning and mutation analysis of the human potassium channel KCNQ2 gene promoter

    Jian-Feng Xiao, C. Fischer, O. Steinlein

    2001NeuroReport9 citations

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41. Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.

    Ru-Xu Zhang, W. Luo, X. Zi, K. Xia +7 more

    2005Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences5 citations

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42. Blepharospasm in a multiplex African-American pedigree

    Jian-Feng Xiao, Misty M. Thompson, Satya R Vemula, M. LeDoux

    2016Journal of Neurological Sciences4 citations Open access

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43. Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

    Jian-Feng Xiao, Yu Zhao, R. Bastian, J. Perlmutter +17 more

    2010Human Genetics4 citations

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44. Consequences of Cre-Mediated Deletion of Ciz1 Exon 5 in Mice

    Jian-Feng Xiao, M. Khan, Satya R Vemula, Jun Tian +1 more

    2018FEBS Letters3 citations Open access

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45. Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

    Jian-Feng Xiao, Yu Zhao, R. Bastian, J. Perlmutter +17 more

    2010Human Genetics3 citations

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46. Palmaris Brevis Syndrome: A Treatable Pseudodystonia

    M. LeDoux, Jian-Feng Xiao

    2021Tremor and Other Hyperkinetic Movements2 citations Open access

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47. Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

    Jian-Feng Xiao, Yu Zhao, R. Bastian, J. Perlmutter +17 more

    2010Human Genetics2 citations

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48. [The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].

    Fu-Feng Zhang, B. Tang, Guo-Hua Zhao, W. Luo +9 more

    2005Zhonghua yi xue za zhi2 citations

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49. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].

    Jian-Feng Xiao, B. Tang, J. Xia

    2001Zhonghua yi xue za zhi2 citations

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50. [X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].

    W. Luo, B. Tang, Jian-Feng Xiao

    2001Zhonghua nei ke za zhi2 citations

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