Literature DB >> 23435702

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.

Toshitaka Kawarai, Paul Matthew D Pasco, Rosalia A Teleg, Masaki Kamada, Waka Sakai, Komei Shimozono, Makoto Mizuguchi, Daisy Tabuena, Antonio Orlacchio, Yuishin Izumi, Satoshi Goto, Lillian V Lee, Ryuji Kaji.   

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Year:  2013        PMID： 23435702     DOI： 10.1007/s10048-013-0357-x

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  5 in total

Review 1.  The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").

Authors:  Lillian V Lee; Corazon Rivera; Rosalia A Teleg; Marita B Dantes; Paul Matthew D Pasco; Roland Dominic G Jamora; Jose Arancillo; Rodelyn F Villareal-Jordan; Raymond L Rosales; Cynthia Demaisip; Elma Maranon; Olivia Peralta; Ruth Borres; Cirnueb Tolentino; Mercy Joyce Monding; Sonia Sarcia
Journal:  Int J Neurosci       Date:  2010-11-03       Impact factor: 2.292

2.  Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.

Authors:  Satoshi Makino; Ryuji Kaji; Satoshi Ando; Maiko Tomizawa; Katsuhito Yasuno; Satoshi Goto; Shinnichi Matsumoto; Maria Daisy Tabuena; Elma Maranon; Marita Dantes; Lillian V Lee; Kazumasa Ogasawara; Ikuo Tooyama; Hiroyasu Akatsu; Masataka Nishimura; Gen Tamiya
Journal:  Am J Hum Genet       Date:  2007-01-23       Impact factor: 11.025

Review 3.  The general transcription machinery and general cofactors.

Authors:  Mary C Thomas; Cheng-Ming Chiang
Journal:  Crit Rev Biochem Mol Biol       Date:  2006 May-Jun       Impact factor: 8.250

4.  Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

Authors:  Dagmar Nolte; Stephan Niemann; Ulrich Müller
Journal:  Proc Natl Acad Sci U S A       Date:  2003-08-19       Impact factor: 11.205

5.  X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.

Authors:  Thilo Herzfeld; Dagmar Nolte; Maria Grznarova; Andrea Hofmann; Joachim L Schultze; Ulrich Müller
Journal:  Hum Mol Genet       Date:  2012-11-25       Impact factor: 6.150
  5 in total
  6 in total

1.  First Report of a Filipino with Mohr-Tranebjaerg Syndrome.

Authors:  Johanna Melissa Penamora-Destriza; Aloysius Domingo; Thomas G P M Schmidt; Ana Westenberger; Christine Klein; Raymond Rosales
Journal:  Mov Disord Clin Pract       Date:  2015-08-26

2.  New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

Authors:  Aloysius Domingo; Ana Westenberger; Lillian V Lee; Ingrid Brænne; Tian Liu; Inga Vater; Raymond Rosales; Roland Dominic Jamora; Paul Matthew Pasco; Eva Maria Cutiongco-Dela Paz; Karen Freimann; Thomas Gpm Schmidt; Dirk Dressler; Frank J Kaiser; Lars Bertram; Jeanette Erdmann; Katja Lohmann; Christine Klein
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

Review 3.  Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).

Authors:  Toshitaka Kawarai; Ryoma Morigaki; Ryuji Kaji; Satoshi Goto
Journal:  Brain Sci       Date:  2017-06-26

Review 4.  The importance of genetic testing for dystonia patients and translational research.

Authors:  Jelena Pozojevic; Christian Beetz; Ana Westenberger
Journal:  J Neural Transm (Vienna)       Date:  2021-04-19       Impact factor: 3.575

5.  Brain Regional Differences in Hexanucleotide Repeat Length in X-Linked Dystonia-Parkinsonism Using Nanopore Sequencing.

Authors:  Charles Jourdan Reyes; Björn-Hergen Laabs; Susen Schaake; Theresa Lüth; Raphaela Ardicoglu; Aleksandar Rakovic; Karen Grütz; Daniel Alvarez-Fischer; Roland Dominic Jamora; Raymond L Rosales; Imke Weyers; Inke R König; Norbert Brüggemann; Christine Klein; Valerija Dobricic; Ana Westenberger; Joanne Trinh
Journal:  Neurol Genet       Date:  2021-07-06

6.  Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.

Authors:  Naoto Ito; William T Hendriks; Jyotsna Dhakal; Christine A Vaine; Christina Liu; David Shin; Kyle Shin; Noriko Wakabayashi-Ito; Marisela Dy; Trisha Multhaupt-Buell; Nutan Sharma; Xandra O Breakefield; D Cristopher Bragg
Journal:  Dis Model Mech       Date:  2016-01-14       Impact factor: 5.758
  6 in total

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