Literature DB >> 30363500

First Report of a Filipino with Mohr-Tranebjaerg Syndrome.

Johanna Melissa Penamora-Destriza1, Aloysius Domingo2,3, Thomas G P M Schmidt2, Ana Westenberger2, Christine Klein2, Raymond Rosales1,4.   

Abstract

Entities:  

Keywords:  combined dystonia; genetics

Year:  2015        PMID： 30363500      PMCID： PMC6178691          DOI： 10.1002/mdc3.12210

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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

Authors:  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
Journal:  Neurogenetics       Date:  2013-02-23       Impact factor: 2.660

Review 3.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

4.  The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.

Authors:  Ainhi D Ha; Kaitlyn L Parratt; Nanna D Rendtorff; Marianne Lodahl; Karl Ng; Dominic B Rowe; Carolyn M Sue; Michael W Hayes; Lisbeth Tranebjaerg; Victor S C Fung
Journal:  Mov Disord       Date:  2012-06-26       Impact factor: 10.338

5.  Human deafness dystonia syndrome is a mitochondrial disease.

Authors:  C M Koehler; D Leuenberger; S Merchant; A Renold; T Junne; G Schatz
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

6.  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
  6 in total
  2 in total

1.  Reduced mitochondrial size in hippocampus and psychiatric behavioral changes in the mutant mice with homologous mutation of Timm8a1-I23fs49X.

Authors:  Niemtiah Ouattara; Zirui Chen; Yihua Huang; Xia Chen; Pingping Song; Zhongju Xiao; Qi Li; Yuqing Guan; Ziang Li; Yawei Jiang; Kaibiao Xu; Suyue Pan; Yafang Hu
Journal:  Front Cell Neurosci       Date:  2022-08-25       Impact factor: 6.147

2.  Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.

Authors:  Addison Neighbors; Tonya Moss; Lynda Holloway; Seok-Ho Yu; Fran Annese; Steve Skinner; Russell Saneto; Richard Steet
Journal:  Mol Genet Genomic Med       Date:  2020-01-05       Impact factor: 2.183
  2 in total

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