Literature DB >> 15037720

Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene.

A Pizzuti1, G Fabbrini, L Salehi, L Vacca, M Inghilleri, B Dallapiccola, A Berardelli.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15037720     DOI： 10.1212/01.wnl.0000115174.96423.a8

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  6 in total

1.  Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.

Authors:  José Rafael Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José Hernández-Yago; Francisco Coria
Journal:  Neuromolecular Med       Date:  2007-08-03       Impact factor: 3.843

2.  Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.

Authors:  Hongyang Wang; Li Wang; Ju Yang; Linwei Yin; Lan Lan; Jin Li; Qiujing Zhang; Dayong Wang; Jing Guan; Qiuju Wang
Journal:  BMC Med Genet       Date:  2019-01-11       Impact factor: 2.103

3.  Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.

Authors:  Nanna Dahl Rendtorff; Helena Gásdal Karstensen; Marianne Lodahl; John Tolmie; Catherine McWilliam; Mads Bak; Niels Tommerup; Lusine Nazaryan-Petersen; Henricus Kunst; Melanie Wong; Shelagh Joss; Valerio Carelli; Lisbeth Tranebjærg
Journal:  Sci Rep       Date:  2022-09-02       Impact factor: 4.996

4.  Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes.

Authors:  Anna Szaflarska; Magdalena Rutkowska-Zapała; Anna Gruca; Katarzyna Szewczyk; Mirosław Bik-Multanowski; Marzena Lenart; Marta Surman; Ilona Kopyta; Ewa Głuszkiewicz; Magdalena Machnikowska-Sokołowska; Katarzyna Gruszczyńska; Anna Pituch-Noworolska; Maciej Siedlar
Journal:  Cent Eur J Immunol       Date:  2018-06-30       Impact factor: 2.085

5.  Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.

Authors:  Yu-Hsin Yeh; Meng-Ying Hsieh; Wen-I Lee; Jing-Long Huang; Li-Chen Chen; Kuo-Wei Yeh; Liang-Shiou Ou; Tsung-Chieh Yao; Chao-Yi Wu; Syh-Jae Lin
Journal:  Front Immunol       Date:  2020-09-04       Impact factor: 7.561

Review 6.  Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Authors:  Eduardo Ruiz-Pesini; Julio Montoya; David Pacheu-Grau
Journal:  Genes (Basel)       Date:  2021-07-01       Impact factor: 4.096
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.