Literature DB >> 25825781

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Charalampos Tzoulis1, Tetyana Zayats2, Per Morten Knappskog3, Bernd Müller1, Jan Petter Larsen4, Ole-Bjørn Tysnes1, Laurence A Bindoff1, Stefan Johansson3, Kristoffer Haugarvoll5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2015        PMID： 25825781      PMCID： PMC4426452          DOI： 10.1073/pnas.1503105112

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


× No keyword cloud information.
  5 in total

1.  Genetic variation of Omi/HtrA2 and Parkinson's disease.

Authors:  Owen A Ross; Alexandra I Soto; Carles Vilariño-Güell; Michael G Heckman; Nancy N Diehl; Mary M Hulihan; Jan O Aasly; Sigrid Sando; J Mark Gibson; Timothy Lynch; Anna Krygowska-Wajs; Grzegorz Opala; Maria Barcikowska; Krzysztof Czyzewski; Ryan J Uitti; Zbigniew K Wszolek; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2008-09-14       Impact factor: 4.891

2.  Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Authors:  Javier Simón-Sánchez; Andrew B Singleton
Journal:  Hum Mol Genet       Date:  2008-03-25       Impact factor: 6.150

3.  Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.

Authors:  Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K Lee; Okan Dogu; Tulay Kansu; Haluk Topaloglu; Bulent Elibol; Cenk Akbostanci; Mary-Claire King; Tayfun Ozcelik; Ayse B Tekinay
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-24       Impact factor: 11.205

4.  Incidence of Parkinson's disease in Norway: the Norwegian ParkWest study.

Authors:  G Alves; B Müller; K Herlofson; I HogenEsch; W Telstad; D Aarsland; O-B Tysnes; J P Larsen
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-02-25       Impact factor: 10.154

5.  Tremulous cervical dystonia is likely to be familial: clinical characteristics of a large cohort.

Authors:  I Rubio-Agusti; I Pareés; M Kojovic; M Stamelou; T A Saifee; G Charlesworth; U M Sheerin; M J Edwards; K P Bhatia
Journal:  Parkinsonism Relat Disord       Date:  2013-03-21       Impact factor: 4.891
  5 in total
  6 in total

1.  Reply to Tzoulis et al.: Genetic and clinical heterogeneity of essential tremor.

Authors:  Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K Lee; Okan Dogu; Tulay Kansu; Haluk Topaloglu; Bulent Elibol; Cenk Akbostanci; Mary-Claire King; Tayfun Ozcelik; Ayse B Tekinay
Journal:  Proc Natl Acad Sci U S A       Date:  2015-03-30       Impact factor: 11.205

Review 2.  Essential tremor: New advances.

Authors:  María Carolina Sepúlveda Soto; Alfonso Fasano
Journal:  Clin Park Relat Disord       Date:  2019-12-31

3.  A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

Authors:  Mathilde Renaud; Christophe Marcel; Gabrielle Rudolf; Mickaël Schaeffer; Ouhaïd Lagha-Boukbiza; Jean-Baptiste Chanson; Jamel Chelly; Mathieu Anheim; Christine Tranchant
Journal:  BMC Neurol       Date:  2016-11-23       Impact factor: 2.474

4.  Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

Authors:  Ya-Chao He; Pei Huang; Qiong-Qiong Li; Qian Sun; Dun-Hui Li; Tian Wang; Jun-Yi Shen; Juan-Juan Du; Shi-Shuang Cui; Chao Gao; Rao Fu; Sheng-Di Chen
Journal:  Parkinsons Dis       Date:  2017-01-24

Review 5.  Genomic Markers for Essential Tremor.

Authors:  Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez
Journal:  Pharmaceuticals (Basel)       Date:  2021-05-27

6.  Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

Authors:  Monika Oláhová; Kyle Thompson; Steven A Hardy; Inês A Barbosa; Arnaud Besse; Maria-Eleni Anagnostou; Kathryn White; Tracey Davey; Michael A Simpson; Michael Champion; Greg Enns; Susan Schelley; Robert N Lightowlers; Zofia M A Chrzanowska-Lightowlers; Robert McFarland; Charu Deshpande; Penelope E Bonnen; Robert W Taylor
Journal:  J Inherit Metab Dis       Date:  2016-09-30       Impact factor: 4.982
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.