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Literature DB >> 18519876

Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.

C Kamm¹, H Fischer, B Garavaglia, S Kullmann, M Sharma, C Schrader, K Grundmann, C Klein, I Borggraefe, E Lobsien, A Kupsch, N Nardocci, T Gasser.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2008 PMID： 18519876 DOI： 10.1212/01.wnl.0000313838.05734.8a

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

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14 in total

Review 1. Genetics of primary torsion dystonia.

Authors: Norbert Brüggemann; Christine Klein
Journal: Curr Neurol Neurosci Rep Date: 2010-05 Impact factor: 5.081

2. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Authors: Nutan Sharma; Ramon A Franco; John K Kuster; Adele A Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F Brin; Andrew Blitzer; Susan B Bressman; Laurie J Ozelius
Journal: Mov Disord Date: 2010-10-15 Impact factor: 10.338

3. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

Authors: Jasmin Hettich; Scott D Ryan; Osmar Norberto de Souza; Luís Fernando Saraiva Macedo Timmers; Shelun Tsai; Nadia A Atai; Cintia C da Hora; Xuan Zhang; Rashmi Kothary; Erik Snapp; Maria Ericsson; Kathrin Grundmann; Xandra O Breakefield; Flávia C Nery
Journal: Hum Mutat Date: 2014-07-17 Impact factor: 4.878

4. Advances in the genetics of primary torsion dystonia.

Authors: Enza Maria Valente; Alberto Albanese
Journal: F1000 Biol Rep Date: 2010-06-16

5. The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.

Authors: Lucía F Zacchi; Hui-Chuan Wu; Samantha L Bell; Linda Millen; Adrienne W Paton; James C Paton; Philip J Thomas; Michal Zolkiewski; Jeffrey L Brodsky
Journal: J Biol Chem Date: 2014-03-13 Impact factor: 5.157

10. Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.

Authors: Feng Zhu; Fengxiao Zhang; Lizhi Hu; Haowen Liu; Yahua Li
Journal: Front Genet Date: 2021-07-02 Impact factor: 4.599

Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.

Review 1. Genetics of primary torsion dystonia.

2. Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

3. Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1A.

4. Advances in the genetics of primary torsion dystonia.

5. The BiP molecular chaperone plays multiple roles during the biogenesis of torsinA, an AAA+ ATPase associated with the neurological disease early-onset torsion dystonia.

6. Genetic issues in the diagnosis of dystonias.

7. Invertebrate models of dystonia.

Review 8. The genetics of dystonia: new twists in an old tale.

9. Phenotypic overlap in familial and sporadic primary adult-onset extracranial dystonia.

10. Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.