Literature DB >> 15146023

Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease.

Y Hellenbroich, W Schulz-Schaeffer, M F Nitschke, J Köhnke, G Händler, K Bürk, E Schwinger, C Zühlke.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 15146023      PMCID： PMC1739067          DOI： 10.1136/jnnp.2003.028381

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


× No keyword cloud information.
  7 in total

1.  Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.

Authors:  Zuzana Musova; Zdenek Sedlacek; Radim Mazanec; Jiri Klempir; Jan Roth; Pavlina Plevova; Martin Vyhnalek; Marta Kopeckova; Ludmila Apltova; Anna Krepelova; Alena Zumrova
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

2.  Abnormal DaTSCAN and Atypical Parkinsonism in SCA12.

Authors:  Anna Latorre; Claudia Del Gamba; Elisa Menozzi; Bettina Balint; Florian Brugger; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2019-03-28

3.  Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.

Authors:  Renu Kumari; Deepak Kumar; Samir K Brahmachari; Achal K Srivastava; Mohammed Faruq; Mitali Mukerji
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

4.  Deep-coverage rhesus red blood cell proteome: a first comparison with the human and mouse red blood cell.

Authors:  Erica M Pasini; Morten Kirkegaard; Peter Mortensen; Matthias Mann; Alan W Thomas
Journal:  Blood Transfus       Date:  2010-06       Impact factor: 3.443

5.  Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Authors:  Valakunja Harikrishna Ganaraja; Vikram V Holla; Albert Stezin; Nitish Kamble; Ravi Yadav; Meera Purushottam; Sanjeev Jain; Pramod Kumar Pal
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-21

6.  Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease.

Authors:  Natsumi Saito; Tomohiko Ishihara; Kensaku Kasuga; Mana Nishida; Takanobu Ishiguro; Hiroaki Nozaki; Takayoshi Shimohata; Osamu Onodera; Masatoyo Nishizawa
Journal:  Prion       Date:  2018-03-09       Impact factor: 3.931

7.  Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India.

Authors:  Supriyo Choudhury; Sayan Chatterjee; Koustav Chatterjee; Rebecca Banerjee; Jonathan Humby; Banashree Mondal; Sidharth S Anand; Shantanu Shubham; Hrishikesh Kumar
Journal:  Mov Disord Clin Pract       Date:  2017-11-01
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.