Literature DB >> 27349602

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Shyamal H Mehta1, Dennis W Dickson2, John C Morgan3, Andrew B Singleton4, Elisa Majounie4, Kapil D Sethi3.   

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Year:  2016        PMID： 27349602      PMCID： PMC5995126          DOI： 10.1016/j.parkreldis.2016.06.013

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  5 in total

1.  Early-onset familial parkinsonism due to POLG mutations.

Authors:  Guido Davidzon; Paul Greene; Michelangelo Mancuso; Kevin J Klos; J Eric Ahlskog; Michio Hirano; Salvatore DiMauro
Journal:  Ann Neurol       Date:  2006-05       Impact factor: 10.422

2.  Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Authors:  Petri Luoma; Atle Melberg; Juha O Rinne; Jyrki A Kaukonen; Nina N Nupponen; Richard M Chalmers; Anders Oldfors; Ilkka Rautakorpi; Leena Peltonen; Kari Majamaa; Hannu Somer; Anu Suomalainen
Journal:  Lancet       Date:  2004 Sep 4-10       Impact factor: 79.321

3.  Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.

Authors:  Barton R Brandon; Nico J Diederich; Madhu Soni; Katrin Witte; Manja Weinhold; Micaela Krause; Sandra Jackson
Journal:  J Neurol       Date:  2013-05-30       Impact factor: 4.849

4.  Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Thomas Schwarzlmüller; Karsten Specht; Kristoffer Haugarvoll; Novin Balafkan; Peer K Lilleng; Hrvoje Miletic; Martin Biermann; Laurence A Bindoff
Journal:  Brain       Date:  2013-04-26       Impact factor: 13.501

5.  An autopsy case of dementia and parkinsonism with severe degeneration exclusively in the substantia nigra.

Authors:  K Oyanagi; S Nakashima; F Ikuta; Y Homma
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088
  5 in total
  5 in total

Review 1.  Neuropathology of Parkinson disease.

Authors:  Dennis W Dickson
Journal:  Parkinsonism Relat Disord       Date:  2017-08-01       Impact factor: 4.891

2.  POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Authors:  Pei-Chen Hsieh; Chun-Chieh Wang; Chia-Lung Tsai; Yuan-Ming Yeh; Yun Shien Lee; Yih-Ru Wu
Journal:  Brain Behav       Date:  2019-04-02       Impact factor: 2.708

3.  Cellular alterations identified in pluripotent stem cell-derived midbrain spheroids generated from a female patient with progressive external ophthalmoplegia and parkinsonism who carries a novel variation (p.Q811R) in the POLG1 gene.

Authors:  Margarita Chumarina; Kaspar Russ; Carla Azevedo; Andreas Heuer; Maria Pihl; Anna Collin; Eleonor Åsander Frostner; Eskil Elmer; Poul Hyttel; Graziella Cappelletti; Michela Zini; Stefano Goldwurm; Laurent Roybon
Journal:  Acta Neuropathol Commun       Date:  2019-12-16       Impact factor: 7.801

Review 4.  Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.

Authors:  Nitya Subrahmanian; Matthew J LaVoie
Journal:  Brain Res       Date:  2021-03-19       Impact factor: 3.610

5.  A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

Authors:  Pretty Sara Idiculla; Syed Taimour Hussain; Junaid Habib Siddiqui
Journal:  J Clin Transl Res       Date:  2021-05-14
  5 in total

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