Literature DB >> 22580846

POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study.

Matthis Synofzik, Julia Schicks, Karin Srulijes, Claudia Schulte, Franziska Schiele, Daniela Berg, Ludger Schöls.   

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Year:  2012        PMID： 22580846     DOI： 10.1007/s00415-012-6535-1

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  15 in total

1.  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

2.  Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism.

Authors:  Matthis Synofzik; Friedrich Asmus; Matthias Reimold; Ludger Schöls; Daniela Berg
Journal:  Mov Disord       Date:  2010-01-30       Impact factor: 10.338

3.  POLG1 polyglutamine tract variants associated with Parkinson's disease.

Authors:  Johanna Eerola; Petri T Luoma; Terhi Peuralinna; Sonja Scholz; Coro Paisan-Ruiz; Anu Suomalainen; Andrew B Singleton; Pentti J Tienari
Journal:  Neurosci Lett       Date:  2010-04-24       Impact factor: 3.046

Review 4.  Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop.

Authors:  I Litvan; Y Agid; D Calne; G Campbell; B Dubois; R C Duvoisin; C G Goetz; L I Golbe; J Grafman; J H Growdon; M Hallett; J Jankovic; N P Quinn; E Tolosa; D S Zee
Journal:  Neurology       Date:  1996-07       Impact factor: 9.910

5.  A clinical rating scale for progressive supranuclear palsy.

Authors:  Lawrence I Golbe; Pamela A Ohman-Strickland
Journal:  Brain       Date:  2007-04-02       Impact factor: 13.501

6.  Mitochondrial dysfunction in cybrid lines expressing mitochondrial genes from patients with progressive supranuclear palsy.

Authors:  R H Swerdlow; L I Golbe; J K Parks; D S Cassarino; D R Binder; A E Grawey; I Litvan; J P Bennett; G F Wooten; W D Parker
Journal:  J Neurochem       Date:  2000-10       Impact factor: 5.372

7.  Atypical parkinsonism in Guadeloupe: a common risk factor for two closely related phenotypes?

Authors:  Annie Lannuzel; G U Höglinger; S Verhaeghe; L Gire; S Belson; M Escobar-Khondiker; P Poullain; W H Oertel; E C Hirsch; B Dubois; M Ruberg
Journal:  Brain       Date:  2007-02-15       Impact factor: 13.501

8.  Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Authors:  Federica Invernizzi; Sara Varanese; Astrid Thomas; Franco Carrara; Marco Onofrj; Massimo Zeviani
Journal:  Neuromuscul Disord       Date:  2008-05-27       Impact factor: 4.296

9.  Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Authors:  Robert H Baloh; Ezequiel Salavaggione; Jeffrey Milbrandt; Alan Pestronk
Journal:  Arch Neurol       Date:  2007-07

Review 10.  POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Authors:  Daniele Orsucci; Elena Caldarazzo Ienco; Michelangelo Mancuso; Gabriele Siciliano
Journal:  J Mol Neurosci       Date:  2011-01-08       Impact factor: 3.444
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