Literature DB >> 28674165

Clinical Reasoning: A 58-year-old man with progressive ptosis and walking difficulty.

Pei-Hsin Kuo1, Raymond Y Lo1, Kurenai Tanji1, Sheng-Han Kuo2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28674165      PMCID： PMC5496515          DOI： 10.1212/WNL.0000000000004064

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


× No keyword cloud information.
  10 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

Review 2.  POLG-related disorders: defects of the nuclear and mitochondrial genome interaction.

Authors:  Margherita Milone; Eduardo E Benarroch; Lee-Jun Wong
Journal:  Neurology       Date:  2011-11-15       Impact factor: 9.910

Review 3.  The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Authors:  Bruce H Cohen; Robert K Naviaux
Journal:  Methods       Date:  2010-06-15       Impact factor: 3.608

4.  Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors:  G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

5.  The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.

Authors:  Maria A Graziewicz; Rachelle J Bienstock; William C Copeland
Journal:  Hum Mol Genet       Date:  2007-08-27       Impact factor: 6.150

6.  A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Authors:  Maya Tchikviladzé; Mylène Gilleron; Thierry Maisonobe; Damien Galanaud; Pascal Laforêt; Alexandra Durr; Bruno Eymard; Fanny Mochel; Hélène Ogier; Anthony Béhin; Tanya Stojkovic; Bertrand Degos; Isabelle Gourfinkel-An; Frederic Sedel; Mathieu Anheim; Alexis Elbaz; Karine Viala; Marie Vidailhet; Alexis Brice; Claude Jardel; Anne Lombès
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-08-11       Impact factor: 10.154

7.  Wernicke's encephalopathy: an underrecognized and reversible cause of confusional state in cancer patients.

Authors:  Sheng-Han Kuo; J Mathew Debnam; Gregory N Fuller; John de Groot
Journal:  Oncology       Date:  2008-11-19       Impact factor: 2.935

Review 8.  Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.

Authors:  G Lopez; K Bayulkem; M Hallett
Journal:  Acta Neurol Scand       Date:  2016-01-06       Impact factor: 3.209

9.  Molecular pathogenesis of polymerase γ-related neurodegeneration.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Jonathan Coxhead; Bjørn Bertelsen; Peer K Lilleng; Novin Balafkan; Brendan Payne; Hrvoje Miletic; Patrick F Chinnery; Laurence A Bindoff
Journal:  Ann Neurol       Date:  2014-06-14       Impact factor: 10.422

10.  Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

Authors:  Caterina Garone; Beatriz Garcia-Diaz; Valentina Emmanuele; Luis C Lopez; Saba Tadesse; Hasan O Akman; Kurenai Tanji; Catarina M Quinzii; Michio Hirano
Journal:  EMBO Mol Med       Date:  2014-08       Impact factor: 12.137
  10 in total
  2 in total

Review 1.  Ataxia.

Authors:  Sheng-Han Kuo
Journal:  Continuum (Minneap Minn)       Date:  2019-08

2.  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
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.