Literature DB >> 29093066

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.

Jennifer Friedman1, Annette Feigenbaum2, Nathaniel Chuang2, Jennifer Silhavy2, Joseph G Gleeson2.   

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Year:  2017        PMID： 29093066      PMCID： PMC5705245          DOI： 10.1212/WNL.0000000000004689

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


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  7 in total

Review 1.  Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

Authors:  Claudia Castiglioni; Daniela Verrigni; Cecilia Okuma; Alejandra Diaz; Karin Alvarez; Teresa Rizza; Rosalba Carrozzo; Enrico Bertini; Marcelo Miranda
Journal:  Eur J Paediatr Neurol       Date:  2015-05-14       Impact factor: 3.140

2.  Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Authors:  Rosemary A Head; Ruth M Brown; Zarazuela Zolkipli; Raveen Shahdadpuri; Mary D King; Peter T Clayton; Garry K Brown
Journal:  Ann Neurol       Date:  2005-08       Impact factor: 10.422

3.  Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Authors:  B H Robinson; N MacKay; R Petrova-Benedict; I Ozalp; T Coskun; P W Stacpoole
Journal:  J Clin Invest       Date:  1990-06       Impact factor: 14.808

4.  Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

Authors:  Suzanne D DeBrosse; Kazuki Okajima; Shulin Zhang; Ghunwa Nakouzi; Christine L Schmotzer; Marilyn Lusk-Kopp; Mary Beth Frohnapfel; George Grahame; Douglas S Kerr
Journal:  Mol Genet Metab       Date:  2012-09-07       Impact factor: 4.797

5.  Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

Authors:  Catherine A McWilliam; Cheryl K Ridout; Ruth M Brown; Robert C McWilliam; John Tolmie; Garry K Brown
Journal:  Eur J Paediatr Neurol       Date:  2009-12-21       Impact factor: 3.140

6.  Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Authors:  Christine Barnerias; Jean-Marie Saudubray; Guy Touati; Pascale De Lonlay; Olivier Dulac; Gerard Ponsot; Cécile Marsac; Michèle Brivet; Isabelle Desguerre
Journal:  Dev Med Child Neurol       Date:  2009-12-01       Impact factor: 5.449

Review 7.  Paroxysmal movement disorders: An update.

Authors:  A Méneret; E Roze
Journal:  Rev Neurol (Paris)       Date:  2016-08-25       Impact factor: 2.607
  7 in total
  6 in total

Review 1.  Paroxysmal Movement Disorders: Recent Advances.

Authors:  Zheyu Xu; Che-Kang Lim; Louis C S Tan; Eng-King Tan
Journal:  Curr Neurol Neurosci Rep       Date:  2019-06-11       Impact factor: 5.081

Review 2.  Genetic updates on paroxysmal dyskinesias.

Authors:  James Y Liao; Philippe A Salles; Umar A Shuaib; Hubert H Fernandez
Journal:  J Neural Transm (Vienna)       Date:  2021-04-30       Impact factor: 3.575

Review 3.  Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

Authors:  Serena Galosi; Francesca Nardecchia; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2020-02-04

Review 4.  Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Authors:  Federica Rachele Danti; Federica Invernizzi; Isabella Moroni; Barbara Garavaglia; Nardo Nardocci; Giovanna Zorzi
Journal:  Front Neurol       Date:  2021-06-01       Impact factor: 4.003

Review 5.  Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Authors:  Giacomo Garone; Alessandro Capuano; Lorena Travaglini; Federica Graziola; Fabrizia Stregapede; Ginevra Zanni; Federico Vigevano; Enrico Bertini; Francesco Nicita
Journal:  Int J Mol Sci       Date:  2020-05-20       Impact factor: 5.923

Review 6.  Treatable Hyperkinetic Movement Disorders Not to Be Missed.

Authors:  Aurélie Méneret; Béatrice Garcin; Solène Frismand; Annie Lannuzel; Louise-Laure Mariani; Emmanuel Roze
Journal:  Front Neurol       Date:  2021-12-01       Impact factor: 4.003
  6 in total

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