Literature DB >> 30617166

Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.

Hugo Morales-Briceño1, Florence C F Chang1, Chong Wong1, Amali Mallawaarachchi1, Nigel Wolfe1, Renata Pellegrino da Silva1, Hakon Hakonarson1, Sarah Annabella Sandaradura1, Yiran Guo1, John Christodoulou1, Jim Lagopoulos1, Padraic Grattan-Smith1, Victor S C Fung2.   

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Year:  2019        PMID： 30617166      PMCID： PMC6340345          DOI： 10.1212/WNL.0000000000006744

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


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  7 in total

1.  Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

Authors:  V Leuzzi; M L Di Sabato; F Deodato; C Rizzo; S Boenzi; C Carducci; P Malaspina; C Liberanome; C Dionisi-Vici
Journal:  Neurology       Date:  2007-04-17       Impact factor: 9.910

Review 2.  Phenotype of GABA-transaminase deficiency.

Authors:  Mary Kay Koenig; Ryan Hodgeman; James J Riviello; Wendy Chung; Jennifer Bain; Claudia A Chiriboga; Kazushi Ichikawa; Hitoshi Osaka; Megumi Tsuji; K Michael Gibson; Penelope E Bonnen; Phillip L Pearl
Journal:  Neurology       Date:  2017-04-14       Impact factor: 9.910

3.  Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment.

Authors:  Mary Kay Koenig; Penelope E Bonnen
Journal:  JIMD Rep       Date:  2018-02-27

4.  Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.

Authors:  Kazushi Ichikawa; Megumi Tsuji; Yu Tsuyusaki; Moyoko Tomiyasu; Noriko Aida; Tomohide Goto
Journal:  JIMD Rep       Date:  2018-02-25

5.  Are vigabatrin induced T2 hyperintensities in cranial MRI associated with acute encephalopathy and extrapyramidal symptoms?

Authors:  Patricia Dill; Alexandre N Datta; Peter Weber; Jacques Schneider
Journal:  Eur J Paediatr Neurol       Date:  2012-11-27       Impact factor: 3.140

6.  The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Authors:  Arnaud Besse; Ping Wu; Francesco Bruni; Taraka Donti; Brett H Graham; William J Craigen; Robert McFarland; Paolo Moretti; Seema Lalani; Kenneth L Scott; Robert W Taylor; Penelope E Bonnen
Journal:  Cell Metab       Date:  2015-03-03       Impact factor: 27.287

7.  A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.

Authors:  Megumi Tsuji; Noriko Aida; Takayuki Obata; Moyoko Tomiyasu; Noritaka Furuya; Kenji Kurosawa; Abdellatif Errami; K Michael Gibson; Gajja S Salomons; Cornelis Jakobs; Hitoshi Osaka
Journal:  J Inherit Metab Dis       Date:  2010-01-06       Impact factor: 4.982
  7 in total
  4 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.  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 4.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003
  4 in total

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