Literature DB >> 22291068

Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.

P Dill1, M Wagner, A Somerville, B Thöny, N Blau, P Weber.   

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Year:  2012        PMID: 22291068     DOI: 10.1212/WNL.0b013e3182452849

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


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  7 in total

1.  Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.

Authors:  Matthias Zielonka; Nawal Makhseed; Nenad Blau; Markus Bettendorf; Georg Friedrich Hoffmann; Thomas Opladen
Journal:  JIMD Rep       Date:  2015-05-26

Review 2.  Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Authors:  Joanne Ng; Apostolos Papandreou; Simon J Heales; Manju A Kurian
Journal:  Nat Rev Neurol       Date:  2015-09-22       Impact factor: 42.937

Review 3.  Dopa-responsive dystonia--clinical and genetic heterogeneity.

Authors:  Subhashie Wijemanne; Joseph Jankovic
Journal:  Nat Rev Neurol       Date:  2015-06-23       Impact factor: 42.937

Review 4.  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 5.  Nonmotor Symptoms in Dopa-Responsive Dystonia.

Authors:  Elena Antelmi; Maria Stamelou; Rocco Liguori; Kailash P Bhatia
Journal:  Mov Disord Clin Pract       Date:  2015-07-22

Review 6.  Clinical features and pharmacotherapy of childhood monoamine neurotransmitter disorders.

Authors:  J Ng; S J R Heales; M A Kurian
Journal:  Paediatr Drugs       Date:  2014-08       Impact factor: 3.022

7.  Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency.

Authors:  Guihua Jiang; Jiangbo Song; Hai Hu; Xiaoling Tong; Fangyin Dai
Journal:  R Soc Open Sci       Date:  2020-03-25       Impact factor: 2.963

  7 in total

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