Literature DB >> 28566178

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia.

Malco Rossi1, Alex Medina Escobar1, Lucia Ameghino1, Marcelo Merello2.   

Abstract

Entities:  

Keywords:  Ataxia; Cervical dystonia; Congenital disorder glycosylation; Jaeken syndrome

Mesh：

Substances：

Year:  2017        PMID： 28566178     DOI： 10.1016/j.jns.2017.04.037

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  6 in total

1.  Dystonia Due to GM3 Synthase Deficiency.

Authors:  Alexander S Wang; Camilla Kilbane
Journal:  Mov Disord Clin Pract       Date:  2022-01-05

2.  Predictive factors of outcome in cervical dystonia following deep brain stimulation: an individual patient data meta-analysis.

Authors:  Xing Hua; Bohan Zhang; Zhicheng Zheng; Houyou Fan; Linfeng Luo; Xiaosi Chen; Jian Duan; Dongwei Zhou; Meihua Li; Tao Hong; Guohui Lu
Journal:  J Neurol       Date:  2020-03-05       Impact factor: 4.849

3.  Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.

Authors:  Guillaume Dorval; Cécile Jeanpierre; Vincent Morinière; Carole Tournant; Bettina Bessières; Tania Attié-Bittach; Jeanne Amiel; Emmanuel Spaggari; Yves Ville; Elodie Merieau; Marie-Claire Gubler; Sophie Saunier; Laurence Heidet
Journal:  Pediatr Nephrol       Date:  2021-02-13       Impact factor: 3.714

Review 4.  Congenital Disorders of Glycosylation from a Neurological Perspective.

Authors:  Justyna Paprocka; Aleksandra Jezela-Stanek; Anna Tylki-Szymańska; Stephanie Grunewald
Journal:  Brain Sci       Date:  2021-01-11

5.  Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.

Authors:  Patricio Millar Vernetti; María Agustina Ruiz Yanzi; Malco Rossi; Marcelo Merello
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-04-20

Review 6.  Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options.

Authors:  Malco Rossi; Bettina Balint; Patricio Millar Vernetti; Kailash P Bhatia; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2018-07-03
  6 in total

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