Literature DB >> 27775760

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems.

Alastair J C Hughes1, Hannah E Steele2, Angela Pyle1, Yvonne Hart3, Richard Quinton4, Patrick F Chinnery5.   

Abstract

Entities:  

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Year:  2016        PMID： 27775760      PMCID： PMC6551223          DOI： 10.1001/jamaneurol.2016.3613

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  3 in total

1.  Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Authors:  Nicole I Wolf; Adeline Vanderver; Rosalina M L van Spaendonk; Raphael Schiffmann; Bernard Brais; Marianna Bugiani; Erik Sistermans; Coriene Catsman-Berrevoets; Johan M Kros; Pedro Soares Pinto; Daniela Pohl; Sandya Tirupathi; Petter Strømme; Ton de Grauw; Sébastien Fribourg; Michelle Demos; Amy Pizzino; Sakkubai Naidu; Kether Guerrero; Marjo S van der Knaap; Geneviève Bernard
Journal:  Neurology       Date:  2014-10-22       Impact factor: 9.910

2.  Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

Authors:  Hussein Daoud; Martine Tétreault; William Gibson; Kether Guerrero; Ana Cohen; Janina Gburek-Augustat; Matthis Synofzik; Bernard Brais; Cathy A Stevens; Rocio Sanchez-Carpintero; Cyril Goizet; Sakkubai Naidu; Adeline Vanderver; Geneviève Bernard
Journal:  J Med Genet       Date:  2013-01-25       Impact factor: 6.318

3.  Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Authors:  Emma Billington; Geneviève Bernard; William Gibson; Bernard Corenblum
Journal:  Case Rep Endocrinol       Date:  2015-05-31
  3 in total
  1 in total

1.  Clinical and imaging characteristics of 4H syndrome: A case report.

Authors:  Chao Wang; Shan Wang; Huanhuan Xie; Siyu Yang
Journal:  CNS Neurosci Ther       Date:  2021-12-24       Impact factor: 5.243
  1 in total

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