Literature DB >> 30341432

Leukodystrophies - much more than just diseases of myelin.

Marjo S van der Knaap1,2, Marianna Bugiani3.   

Abstract

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Mesh:

Year:  2018        PMID: 30341432     DOI: 10.1038/s41582-018-0093-9

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


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  3 in total

1.  De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.

Authors:  Korbinian M Riedhammer; Sylvia Stockler; Rafal Ploski; Maren Wenzel; Burkhard Adis-Dutschmann; Uwe Ahting; Bader Alhaddad; Astrid Blaschek; Tobias B Haack; Robert Kopajtich; Jessica Lee; Victor Murcia Pienkowski; Agnieszka Pollak; Krystyna Szymanska; Maja Tarailo-Graovac; Robin van der Lee; Clara D van Karnebeek; Thomas Meitinger; Ingeborg Krägeloh-Mann; Katharina Vill
Journal:  Brain       Date:  2021-03-03       Impact factor: 13.501

Review 2.  Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Authors:  Pieter Vancamp; Barbara A Demeneix; Sylvie Remaud
Journal:  Front Endocrinol (Lausanne)       Date:  2020-05-13       Impact factor: 5.555

Review 3.  The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia.

Authors:  Daniel W Sirkis; Luke W Bonham; Jennifer S Yokoyama
Journal:  Appl Clin Genet       Date:  2021-03-31
  3 in total

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