Literature DB >> 26476772

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement.

Peter Körtvelyessy1, Ingeborg Krägeloh-Mann2, Christian Mawrin3, Hans-Jochen Heinze4, Daniel Bittner5, Ilse Wieland6, Martin Zenker6, Peter Nestor7.   

Abstract

Entities:  

Keywords:  HDLS; Hereditary leukoencephalopathy with spheroids; Histopathology HDLS; Myelopathy

Mesh：

Substances：

Year:  2015        PMID： 26476772     DOI： 10.1016/j.jns.2015.09.370

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


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  5 in total

Review 1.  Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Authors:  Carmen Stabile; Ilaria Taglia; Carla Battisti; Silvia Bianchi; Antonio Federico
Journal:  Neurol Sci       Date:  2016-06-23       Impact factor: 3.307

2.  MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.

Authors:  Takashi Abe; Toshitaka Kawarai; Koji Fujita; Wataru Sako; Yuka Terasawa; Tsuyoshi Matsuda; Waka Sakai; Ai Tsukamoto-Miyashiro; Naoko Matsui; Yuishin Izumi; Ryuji Kaji; Masafumi Harada
Journal:  Magn Reson Med Sci       Date:  2016-12-26       Impact factor: 2.471

3.  Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids.

Authors:  Torsten Kraya; Dagmar Quandt; Thorsten Pfirrmann; Andrea Kindermann; Leonie Lampe; Matthias L Schroeter; Jürgen Kohlhase; Dietrich Stoevesandt; Katrin Hoffmann; Pablo Villavicencio-Lorini
Journal:  Mol Genet Genomic Med       Date:  2019-02-06       Impact factor: 2.183

Review 4.  Modeling CSF-1 receptor deficiency diseases - how close are we?

Authors:  Violeta Chitu; Şölen Gökhan; E Richard Stanley
Journal:  FEBS J       Date:  2021-07-05       Impact factor: 5.622

5.  Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Authors:  T Konno; K Yoshida; T Mizuno; T Kawarai; M Tada; H Nozaki; S-I Ikeda; M Nishizawa; O Onodera; Z K Wszolek; T Ikeuchi
Journal:  Eur J Neurol       Date:  2016-09-29       Impact factor: 6.089
  5 in total

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