Literature DB >> 35693647

Hereditary Diffuse Leukoencephalopathy with Spheroids: Diffusion Restriction on Magnetic Resonance Imaging and Novel Mutation in an Indian Patient.

Varun Manjunath1, Swaleha Nadaf1, Rahul T Chakor1, Vyankatesh Bolegave2.   

Abstract

Entities:  

Year:  2021        PMID: 35693647      PMCID: PMC9175393          DOI: 10.4103/aian.aian_401_21

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN: 0972-2327            Impact factor:   1.714


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  6 in total

1.  Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study.

Authors:  Farrah J Mateen; B Mark Keegan; Karl Krecke; Joseph E Parisi; Max R Trenerry; Sean J Pittock
Journal:  J Neurol Neurosurg Psychiatry       Date:  2010-02-22       Impact factor: 10.154

2.  Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.

Authors:  Michiaki Kinoshita; Kunihiro Yoshida; Kiyomitsu Oyanagi; Takao Hashimoto; Shu-ichi Ikeda
Journal:  J Neurol Sci       Date:  2012-04-14       Impact factor: 3.181

3.  MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

Authors:  Christina Sundal; Jay A Van Gerpen; Alexandra M Nicholson; Christian Wider; Elizabeth A Shuster; Jan Aasly; Salvatore Spina; Bernardino Ghetti; Sigrun Roeber; James Garbern; Anne Borjesson-Hanson; Alex Tselis; Russell H Swerdlow; Bradley B Miller; Shinsuke Fujioka; Michael G Heckman; Ryan J Uitti; Keith A Josephs; Matt Baker; Oluf Andersen; Rosa Rademakers; Dennis W Dickson; Daniel Broderick; Zbigniew K Wszolek
Journal:  Neurology       Date:  2012-07-25       Impact factor: 9.910

4.  Deep White Matter Lesions with Persistent Diffusion Restriction on MRI as a Diagnostic Clue: Neuroimaging of a Turkish Family with Hereditary Diffuse Leukoencephalopathy with Spheroids and Literature Review.

Authors:  Halil Onder; Kader Karli Oguz; Figen Soylemezoglu; Kubilay Varli
Journal:  Ann Indian Acad Neurol       Date:  2020-06-10       Impact factor: 1.383

Review 5.  Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era.

Authors:  David S Lynch; Charles Wade; Anderson Rodrigues Brandão de Paiva; Nevin John; Justin A Kinsella; Áine Merwick; Rebekah M Ahmed; Jason D Warren; Catherine J Mummery; Jonathan M Schott; Nick C Fox; Henry Houlden; Matthew E Adams; Indran Davagnanam; Elaine Murphy; Jeremy Chataway
Journal:  J Neurol Neurosurg Psychiatry       Date:  2018-11-22       Impact factor: 10.154

Review 6.  Diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids based on next-generation sequencing in a family: Case report and literature review.

Authors:  Tianji Shi; Jia Li; Cheng Tan; Jiajun Chen
Journal:  Medicine (Baltimore)       Date:  2019-05       Impact factor: 1.817

  6 in total

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