Literature DB >> 32042490

Intrafamilial heterogeneity in hereditary diffuse leukoencephalopathy with axonal spheroids.

Carolina Lopes1, Sara Duarte1, Ernestina Santos1, Carina Reis1, Madalena Pinto1.   

Abstract

Entities:  

Year:  2019        PMID: 32042490      PMCID: PMC6927449          DOI: 10.1212/CPJ.0000000000000647

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  4 in total

1.  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

Review 2.  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

3.  Hereditary diffuse leucoencephalopathy with spheroids.

Authors:  R Axelsson; M Röyttä; P Sourander; H O Akesson; O Andersen
Journal:  Acta Psychiatr Scand Suppl       Date:  1984

4.  Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Authors:  Rosa Rademakers; Matt Baker; Alexandra M Nicholson; Nicola J Rutherford; NiCole Finch; Alexandra Soto-Ortolaza; Jennifer Lash; Christian Wider; Aleksandra Wojtas; Mariely DeJesus-Hernandez; Jennifer Adamson; Naomi Kouri; Christina Sundal; Elizabeth A Shuster; Jan Aasly; James MacKenzie; Sigrun Roeber; Hans A Kretzschmar; Bradley F Boeve; David S Knopman; Ronald C Petersen; Nigel J Cairns; Bernardino Ghetti; Salvatore Spina; James Garbern; Alexandros C Tselis; Ryan Uitti; Pritam Das; Jay A Van Gerpen; James F Meschia; Shawn Levy; Daniel F Broderick; Neill Graff-Radford; Owen A Ross; Bradley B Miller; Russell H Swerdlow; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Nat Genet       Date:  2011-12-25       Impact factor: 38.330

  4 in total

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