Literature DB >> 24750115

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.

Esther N Bit-Ivan1, Kyung-Hwa Lee, Darren Gitelman, Sandra Weintraub, Marsel Mesulam, Rosa Rademakers, Adrian M Isaacs, Kimmo J Hatanpaa, Charles L White, Qinwen Mao, Orhan Akman, Salvatore DiMauro, Eileen H Bigio.   

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Year:  2014        PMID： 24750115      PMCID： PMC4177303          DOI： 10.1111/nan.12144

Source DB:  PubMed          Journal:  Neuropathol Appl Neurobiol        ISSN： 0305-1846            Impact factor:   8.090


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  10 in total

1.  Coexisting adult polyglucosan body disease with frontotemporal lobar degeneration with transactivation response DNA-binding protein-43 (TDP-43)-positive neuronal inclusions.

Authors:  Jill G Farmer; Barbara J Crain; Brent T Harris; R Scott Turner
Journal:  Neurocase       Date:  2012-04-16       Impact factor: 0.881

2.  Adult polyglucosan body disease: a case report of a manifesting heterozygote.

Authors:  Eroboghene E Ubogu; Stacey Tay Kiat Hong; Hasan Orhan Akman; Salvatore Dimauro; Bashar Katirji; David C Preston; Barbara E Shapiro
Journal:  Muscle Nerve       Date:  2005-11       Impact factor: 3.217

3.  Distinct pathological subtypes of FTLD-FUS.

Authors:  Ian R A Mackenzie; David G Munoz; Hirofumi Kusaka; Osamu Yokota; Kenji Ishihara; Sigrun Roeber; Hans A Kretzschmar; Nigel J Cairns; Manuela Neumann
Journal:  Acta Neuropathol       Date:  2010-10-30       Impact factor: 17.088

4.  Presenile dementia with "Lafora-like" intraneuronal inclusions.

Authors:  K Suzuki; E David; B Kutschman
Journal:  Arch Neurol       Date:  1971-07

5.  Familial dementia due to adult polyglucosan body disease.

Authors:  E H Bigio; M F Weiner; F J Bonte; C L White
Journal:  Clin Neuropathol       Date:  1997 Jul-Aug       Impact factor: 1.368

6.  FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.

Authors:  Hazel Urwin; Keith A Josephs; Jonathan D Rohrer; Ian R Mackenzie; Manuela Neumann; Astrid Authier; Harro Seelaar; John C Van Swieten; Jeremy M Brown; Peter Johannsen; Jorgen E Nielsen; Ida E Holm; Dennis W Dickson; Rosa Rademakers; Neill R Graff-Radford; Joseph E Parisi; Ronald C Petersen; Kimmo J Hatanpaa; Charles L White; Myron F Weiner; Felix Geser; Vivianna M Van Deerlin; John Q Trojanowski; Bruce L Miller; William W Seeley; Julie van der Zee; Samir Kumar-Singh; Sebastiaan Engelborghs; Peter P De Deyn; Christine Van Broeckhoven; Eileen H Bigio; Han-Xiang Deng; Glenda M Halliday; Jillian J Kril; David G Munoz; David M Mann; Stuart M Pickering-Brown; Valerie Doodeman; Gary Adamson; Shabnam Ghazi-Noori; Elizabeth M C Fisher; Janice L Holton; Tamas Revesz; Martin N Rossor; John Collinge; Simon Mead; Adrian M Isaacs
Journal:  Acta Neuropathol       Date:  2010-05-20       Impact factor: 17.088

7.  Dementia of frontal lobe type due to adult polyglucosan body disease.

Authors:  P Boulan-Predseil; A Vital; B Brochet; D Darriet; P Henry; C Vital
Journal:  J Neurol       Date:  1995-08       Impact factor: 4.849

8.  The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.

Authors:  Abrar Hussain; Joy Armistead; Lara Gushulak; Christa Kruck; Steven Pind; Barbara Triggs-Raine; Marvin R Natowicz
Journal:  Biochem Biophys Res Commun       Date:  2012-08-25       Impact factor: 3.575

9.  Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update.

Authors:  Ian R A Mackenzie; Manuela Neumann; Eileen H Bigio; Nigel J Cairns; Irina Alafuzoff; Jillian Kril; Gabor G Kovacs; Bernardino Ghetti; Glenda Halliday; Ida E Holm; Paul G Ince; Wouter Kamphorst; Tamas Revesz; Annemieke J M Rozemuller; Samir Kumar-Singh; Haruhiko Akiyama; Atik Baborie; Salvatore Spina; Dennis W Dickson; John Q Trojanowski; David M A Mann
Journal:  Acta Neuropathol       Date:  2009-11-19       Impact factor: 17.088

10.  Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease.

Authors:  Linda Dainese; Marie-Lorraine Monin; Sophie Demeret; Guy Brochier; Roseline Froissart; Anne Spraul; Raphael Schiffmann; Danielle Seilhean; Fanny Mochel
Journal:  Gene       Date:  2012-12-21       Impact factor: 3.688
  10 in total
  3 in total

Review 1.  Frontotemporal dementia: a bridge between dementia and neuromuscular disease.

Authors:  Adeline S L Ng; Rosa Rademakers; Bruce L Miller
Journal:  Ann N Y Acad Sci       Date:  2014-12-30       Impact factor: 5.691

2.  A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Authors:  H Orhan Akman; Valentina Emmanuele; Yasemin Gülcan Kurt; Bülent Kurt; Tatiana Sheiko; Salvatore DiMauro; William J Craigen
Journal:  Hum Mol Genet       Date:  2015-09-18       Impact factor: 6.150

Review 3.  Characterization of cognitive impairment in adult polyglucosan body disease.

Authors:  Paul Theo Zebhauser; Isabell Cordts; Holger Hengel; Bernhard Haslinger; Paul Lingor; Hasan Orhan Akman; Tobias B Haack; Marcus Deschauer
Journal:  J Neurol       Date:  2022-01-08       Impact factor: 6.682
  3 in total

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