Literature DB >> 25414037

PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.

Cyril Pottier1, Matt Baker2, Dennis W Dickson2, Rosa Rademakers2.   

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Year:  2014        PMID： 25414037      PMCID： PMC4614132          DOI： 10.1093/brain/awu332

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  8 in total

1.  Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease.

Authors:  Manuela Neumann; Sigrun Roeber; Hans A Kretzschmar; Rosa Rademakers; Matt Baker; Ian R A Mackenzie
Journal:  Acta Neuropathol       Date:  2009-08-09       Impact factor: 17.088

2.  Clinical and neuropathologic variation in neuronal intermediate filament inclusion disease.

Authors:  N J Cairns; M Grossman; S E Arnold; D J Burn; E Jaros; R H Perry; C Duyckaerts; B Stankoff; B Pillon; K Skullerud; F F Cruz-Sanchez; E H Bigio; I R A Mackenzie; M Gearing; J L Juncos; J D Glass; H Yokoo; Y Nakazato; S Mosaheb; J R Thorpe; K Uryu; V M-Y Lee; J Q Trojanowski
Journal:  Neurology       Date:  2004-10-26       Impact factor: 9.910

3.  Clustering of neuronal inclusions in "dementia with neurofilament inclusions".

Authors:  N J Cairns; R A Armstrong
Journal:  Acta Neuropathol       Date:  2003-05-06       Impact factor: 17.088

4.  Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: additional evidence for overlap between FTD and ALS.

Authors:  E H Bigio; A M Lipton; C L White; D W Dickson; A Hirano
Journal:  Neuropathol Appl Neurobiol       Date:  2003-06       Impact factor: 8.090

5.  Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions.

Authors:  Nigel J Cairns; Robert H Perry; Evelyn Jaros; David Burn; Ian G McKeith; James S Lowe; Janice Holton; Martin N Rossor; Kari Skullerud; Charles Duyckaerts; Felix F Cruz-Sanchez; Peter L Lantos
Journal:  Neurosci Lett       Date:  2003-05-08       Impact factor: 3.046

6.  PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Authors:  Tsz Hang Wong; Wang Zheng Chiu; Guido J Breedveld; Ka Wan Li; Annemieke J M H Verkerk; David Hondius; Renate K Hukema; Harro Seelaar; Petra Frick; Lies-Anne Severijnen; Gert-Jan Lammers; Joyce H G Lebbink; Sjoerd G van Duinen; Wouter Kamphorst; Annemieke J Rozemuller; E Bert Bakker; Manuela Neumann; Rob Willemsen; Vincenzo Bonifati; August B Smit; John van Swieten
Journal:  Brain       Date:  2014-04-09       Impact factor: 13.501

7.  alpha-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease.

Authors:  Nigel J Cairns; Victoria Zhukareva; Kunihiro Uryu; Bin Zhang; Eileen Bigio; Ian R A Mackenzie; Marla Gearing; Charles Duyckaerts; Hideaki Yokoo; Yoichi Nakazato; Evelyn Jaros; Robert H Perry; Virginia M-Y Lee; John Q Trojanowski
Journal:  Am J Pathol       Date:  2004-06       Impact factor: 4.307

8.  Neurofilament inclusion body disease: a new proteinopathy?

Authors:  Keith A Josephs; Janice L Holton; Martin N Rossor; Hans Braendgaard; Tetsutaro Ozawa; Nick C Fox; Ronald C Petersen; Gary S Pearl; Milan Ganguly; Pedro Rosa; Henning Laursen; Joseph E Parisi; Gunhild Waldemar; Niall P Quinn; Dennis W Dickson; Tamas Revesz
Journal:  Brain       Date:  2003-07-22       Impact factor: 13.501
  8 in total
  3 in total

1.  Reply: PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease.

Authors:  Tsz Hang Wong; Annemieke J M H Verkerk; Annemieke J Rozemuller; Rob Willemsen; Manuela Neumann; Vincenzo Bonifati; John van Swieten
Journal:  Brain       Date:  2014-11-19       Impact factor: 13.501

2.  Folic acid intervention during pregnancy alters DNA methylation, affecting neural target genes through two distinct mechanisms.

Authors:  Miroslava Ondičová; Rachelle E Irwin; Sara-Jayne Thursby; Luke Hilman; Aoife Caffrey; Tony Cassidy; Marian McLaughlin; Diane J Lees-Murdock; Mary Ward; Michelle Murphy; Yvonne Lamers; Kristina Pentieva; Helene McNulty; Colum P Walsh
Journal:  Clin Epigenetics       Date:  2022-05-16       Impact factor: 7.259

3.  Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.

Authors:  Felix Marbach; Georgi Stoyanov; Florian Erger; Constantine A Stratakis; Nikolaos Settas; Edra London; Jill A Rosenfeld; Erin Torti; Chad Haldeman-Englert; Evgenia Sklirou; Elena Kessler; Sophia Ceulemans; Stanley F Nelson; Julian A Martinez-Agosto; Christina G S Palmer; Rebecca H Signer; Marisa V Andrews; Dorothy K Grange; Rebecca Willaert; Richard Person; Aida Telegrafi; Aaron Sievers; Magdalena Laugsch; Susanne Theiß; YuZhu Cheng; Olivier Lichtarge; Panagiotis Katsonis; Amber Stocco; Christian P Schaaf
Journal:  Genet Med       Date:  2021-04-08       Impact factor: 8.822
  3 in total

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