Literature DB >> 5457846

Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome.

E Strömgren, A Dalby, M A Dalby, B Ranheim.   

Abstract

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Year:  1970        PMID: 5457846     DOI: 10.1111/j.1600-0404.1970.tb02219.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


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  11 in total

Review 1.  Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Authors:  J H Begeer; F A Scholte; A J van Essen
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

2.  BRI2 homodimerizes with the involvement of intermolecular disulfide bonds.

Authors:  Maria Tsachaki; Jorge Ghiso; Agueda Rostagno; Spiros Efthimiopoulos
Journal:  Neurobiol Aging       Date:  2008-04-28       Impact factor: 4.673

3.  Ocular changes in heredo-oto-ophthalmo-encephalopathy.

Authors:  T Bek
Journal:  Br J Ophthalmol       Date:  2000-11       Impact factor: 4.638

4.  Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease.

Authors:  T Lashley; T Revesz; G Plant; R Bandopadhyay; A J Lees; B Frangione; N W Wood; R de Silva; J Ghiso; A Rostagno; J L Holton
Journal:  Neuropathol Appl Neurobiol       Date:  2008-02-13       Impact factor: 8.090

5.  Interaction of ApoE3 and ApoE4 isoforms with an ITM2b/BRI2 mutation linked to the Alzheimer disease-like Danish dementia: Effects on learning and memory.

Authors:  Fabrizio Biundo; Keita Ishiwari; Dolores Del Prete; Luciano D'Adamio
Journal:  Neurobiol Learn Mem       Date:  2015-10-31       Impact factor: 2.877

6.  Oxidative stress and mitochondria-mediated cell death mechanisms triggered by the familial Danish dementia ADan amyloid.

Authors:  Krysti Todd; Jorge Ghiso; Agueda Rostagno
Journal:  Neurobiol Dis       Date:  2015-10-13       Impact factor: 5.996

7.  Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice.

Authors:  Holly J Garringer; Jill Murrell; Neeraja Sammeta; Anita Gnezda; Bernardino Ghetti; Ruben Vidal
Journal:  PLoS One       Date:  2013-02-13       Impact factor: 3.240

8.  Concurrence of Danish dementia and cataract: insights from the interactions of dementia associated peptides with eye lens alpha-crystallin.

Authors:  Ira Surolia; Sharmistha Sinha; Debi Prasad Sarkar; P Yadagiri Reddy; G Bhanuprakash Reddy; Avadhesha Surolia
Journal:  PLoS One       Date:  2008-08-13       Impact factor: 3.240

9.  Cerebral amyloid angiopathy and parenchymal amyloid deposition in transgenic mice expressing the Danish mutant form of human BRI2.

Authors:  Ruben Vidal; Ana G Barbeito; Leticia Miravalle; Bernardino Ghetti
Journal:  Brain Pathol       Date:  2008-04-10       Impact factor: 6.508

10.  Lessons from a Rare Familial Dementia: Amyloid and Beyond.

Authors:  Adam Cantlon; Carlo Sala Frigerio; Dominic M Walsh
Journal:  J Parkinsons Dis Alzheimers Dis       Date:  2015-08
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