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Literature DB >> 20568092

Parkinsonism and cognitive decline in a fragile X mosaic male.

Deborah Hall, Laura Pickler, Karen Riley, Flora Tassone, Randi Hagerman.

Abstract

Entities: Chemical Disease Gene Species

Mesh：

Year: 2010 PMID： 20568092 PMCID： PMC4051493 DOI： 10.1002/mds.23150

Source DB: PubMed Journal: Mov Disord ISSN： 0885-3185 Impact factor: 10.338

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12 in total

1. Comparison of rating scales for the diagnosis of dementia in adults with Down's syndrome.

Authors: S Deb; J Braganza
Journal: J Intellect Disabil Res Date: 1999-10

2. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

Authors: Xiao-Dong Han; Berkley R Powell; Judith L Phalin; Farid F Chehab
Journal: Am J Med Genet A Date: 2006-07-01 Impact factor: 2.802

3. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.

Authors: Deborah A Hall; Katherine Howard; Randi Hagerman; Maureen A Leehey
Journal: Parkinsonism Relat Disord Date: 2008-06-20 Impact factor: 4.891

4. The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

Authors: E de Graaff; B B de Vries; R Willemsen; J O van Hemel; S Mohkamsing; B A Oostra; A M van den Ouweland
Journal: Am J Med Genet Date: 1996-08-09

5. Diagnostic instruments for dementia in older people with intellectual disability in clinical practice.

Authors: A Strydom; A Hassiotis
Journal: Aging Ment Health Date: 2003-11 Impact factor: 3.658

Review 6. Phenotypic variation and FMRP levels in fragile X.

Authors: Danuta Z Loesch; Richard M Huggins; Randi J Hagerman
Journal: Ment Retard Dev Disabil Res Rev Date: 2004

7. Movement disorders associated with aripiprazole use: a case series.

Authors: Deborah A Hall; Pinky Agarwal; Alida Griffith; Vicki Segro; Lauren C Seeberger
Journal: Int J Neurosci Date: 2009 Impact factor: 2.292

8. The Mini Mental State in those with developmental disabilities.

Authors: B A Myers
Journal: J Nerv Ment Dis Date: 1987-02 Impact factor: 2.254

9. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Authors: M A Leehey; E Berry-Kravis; C G Goetz; L Zhang; D A Hall; L Li; C D Rice; R Lara; J Cogswell; A Reynolds; L Gane; S Jacquemont; F Tassone; J Grigsby; R J Hagerman; P J Hagerman
Journal: Neurology Date: 2007-12-05 Impact factor: 9.910

10. FMRP mediates mGluR5-dependent translation of amyloid precursor protein.

Authors: Cara J Westmark; James S Malter
Journal: PLoS Biol Date: 2007-03 Impact factor: 8.029

9 in total

1. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Authors: Michael R Hunsaker; Claudia M Greco; Marian A Spath; Arie P T Smits; Celestine S Navarro; Flora Tassone; Johan M Kros; Lies-Anne Severijnen; Elizabeth M Berry-Kravis; Robert F Berman; Paul J Hagerman; Rob Willemsen; Randi J Hagerman; Renate K Hukema
Journal: Acta Neuropathol Date: 2011-07-23 Impact factor: 17.088

Parkinsonism and cognitive decline in a fragile X mosaic male.

1. Comparison of rating scales for the diagnosis of dementia in adults with Down's syndrome.

2. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

3. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease.

4. The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

5. Diagnostic instruments for dementia in older people with intellectual disability in clinical practice.

Review 6. Phenotypic variation and FMRP levels in fragile X.

7. Movement disorders associated with aripiprazole use: a case series.

8. The Mini Mental State in those with developmental disabilities.

9. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

10. FMRP mediates mGluR5-dependent translation of amyloid precursor protein.

1. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Review 2. Neurogenetic disorders across the lifespan: from aberrant development to degeneration.

Review 3. Unstable mutations in the FMR1 gene and the phenotypes.

4. Fragile X syndrome: an aging perspective.

5. Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.

6. Intranuclear inclusions in a fragile X mosaic male.

7. Current Gaps in Understanding the Molecular Basis of FXTAS.

8. In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Review 9. Dopaminergic Dysregulation in Syndromic Autism Spectrum Disorders: Insights From Genetic Mouse Models.