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Literature DB >> 15689437

Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

S Jacquemont¹, A Orrico, L Galli, P K Sahota, J A Brunberg, C Anichini, M Leehey, S Schaeffer, R J Hagerman, P J Hagerman, F Tassone.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2005 PMID： 15689437 PMCID： PMC1735999 DOI： 10.1136/jmg.2004.024190

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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18 in total

Review 1. [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

Authors: M J Salcedo-Arellano; R J Hagerman; V Martinez-Cerdeno
Journal: Rev Neurol Date: 2019-03-01 Impact factor: 0.870

2. A Case of Generalized Chorea Presenting as an Early Feature of Fragile-X Associated Tremor/Ataxia Syndrome.

Authors: Fariha Islam; Will Lee
Journal: Mov Disord Clin Pract Date: 2020-04-18

3. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Authors: David Eugeny Godler; Flora Tassone; Danuta Zuzanna Loesch; Annette Kimball Taylor; Freya Gehling; Randi Jenssen Hagerman; Trent Burgess; Devika Ganesamoorthy; Debbie Hennerich; Lavinia Gordon; Andrew Evans; K H Choo; Howard Robert Slater
Journal: Hum Mol Genet Date: 2010-01-29 Impact factor: 6.150

4. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.

Authors: F Tassone; C M Greco; M R Hunsaker; A L Seritan; R F Berman; L W Gane; S Jacquemont; K Basuta; L-W Jin; P J Hagerman; R J Hagerman
Journal: Genes Brain Behav Date: 2012-04-06 Impact factor: 3.449

5. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

Authors: P E Adams; J S Adams; D V Nguyen; D Hessl; J A Brunberg; F Tassone; W Zhang; K Koldewyn; S M Rivera; J Grigsby; L Zhang; C Decarli; P J Hagerman; R J Hagerman
Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2010-04-05 Impact factor: 3.568

6. Expanded clinical phenotype of women with the FMR1 premutation.

Authors: Sarah M Coffey; Kylee Cook; Nicole Tartaglia; Flora Tassone; Danh V Nguyen; Ruiqin Pan; Hannah E Bronsky; Jennifer Yuhas; Mariya Borodyanskaya; Jim Grigsby; Melanie Doerflinger; Paul J Hagerman; Randi J Hagerman
Journal: Am J Med Genet A Date: 2008-04-15 Impact factor: 2.802

Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

Review 1. [Fragile X associated tremor/ataxia syndrome: its clinical presentation, pathology, and treatment].

2. A Case of Generalized Chorea Presenting as an Early Feature of Fragile-X Associated Tremor/Ataxia Syndrome.

3. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

4. Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.

5. Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers.

6. Expanded clinical phenotype of women with the FMR1 premutation.

Review 7. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.

8. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome.

Review 9. Unstable mutations in the FMR1 gene and the phenotypes.

10. Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.