FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene

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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the Gene

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im Januar 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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P1476

FXS-Like Phenotype in Two Unre ...... ylated Premutation of the Gene

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Chiara Baldo

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Claudia Bagni

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Denise Gastaldo

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Domenico Coviello

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Elena Gennaro

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Esperanza Fernández

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Filomena Pirozzi

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Francesca Faravelli

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Francesca Forzano

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Licia Turolla

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P2860

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

Dysregulation and restoration of translational homeostasis in fragile X syndrome

Dynamic mutations: a decade of unstable expanded repeats in human genetic disease

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

The fragile X mental retardation protein-RNP granules show an mGluR-dependent localization in the post-synaptic spines

Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?

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442

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scholarly article

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10.3389/FGENE.2018.00442

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English

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2018-01-01T00:00:00Z

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30450110

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molecular medicine

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6224343

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