Sage Journals: Discover world-class research

Retricted access

Brief report

First published 2022-9

Mosaicism in Fragile X syndrome: A family case series

Wilmar Saldarriaga, Laura Yuriko González-Teshima, Jose Vicente Forero-Forero [...]

Journal of Intellectual Disabilities

Open access

Review article

First published 2025-5

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints

Hiroyuki Ishiura

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2007-06

PCR Approach for Detection of Fragile X Syndrome and Huntington Disease Based on Modified DNA: Limits and Utility

Mónica Alejandra Rosales-Reynoso, Elisa Alonso Vilatela, Rosario Macias Ojeda [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2026-3

Cognitive dysfunction in women with the FMR1 premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education

Jessica Klusek, Jillian Gierman, Amanda J. Fairchild [...]

Journal of Alzheimer’s Disease

Open access

Review article

First published 2021

FAN1,a DNA Repair Nuclease,as a Modifier of Repeat Expansion Disorders

Amit L. Deshmukh, Antonio Porro, Mohiuddin Mohiuddin [...]

Journal of Huntington's Disease

Retricted access

Research article

First published 2014-08

iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in Initial Neurite Outgrowth

Matthew E. Doers, Michael T. Musser, Robert Nichol [...]

Stem Cells and Development

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Research article

First published 2022-08

Efficient Cloning and Sequence Validation of Repetitive and High GC-Content Short Hairpin RNAs

Ramadevi Chilamkurthy, Adam A. White, Adrian A. Pater [...]

Human Gene Therapy

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Brief report

First published 2002-06

Simple Fluorescent PCR Assay for Discriminating FRAXA Fully Mutated Females from Normal Homozygotes

Claude Houdayer, Julie Lourdaux, Thierry Billette de Villemeur [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2000-05

Characterization of Trinucleotide- and Tandem Repeat-Containing Transcripts Obtained from Human Spinal Cord cDNA Library by High-Density Filter Hybridization

Narendra Kaushik, Andrea Malaspina, Jackie De Belleroche

DNA and Cell Biology

Retricted access

Meeting report

First published 2009-12

Fragile X-Associated Tremor/Ataxia Syndrome: Clinical Phenotype,Diagnosis,and Treatment

Maureen A. Leehey

Journal of Investigative Medicine

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