Cgg Expansion | List of Frontiers open access articles

Original Research

Published on 12 Nov 2018

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

in Genetics of Common and Rare Diseases

Danuta Z. Loesch
Nicholas Trost
Minh Q. Bui
Eleanor Hammersley
Sui T. Lay
Sarah J. Annesley
Oana Sanislav
Claire Y. Allan
Flora Tassone
Zhi-Ping Chen

Frontiers in Genetics

doi 10.3389/fgene.2018.00531

3,509 views
11 citations

Original Research

Published on 02 Nov 2018

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

in Genetics of Common and Rare Diseases

Esperanza Fernández
Elena Gennaro
Filomena Pirozzi
Chiara Baldo
Francesca Forzano
Licia Turolla
Francesca Faravelli
Denise Gastaldo
Domenico Coviello
Marina Grasso

Frontiers in Genetics

doi 10.3389/fgene.2018.00442

6,547 views
9 citations

Original Research

Published on 16 May 2018

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

in Genetics of Common and Rare Diseases

Simon Ardui
Valerie Race
Thomy de Ravel
Hilde Van Esch
Koenraad Devriendt
Gert Matthijs
Joris R. Vermeesch

Frontiers in Genetics

doi 10.3389/fgene.2018.00150

10,543 views
31 citations

Original Research

Published on 12 Aug 2016

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers

in Molecular Signalling and Pathways

Cecilia Giulivi
Eleonora Napoli
Flora Tassone
Julian Halmai
Randi Hagerman

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2016.00071

5,181 views
27 citations

Original Research

Published on 07 Apr 2020

Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome

in Neuropharmacology

Arun Kumar Verma
Eshan Khan
Subodh Kumar Mishra
Amit Mishra
Nicolas Charlet-Berguerand
Amit Kumar

Frontiers in Neuroscience

doi 10.3389/fnins.2020.00295

6,925 views
19 citations

Original Research

Published on 27 Aug 2018

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins

in Genetics of Common and Rare Diseases

Eleonora Napoli
Andrea Schneider
Randi Hagerman
Gyu Song
Sarah Wong
Flora Tassone
Cecilia Giulivi

Frontiers in Genetics

doi 10.3389/fgene.2018.00338

4,485 views
17 citations

Original Research

Published on 10 Jul 2019

Impaired Attention Orienting in Young Children With Fragile X Syndrome

in Human Developmental Psychology

Mariya Chernenok
Jessica L. Burris
Emily Owen
Susan M. Rivera

Frontiers in Psychology

doi 10.3389/fpsyg.2019.01567

4,542 views
10 citations

Original Research

Published on 16 Feb 2026

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers

in Brain Disease Mechanisms

Andrea Elias-Mas
Irene Paracuellos-Ayala
Jun Yi Wang
Kyoungmi Kim
Flora Tassone
Andrea Schneider
David Hessl
Susan M. Rivera
Randi J. Hagerman

Frontiers in Molecular Neuroscience

doi 10.3389/fnmol.2026.1720370

422 views

Original Research

Published on 24 Aug 2018

Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range

in Genetics of Common and Rare Diseases

Jessica Klusek
Anna Porter
Leonard Abbeduto
Tatyana Adayev
Flora Tassone
Marsha R. Mailick
Anne Glicksman
Bridgette L. Tonnsen
Jane E. Roberts

Frontiers in Genetics

doi 10.3389/fgene.2018.00344

6,364 views
33 citations

Articles

The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers

Curcumin Regulates the r(CGG)exp RNA Hairpin Structure and Ameliorate Defects in Fragile X-Associated Tremor Ataxia Syndrome

Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins

Impaired Attention Orienting in Young Children With Fragile X Syndrome

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers

Curvilinear Association Between Language Disfluency and FMR1 CGG Repeat Size Across the Normal, Intermediate, and Premutation Range