Think Rare: Current Advances on Understanding and Treatment of X-Linked Neurodevelopmental Disorders

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CASE REPORT

Published on 08 Aug 2025

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients

Lixia Xu
Ke Wu
Yan Cong

doi 10.3389/fped.2025.1570911

283 views

MINI REVIEW

Published on 30 Jul 2025

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

Kathryn Step
Thiago Peixoto Leal
Walaa A. Kamel
Emily Waldo
Soraya Bardien
Ignacio F. Mata

doi 10.3389/fgene.2025.1650259

906 views

PERSPECTIVE

Published on 07 Jul 2025

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research

Carole Chehowah
Audrey Mittelman
Vincent des Portes

doi 10.3389/fnins.2025.1620586

1,407 views

PERSPECTIVE

Published on 07 May 2025

fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function?

Elena Scaffei
Chiara Bosetti
Roberta Battini
Michela Fagiolini
Laura Baroncelli

doi 10.3389/fnins.2025.1560786

1,406 views
1 citation

ORIGINAL RESEARCH

Published on 29 Apr 2025

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes

Lara Duran-Trio
Marc Lanzillo
Dunja Simicic
Clothilde Roux-Petronelli
Stephen J. Bruce
Carmen Sandi
Cristina Cudalbu
Olivier Braissant

doi 10.3389/fnins.2025.1520550

1,427 views

PERSPECTIVE

Published on 25 Feb 2025

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency

Heidi Wallis
Sangeetha Iyer
Emily K. Reinhardt

doi 10.3389/fnins.2025.1548182

1,109 views

MINI REVIEW

Published on 06 Jun 2024

Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues

Daniel Bauersachs
Louise Bomholtz
Sara del Rey Mateos
Ralf Kühn
Pawel Lisowski

doi 10.3389/fnins.2024.1426177

4,179 views
1 citation

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Frontiers in Neuroscience

Neurodevelopment

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