CASE REPORT
Accepted on 18 Jul 2025
Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients
doi 10.3389/fped.2025.1570911
- Frontiers in Neuroscience
- Neurodevelopment
- Research Topics
- Think Rare: Current Advances on Understanding and Treatment of X-Linked Neurodevelopmental Disorders
Think Rare: Current Advances on Understanding and Treatment of X-Linked Neurodevelopmental Disorders
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Articles
PERSPECTIVE
Published on 07 Jul 2025
An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research
doi 10.3389/fnins.2025.1620586
- 685 views
PERSPECTIVE
Published on 07 May 2025
fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function?
doi 10.3389/fnins.2025.1560786
- 1,263 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
doi 10.3389/fnins.2025.1520550
- 1,276 views
PERSPECTIVE
Published on 25 Feb 2025
How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency
doi 10.3389/fnins.2025.1548182
- 978 views
MINI REVIEW
Published on 06 Jun 2024
Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues
doi 10.3389/fnins.2024.1426177
- 4,028 views
- 1 citation
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