Articles

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

in Neurodevelopment

• Carole Chehowah
• Audrey Mittelman
• Vincent des Portes

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism

in Striated Muscle Physiology

• Malte Stockebrand
• Ali Sasani
• Devashish Das
• Sönke Hornig
• Irm Hermans-Borgmeyer
• Hannah A. Lake
• Dirk Isbrandt
• Craig A. Lygate
• Arend Heerschap
• Axel Neu

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

in Neurodevelopment

• Heidi Wallis
• Sangeetha Iyer
• Emily K. Reinhardt

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring

in Neuropharmacology

• Léa Broca-Brisson
• Clémence Disdier
• Rania Harati
• Rifat Hamoudi
• Aloïse Mabondzo

Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency

in Brain Disease Mechanisms

• Aloïse Mabondzo
• Rania Harati
• Léa Broca-Brisson
• Anne-Cécile Guyot
• Narciso Costa
• Francesco Cacciante
• Elena Putignano
• Laura Baroncelli
• Matthew R. Skelton
• Cathy Saab

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

in Neurodevelopment

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

The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome

• Clemens V. Farr
• Ali El-Kasaby
• Michael Freissmuth
• Sonja Sucic