Joubert Syndrome Latest Advances

Find the Latest Research About Joubert Syndrome

Last Updated: 06/30/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 719 publications

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Molecular Spectrum and Deep Phenotyping of a Turkish Joubert Syndrome Cohort, Including a Potential Candidate Gene, NPHP4.

Journal: Turkish archives of pediatrics

Published: April 27, 2026

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

A case of Joubert Syndrome and NPC1 mutation in a 7-year-old girl: presented with neuromotor developmental delay and ataxia.

Journal: Neurocase

Published: April 14, 2026

Joubert syndrome gene fam149b1 homolog, xbx-4 , is required for multiple sensory behaviors.

Joubert syndrome gene fam149b1 homolog, xbx-4 , is required for multiple sensory behaviors.

Journal: microPublication biology

Published: March 19, 2026

Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation.

Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation.

Journal: Children (Basel, Switzerland)

Published: March 18, 2026

Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.

Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.

Journal: Journal of clinical medicine

Published: March 03, 2026

Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.

Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.

Journal: Children (Basel, Switzerland)

Published: February 15, 2026

Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.

Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.

Journal: Brain sciences

Published: February 10, 2026

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report.

Journal: Cureus

Published: February 03, 2026

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review.

Journal: Frontiers in pediatrics

Published: December 14, 2025

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome.

Journal: Cureus

Published: December 14, 2025

Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin.

Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: November 20, 2025

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.

Journal: Human genomics

Published: November 15, 2025

Showing 1-12 of 719

Last Updated: 06/30/2026