Joubert Syndrome Latest Advances

Find the Latest Research About Joubert Syndrome

Last Updated: 04/28/2026

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Found 711 publications

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

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

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.

Journal: BMJ case reports

Published: October 23, 2025

Near-Constant Asymmetric Oculomotor Apraxia in an Infant with Joubert Syndrome Spectrum Disorder.

Near-Constant Asymmetric Oculomotor Apraxia in an Infant with Joubert Syndrome Spectrum Disorder.

Journal: Movement disorders clinical practice

Published: October 09, 2025

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Neurodevelopmental Progression and Functional Outcomes in a Child With Joubert Syndrome: A Case Study.

Journal: Cureus

Published: September 18, 2025

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant.

Journal: Prenatal diagnosis

Published: August 06, 2025

Ciliopathy: Senior-Løken Syndrome.

Ciliopathy: Senior-Løken Syndrome.

Journal: Advances in experimental medicine and biology

Published: July 30, 2025

Showing 1-12 of 711

Last Updated: 04/28/2026