Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Background: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic ...

AHI1 is the first gene to be implicated in Joubert syndrome (JS), a rare malformation of the cerebellar vermis and brainstem with abnormalities of axon crossing. “While JS is pretty distinctive ...

A virtual-reality experience aimed at helping teachers and caregivers understand the sensory overload faced by people with ...

In humans, inositol polyphosphate 5-phosphatase (INPP5E) is mutated in one form of Joubert syndrome, a ciliopathy. INPP5E is enriched in the ciliary axoneme, and in fibroblasts from patients with ...

This can affect a wide range of the body's systems, including the brain. In Joubert syndrome, the brainstem does not form normally. Neurofibromatosis is a group of disorders of the nervous system that ...

Learn more online at shareagift.org. Asher is a patient at Children’s Hospital Colorado with Joubert Syndrome, a rare disease affecting brain development. (Photo courtesy: Children’s Hospital ...

His group uses a variety of genetic techniques (SNP mapping, array CGH, and high throughput sequencing) to identify the genes responsible for hindbrain malformation disorders such as Joubert syndrome.

Marfan syndrome is an inherited, or genetic, disease that affects your body's connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels ...

What awards has Joseph Joubert been nominated for? Joseph Joubert has been nominated for the following awards: Outstanding Orchestrations at the Outer Critics Circle Awards for Carmen Jones ...

The striking hyperpnea in infants with Joubert syndrome sets it apart from other conditions and often leads to a misdiagnosis of TTNB. Any infant in the newborn period who exhibits excessive ...