Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

The past decade has witnessed a rapid evolution in rare disease (RD) research, fueled by
the availability of genome-wide (exome and genome) sequencing. In 2011, as this …

The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Cilia are essential organelles that protrude from the cell body. Cilia are made of a
microtubule-based structure called the axoneme. In most types of cilia, the ciliary tip is …

Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a
characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic …

Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle,
the primary cilia. Affected patients often present with disorders involving multiple organ …

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a
pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in …

Regulation of the microtubule cytoskeleton is of pivotal importance for neuronal
development and function. One such regulatory mechanism centers on microtubule plus …