Mirror Movements of the Left Hand in a Patient with Joubert Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13256
Abstract: Mirror movements (MM) refer to a rare phenomenon where simultaneous, identical, contralateral, involuntary movements accompany ipsilateral voluntary movements. In pediatric age group, MM can be isolated in the form of congenital mirror movements, or it… read more here.
Keywords: mirror movements; left hand; hand; joubert syndrome ... See more keywords
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1682
Abstract: Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However,… read more here.
Keywords: variability joubert; joubert syndrome; heterogeneity intrafamilial; clinical heterogeneity ... See more keywords
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1877
Abstract: Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and a limited number of studies have investigated the pathogenic mechanism of variants in patients with JS. RNA splicing… read more here.
Keywords: analysis identify; analysis; sequencing rna; exome sequencing ... See more keywords
Late-onset hydrocephalus in a child with Joubert syndrome: a case report
Sign Up to like & getrecommendations! Published in 2018 at "Child's Nervous System"
DOI: 10.1007/s00381-018-3767-0
Abstract: IntroductionThe ciliopathy “Joubert syndrome” was first described in 1969 by Dr. Marie Joubert and most subtypes follow an autosomal recessive inheritance. The complex disorder shows typical clinical features, such as hyperventilation, abnormal eye movements, and… read more here.
Keywords: onset hydrocephalus; child; case; joubert ... See more keywords
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular biology reports"
DOI: 10.1007/s11033-022-07353-w
Abstract: BACKGROUND The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. Pathogenic variants in this gene have been described in four patients diagnosed with Joubert syndrome (JBTS) 25.… read more here.
Keywords: joubert syndrome; gene; cep104 gene; pathogenic variants ... See more keywords
The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish
Sign Up to like & getrecommendations! Published in 2020 at "Neuroscience Bulletin"
DOI: 10.1007/s12264-020-00554-y
Abstract: Joubert syndrome is characterized by unique malformation of the cerebellar vermis. More than thirty Joubert syndrome genes have been identified, including ARL13B. However, its role in cerebellar development remains unexplored. We found that knockdown or… read more here.
Keywords: early cerebellar; joubert syndrome; cerebellar development; cerebellar ... See more keywords
Visual Evoked Potentials in Joubert Syndrome: A Suggested Useful Method for Evaluating Future Approaches Targeted to Improve Visual Pathways’ Function
Sign Up to like & getrecommendations! Published in 2020 at "Advances in Therapy"
DOI: 10.1007/s12325-020-01534-4
Abstract: Introduction Joubert syndrome (JS) is a recessive disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features including optic nerve morphologic abnormalities. The function of the visual pathways, including… read more here.
Keywords: visual pathways; targeted improve; visual evoked; pathways function ... See more keywords
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2021.04.011
Abstract: BACKGROUND Joubert syndrome is an autosomal recessive or X-linked genetic disease with a cerebellar vermis defect or hypoplasia, hypotonia, ocular dyskinesia, and mental retardation. In neonates, respiratory problems such as apnea and tachypnea are notable.… read more here.
Keywords: head titubation; irritability; joubert syndrome; homozygous nphp1 ... See more keywords
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Nature Cell Biology"
DOI: 10.1038/ncb3599
Abstract: Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition… read more here.
Keywords: transition zone; joubert syndrome; zone architecture; microscopy ... See more keywords
1035 Joubert Syndrome and severe central sleep apnea treated with noninvasive ventilation: A case report
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DOI: 10.1093/sleep/zsad077.1035
Abstract: Joubert syndrome is an autosomal recessive heterogenous ciliopathy characterized by cerebellar vermis hypoplasia resulting in ataxia, hypotonia, developmental delay, neonatal respiratory dysregulation, and abnormal eye movements. It is typically accompanied by the pathognomonic “molar tooth… read more here.
Keywords: sleep apnea; central sleep; case; joubert syndrome ... See more keywords
1039 The Progression of Sleep-Related Breathing Disorders in a Patient with Joubert syndrome
Sign Up to like & getrecommendations! Published in 2023 at "SLEEP"
DOI: 10.1093/sleep/zsad077.1039
Abstract: Joubert syndrome (JS) is a rare autosomal recessive disease characterized by malformations of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Among the potential health challenges that children with congenital malformations of the central… read more here.
Keywords: breathing disorders; related breathing; joubert syndrome; sleep related ... See more keywords