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Joubert syndrome: congenital cerebellar ataxia with the molar tooth
scientific article published on 17 July 2013
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
title
Joubert syndrome: congenital cerebellar ataxia with the molar tooth
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
main subject
congenital disorder
0 references
Joubert syndrome
1 reference
based on heuristic
inferred from title
cerebellar ataxia
1 reference
based on heuristic
inferred from title
author
Enza Maria Valente
series ordinal
3
object named as
Enza Maria Valente
0 references
Alessia Micalizzi
object named as
Alessia Micalizzi
series ordinal
2
0 references
author name string
Marta Romani
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
publication date
17 July 2013
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
published in
Lancet Neurology
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
volume
12
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
page(s)
894-905
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
issue
9
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
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TCTN3 mutations cause Mohr-Majewski syndrome
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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
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Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?
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6 September 2017
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
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Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
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Ciliopathies
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
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Joubert Syndrome and related disorders
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6 September 2017
A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution
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6 September 2017
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
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6 September 2017
Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders
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6 September 2017
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
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Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
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Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders
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6 September 2017
A developmental and genetic classification for midbrain-hindbrain malformations
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6 September 2017
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
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6 September 2017
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
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6 September 2017
Towards an integrated view of Wnt signaling in development
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6 September 2017
Inherited cerebrorenal syndromes
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6 September 2017
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
1 reference
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6 September 2017
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
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6 September 2017
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6 September 2017
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
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PubMed Central
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6 September 2017
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
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PubMed Central
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6 September 2017
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
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6 September 2017
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
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PubMed Central
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6 September 2017
Targeting proteins to the ciliary membrane.
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6 September 2017
Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling.
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6 September 2017
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
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6 September 2017
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
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PubMed Central
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6 September 2017
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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PubMed Central
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6 September 2017
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
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6 September 2017
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis
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6 September 2017
Human embryonic stem cells in culture possess primary cilia with hedgehog signaling machinery
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6 September 2017
Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Ftm is a novel basal body protein of cilia involved in Shh signalling
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PubMed Central
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6 September 2017
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations
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6 September 2017
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Dissection of epistasis in oligogenic Bardet-Biedl syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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6 September 2017
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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28 September 2017
Molecular characterization of Joubert syndrome in Saudi Arabia.
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PubMed Central
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26 June 2018
Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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26 June 2018
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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26 June 2018
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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26 June 2018
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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26 June 2018
Mutations in TMEM231 cause Joubert syndrome in French Canadians
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Self-reported sleep and breathing disturbances in Joubert syndrome.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Normal cognitive functions in joubert syndrome.
1 reference
stated in
PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
The face of Joubert syndrome: a study of dysmorphology and anthropometry.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Diffusion tensor imaging in Joubert syndrome.
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
retrieved
3 September 2018
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
retrieved
3 September 2018
Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
retrieved
3 September 2018
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
retrieved
3 September 2018
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 September 2018
Neuropathology of Joubert syndrome.
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
retrieved
3 September 2018
Expanding CEP290 mutational spectrum in ciliopathies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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20 October 2018
Evidence of Oligogenic Inheritance in Nephronophthisis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3809058
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3 December 2018
Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970136-4
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970136-4
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1474-4422%2813%2970136-4
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S1474-4422(13)70136-4
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
PMCID
3809058
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
PubMed ID
23870701
1 reference
stated in
Europe PubMed Central
PMCID
3809058
retrieved
19 August 2017
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