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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2008 1
2009 1
2011 1
2013 1
2014 2
2015 2
2018 1
2019 2
2020 1
2023 0

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Page 1
Sleep in Children with Congenital Malformations of the Central Nervous System.
Yates JF, Troester MM, Ingram DG. Yates JF, et al. Curr Neurol Neurosci Rep. 2018 May 23;18(7):38. doi: 10.1007/s11910-018-0850-6. Curr Neurol Neurosci Rep. 2018. PMID: 29789951 Review.
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, …
RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CN …
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. ...CASE PRESENTATION: A 7 year-old male was enrolled in a dedicated "Undiagnosed Patients Program" for a peculiar form of Joubert …
BACKGROUND: Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. . …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality. ...Neuroimaging was performed on 197 patients and was normal in 39.1%. Abnormalities inv …
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The mini …
Cerebellar disorders in childhood: cognitive problems.
Steinlin M. Steinlin M. Cerebellum. 2008;7(4):607-10. doi: 10.1007/s12311-008-0083-3. Epub 2008 Dec 5. Cerebellum. 2008. PMID: 19057977 Free article. Review.
Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to devel …
Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascert …
Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.
Hor CH, Goh EL. Hor CH, et al. Curr Opin Genet Dev. 2019 Jun;56:61-68. doi: 10.1016/j.gde.2019.07.009. Epub 2019 Aug 27. Curr Opin Genet Dev. 2019. PMID: 31465935 Review.
Small GTPases are known to have pivotal roles in intracellular trafficking, and several members of the small GTPases superfamily such as Rab10 [1,2()], Rab11 [3-5], Rab34 [6(),7], Rab8 [3,8], Rab23 [9-12], RSG1 [13-15], Arl13b [16-22], and Arl6 [22,23] were recently report …
Small GTPases are known to have pivotal roles in intracellular trafficking, and several members of the small GTPases superfamily such as Rab …
Tectonic gene mutations in patients with Joubert syndrome.
Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C. Huppke P, et al. Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118024 Free PMC article. Review.
In a boy aged 12 years with intellectual disability and the classical molar tooth sign on MRI, a homozygous splice-site sequence variant in TCTN3 leading to in-frame skipping of exon 7 was detected. A previously described non-truncating sequence variant in TCTN3 was also a …
In a boy aged 12 years with intellectual disability and the classical molar tooth sign on MRI, a homozygous splice-site sequence variant in …
Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generator.
Champagnat J, Morin-Surun MP, Fortin G, Thoby-Brisson M. Champagnat J, et al. Philos Trans R Soc Lond B Biol Sci. 2009 Sep 12;364(1529):2469-76. doi: 10.1098/rstb.2009.0090. Philos Trans R Soc Lond B Biol Sci. 2009. PMID: 19651648 Free PMC article. Review.
The same result is obtained by the Phox2a(+/-) mutation modifying the number of petrosal chemoafferent neurons, by eliminating acetylcholinesterase and by altering Hox-dependent development of the pons with retinoic acid administration at embryonic day 7.5. In addition, em …
The same result is obtained by the Phox2a(+/-) mutation modifying the number of petrosal chemoafferent neurons, by eliminating acetylcholine …
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Hannah WB, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1. Mol Genet Genomic Med. 2019. PMID: 31373179 Free PMC article. Review.
BACKGROUND: OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X-linked intellectual disability, Joubert …
BACKGROUND: OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral-facial-digital syndro …
Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders.
Chapman T, Mahalingam S, Ishak GE, Nixon JN, Siebert J, Dighe MK. Chapman T, et al. Clin Imaging. 2015 Mar-Apr;39(2):167-75. doi: 10.1016/j.clinimag.2014.10.012. Epub 2014 Oct 22. Clin Imaging. 2015. PMID: 25457569 Review.
These disorders are discussed in the context of an anatomic classification scheme described in Part 1 of this posterior fossa anomaly review. Assessment of the size and formation of the cerebellar hemispheres and vermis is critical. Diagnoses discussed here include …
These disorders are discussed in the context of an anatomic classification scheme described in Part 1 of this posterior fossa anomaly review …
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology].
Espinós-Armero C, González-Cabo P, Palau-Martínez F. Espinós-Armero C, et al. Rev Neurol. 2005 Oct 1-15;41(7):409-22. Rev Neurol. 2005. PMID: 16193447 Free article. Review. Spanish.
INTRODUCTION AND DEVELOPMENT: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs. ...Other forms are much less common, and in …
INTRODUCTION AND DEVELOPMENT: Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders …
11 results