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Research ArticlePediatricsC, F

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

A. Poretti, T.A.G.M. Huisman, I. Scheer and E. Boltshauser
American Journal of Neuroradiology September 2011, 32 (8) 1459-1463; DOI: https://doi.org/10.3174/ajnr.A2517
A. Poretti
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T.A.G.M. Huisman
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I. Scheer
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E. Boltshauser
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American Journal of Neuroradiology: 32 (8)
American Journal of Neuroradiology
Vol. 32, Issue 8
1 Sep 2011
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Cite this article
A. Poretti, T.A.G.M. Huisman, I. Scheer, E. Boltshauser
Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
American Journal of Neuroradiology Sep 2011, 32 (8) 1459-1463; DOI: 10.3174/ajnr.A2517

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Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients
A. Poretti, T.A.G.M. Huisman, I. Scheer, E. Boltshauser
American Journal of Neuroradiology Sep 2011, 32 (8) 1459-1463; DOI: 10.3174/ajnr.A2517
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  • Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system
  • Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation
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  • A transient role of primary cilia in controlling direct versus indirect neurogenesis in the developing cerebral cortex
  • Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration
  • The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling
  • The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling
  • Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome
  • Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
  • Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
  • Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution
  • MKS1 regulates ciliary INPP5E levels in Joubert syndrome
  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
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  • Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI
  • Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
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This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

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    Trends in Cognitive Sciences 2011 15 9
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  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
    R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, P Chance, M A Parisi, I A Glass, J Shendure, D Doherty
    Journal of Medical Genetics 2015 52 8
  • Primary cilia in neurodevelopmental disorders
    Enza Maria Valente, Rasim O. Rosti, Elizabeth Gibbs, Joseph G. Gleeson
    Nature Reviews Neurology 2014 10 1
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    RadioGraphics 2015 35 1
  • Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
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    American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014 166 2
  • Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics
    Dan Doherty, Kathleen J Millen, A James Barkovich
    The Lancet Neurology 2013 12 4
  • Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
    Karina Tuz, Ruxandra Bachmann-Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Lourenco, Abdulrahman Alswaid, Carsten G. Bönnemann, Livija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian A. Glass, Jay Shendure, Stephan C.F. Neuhauss, Chad R. Haldeman-Englert, Dan Doherty, Russell J. Ferland
    The American Journal of Human Genetics 2014 94 1
  • Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia
    Gordana Juric-Sekhar, Jonathan Adkins, Dan Doherty, Robert F. Hevner
    Acta Neuropathologica 2012 123 5
  • Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
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    Neurobiology of Disease 2021 150

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