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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric NeuroimagingC, 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
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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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Cited By...

  • 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
  • SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
  • 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
  • Joubert syndrome
  • 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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