Literature DB >> 22231569

Craniovertebral junction abnormality in a case of Joubert syndrome.

Timothy W Vogel1, Brian J Dlouhy, Arnold H Menezes.   

Abstract

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Year:  2012        PMID： 22231569     DOI： 10.1007/s00381-012-1682-3

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


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  20 in total

1.  Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

Authors:  A E Kwitek-Black; R Carmi; G M Duyk; K H Buetow; K Elbedour; R Parvari; C N Yandava; E M Stone; V C Sheffield
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

2.  History of Joubert syndrome and a 30-year follow-up of the original proband.

Authors:  F Andermann; E Andermann; A Ptito; S Fontaine; M Joubert
Journal:  J Child Neurol       Date:  1999-09       Impact factor: 1.987

Review 3.  Cerebellar and brainstem development: an overview in relation to Joubert syndrome.

Authors:  A T Yachnis; L B Rorke
Journal:  J Child Neurol       Date:  1999-09       Impact factor: 1.987

4.  Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome.

Authors:  R G Quisling; A J Barkovich; B L Maria
Journal:  J Child Neurol       Date:  1999-10       Impact factor: 1.987

5.  Joubert syndrome: a clinico-radiological study.

Authors:  B Kendall; D Kingsley; S R Lambert; D Taylor; P Finn
Journal:  Neuroradiology       Date:  1990       Impact factor: 2.804

6.  Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Authors:  Stephanie L Bielas; Jennifer L Silhavy; Francesco Brancati; Marina V Kisseleva; Lihadh Al-Gazali; Laszlo Sztriha; Riad A Bayoumi; Maha S Zaki; Alice Abdel-Aleem; Rasim Ozgur Rosti; Hulya Kayserili; Dominika Swistun; Lesley C Scott; Enrico Bertini; Eugen Boltshauser; Elisa Fazzi; Lorena Travaglini; Seth J Field; Stephanie Gayral; Monique Jacoby; Stephane Schurmans; Bruno Dallapiccola; Philip W Majerus; Enza Maria Valente; Joseph G Gleeson
Journal:  Nat Genet       Date:  2009-08-09       Impact factor: 38.330

Review 7.  Inherited cerebrorenal syndromes.

Authors:  Scott J Schurman; Steven J Scheinman
Journal:  Nat Rev Nephrol       Date:  2009-09       Impact factor: 28.314

8.  Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool.

Authors:  Victor V Chizhikov; James Davenport; Qihong Zhang; Evelyn Kim Shih; Olga A Cabello; Jannon L Fuchs; Bradley K Yoder; Kathleen J Millen
Journal:  J Neurosci       Date:  2007-09-05       Impact factor: 6.167

Review 9.  Cerebellar development and disease.

Authors:  Kathleen J Millen; Joseph G Gleeson
Journal:  Curr Opin Neurobiol       Date:  2008-05-29       Impact factor: 6.627

10.  CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Authors:  Joon Kim; Suguna Rani Krishnaswami; Joseph G Gleeson
Journal:  Hum Mol Genet       Date:  2008-09-04       Impact factor: 6.150
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