Literature DB >> 5816874

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

M Joubert, J J Eisenring, J P Robb, F Andermann.   

Abstract

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Mesh：

Year:  1969        PMID： 5816874     DOI： 10.1212/wnl.19.9.813

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  134 in total

1.  Frequency characteristics of accommodation in a patient with agenesis of the posterior vermis and normal subjects.

Authors:  K Ohtsuka; M Sawa
Journal:  Br J Ophthalmol       Date:  1997-06       Impact factor: 4.638

2.  Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding.

Authors:  I Harting; U Kotzaeridou; A Poretti; A Seitz; J Pietz; M Bendszus; E Boltshauser
Journal:  AJNR Am J Neuroradiol       Date:  2011-06-02       Impact factor: 3.825

3.  Craniovertebral junction abnormality in a case of Joubert syndrome.

Authors:  Timothy W Vogel; Brian J Dlouhy; Arnold H Menezes
Journal:  Childs Nerv Syst       Date:  2012-01-10       Impact factor: 1.475

4.  Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Authors:  Myriam Srour; Jeremy Schwartzentruber; Fadi F Hamdan; Luis H Ospina; Lysanne Patry; Damian Labuda; Christine Massicotte; Sylvia Dobrzeniecka; José-Mario Capo-Chichi; Simon Papillon-Cavanagh; Mark E Samuels; Kym M Boycott; Michael I Shevell; Rachel Laframboise; Valérie Désilets; Bruno Maranda; Guy A Rouleau; Jacek Majewski; Jacques L Michaud
Journal:  Am J Hum Genet       Date:  2012-03-15       Impact factor: 11.025

5.  Ataxia, hyperpnoea and mental retardation: was it the molar tooth?

Authors:  Osama S M Amin; Sa'ad Seud Shwani
Journal:  BMJ Case Rep       Date:  2010-04-29

6.  Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign.

Authors:  Satvinder Kaur; Ketan Kulkarni
Journal:  BMJ Case Rep       Date:  2010-04-29

7.  Joubert syndrome associated with severe central sleep apnea.

Authors:  Lisa Wolfe; Hüseyin Lakadamyali; Gökhan M Mutlu
Journal:  J Clin Sleep Med       Date:  2010-08-15       Impact factor: 4.062

8.  Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.

Authors:  A M Lehman; P Eydoux; D Doherty; I A Glass; D Chitayat; B Y H Chung; S Langlois; S L Yong; R B Lowry; F Hildebrandt; P Trnka
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

9.  Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Authors:  Myriam Srour; Fadi F Hamdan; Dianalee McKnight; Erica Davis; Hanna Mandel; Jeremy Schwartzentruber; Brissa Martin; Lysanne Patry; Christina Nassif; Alexandre Dionne-Laporte; Luis H Ospina; Emmanuelle Lemyre; Christine Massicotte; Rachel Laframboise; Bruno Maranda; Damian Labuda; Jean-Claude Décarie; Françoise Rypens; Dorith Goldsher; Catherine Fallet-Bianco; Jean-François Soucy; Anne-Marie Laberge; Catalina Maftei; Kym Boycott; Bernard Brais; Renée-Myriam Boucher; Guy A Rouleau; Nicholas Katsanis; Jacek Majewski; Orly Elpeleg; Mary K Kukolich; Stavit Shalev; Jacques L Michaud
Journal:  Am J Hum Genet       Date:  2015-10-17       Impact factor: 11.025

10.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825
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