Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia-Reference-Cited by-同舟云学术

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Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

Published:2012-02-14 Issue:5 Volume:123 Page:695-709
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Juric-Sekhar Gordana,Adkins Jonathan,Doherty Dan,Hevner Robert F.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-012-0951-2.pdf

Reference70 articles.

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

2. Altman NR, Naidich TP, Braffman BH (1992) Posterior fossa malformations. AJNR Am J Neuroradiol 13:691–724

3. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (2007) The Meckel–Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186–194

4. Boltshauser E, Isler W (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8:57–66

5. Brancati F, Dallapiccola B, Valente EM (2010) Joubert syndrome and related disorders. Orphanet J Rare Dis 5:20

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