2010

Neuro-ophthalmological and ophthalmological findings in Joubert syndrome].

Schild AM, Fricke J, Herkenrath P, Bolz H, Neugebauer A.

Klin Monbl Augenheilkd. 2010 Oct;227(10):786-91. Epub 2010 Oct 20. German

Joubert syndrome associated with severe central sleep apnea.

Wolfe L, Lakadamyali H, Mutlu GM.

J Clin Sleep Med. 2010 Aug 15;6(4):384-8.PMID: 20726289 [PubMed - indexed for M

Joubert Syndrome and related disorders.

Brancati F, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2010 Jul 8;5:20. Review

Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1.

Westfall JE, Hoyt C, Liu Q, Hsiao YC, Pierce EA, Page-McCaw PS, Ferland RJ.

J Neurosci. 2010 Jun 30;30(26):8759-68

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Kroes HY, Van Zanten BG, De Ru SA, Boon M, Mancini GM, Van der Knaap MS, Poll-The BT, Lindhout D.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1034-8. Epub 2010 Jun 2

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG.

Nat Genet. 2010 Jul;42(7):619-25. Epub 2010 May 30

Joubert syndrome: large clinical variability and a unique neuroimaging aspect.

Leão EK, Lima MM, Maia OO Jr, Parizotto J, Kok F.

Arq Neuropsiquiatr. 2010 Apr;68(2):273

Normal cognitive functions in joubert syndrome.

Poretti A, Dietrich Alber F, Brancati F, Dallapiccola B, Valente EM, Boltshauser E.

Neuropediatrics. 2009 Dec;40(6):287-90. Epub 2010 May 5

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM.

Hum Mutat. 2010 May;31(5):E1319-31.

The 'molar tooth sign' in Joubert syndrome.

Rehman I, Bett Z, Husen Y, Akhtar AS, Khan FA.

J Pak Med Assoc. 2009 Dec;59(12):

Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders.

Senocak EU, Oguz KK, Haliloglu G, Topçu M, Cila A.

Diagn Interv Radiol. 2010 Mar;16(1):3-6. Epub 2010 Jan 2

The role of primary cilia in neuronal function.

Lee JH, Gleeson JG.

Neurobiol Dis. 2010 May;38(2):167-72. Epub 2010 Jan 22. Review.

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O.

Am J Hum Genet. 2010 Jan;86(1):93-7. Epub 2009 Dec 31. Erratum in: Am J Hum Genet. 2010 Feb;86(2):294. Shanske, Alan L

Clinical and molecular features of Joubert syndrome and related disorders.

Parisi MA.

Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. Review.

Evidence for a link among cognition, language and emotion in cerebellar malformations.

Tavano A, Borgatti R.

Cortex. 2010 Jul-Aug;46(7):907-18. Epub 2009 Sep 16

2009

Joubert syndrome: insights into brain development, cilium biology, and complex disease.

Doherty D.

Semin Pediatr Neurol. 2009 Sep;16(3):143-54. Review

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.

Hum Mutat. 2009 Nov;30(11):1574-82

Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

Am J Med Genet A. 2009 Oct;149A(10):2173-80

Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

Hsiao YC, Tong ZJ, Westfall JE, Ault JG, Page-McCaw PS, Ferland RJ.

Hum Mol Genet. 2009 Oct 15;18(20):3926-41. Epub 2009 Jul 2

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA.

J Med Genet. 2010 Jan;47(1):8-21. Epub 2009 Jul 1.

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R.

Am J Med Genet A. 2009 Jul;149A(7):1511-5

Ophthalmological findings in Joubert syndrome.

Sturm V, Leiba H, Menke MN, Valente EM, Poretti A, Landau K, Boltshauser E.

Eye (Lond). 2010 Feb;24(2):222-5. Epub 2009 May 22

Eye movement abnormalities in Joubert syndrome.

Weiss AH, Doherty D, Parisi M, Shaw D, Glass I, Phillips JO.

Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4669-77. Epub 2009 May 14

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. Epub 2009 May 10

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group.

Hum Mutat. 2009 Feb;30(2):E432-42

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D.

Am J Hum Genet. 2008 Nov;83(5):559-71. Epub 2008 Oct 2

2008

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH.

Hum Mol Genet. 2008 Dec 15;17(24):3887-96. Epub 2008 Sep 9

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

Kim J, Krishnaswami SR, Gleeson JG.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805. Epub 2008 Sep 4

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG.

Am J Hum Genet. 2008 Aug;83(2):170-9.

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM

Cerebellar development and disease.

Millen KJ, Gleeson JG.

Curr Opin Neurobiol. 2008 Feb;18(1):12-9. Epub 2008 May 29. Review.

The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families.

Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG.

Neurology. 2008 Feb 12;70(7):556-65.