REFERENCES
1. Kroes HY,
van Zon PH,
van de Putte DF,
Nelen MR,
Nievelstein RJ,
Wittebol-Post D,
van NO,
Mancini GM,
van der Knaap MS,
Kwee ML,
Maas SM,
Cobben JM,
De Nef JE,
Lindhout D,
Sinke RJ: DNA analysis of AHI1,
NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Eur J Med Genet 2008,
51:24-34.
2. Parisi MA,
Doherty D,
Chance PF,
Glass IA: Joubert syndrome (and related disorders) (OMIM 213300).
Eur J Hum Genet 2007,
15:511-521.
3. Maria B,
Quisling R,
Rosainz L,
et al.
Molar tooth sign in Joubert syndrome: clinical,
radiologic,
and pathologic significance.
J Child Neurol 1999;14(6): 368–76.
4. Joubert M,
Eisenring JJ,
Robb JP,
et al.
Familial agenesis of the cerebellar vermis.
A syndrome of episodic hyperpnea,
abnormal eye movements,
ataxia,
and retardation.
Neurology 1969;19:813–25.
5. Valente EM,
Brancati F,
Dallapiccola B.
Genotypes and phenotypes of Joubert syndrome and related disorders.
Eur J Med Genet 2008;51:1-23.
6. Poretti A,
Boltshauser E,
Loenneker T,
Valente EM,
Brancati F,
Il'yasov K,
Huisman TA.
Diffusion tensor imaging in Joubert syndrome.
AJNR Am J Neuroradiol 2007;28:1929-33.
7. Merlini L,
Vargas MI,
De Haller R,
Rilliet B,
Fluss J.
MRI with fibre tracking in Cogan congenital oculomotor apraxia.
Pediatr Radiol 2010;40:1625-33.
8. Widjaja E,
Blaser S,
Raybaud C.
Diffusion tensor imaging of midline posterior fossa malformations.
Pediatr Radiol 2006 36:510-7.
9. Lee SK,
Kim DI,
Kim J,
Kim DJ,
Kim HD,
Kim DS,
Mori S.
Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies.
Radiographics 2005 25:53-65; discussion 66-8.
10. Yachnis AT,
Rorke LB.
Neuropathology of Joubert syndrome.
J Child Neurol 1999;14:655-59.