1. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and mental retardation;Joubert, M.; Eisenring, J.J.; Robb, J.P.; Andermann, F.;Neurology (Minneap),1969
2. Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis;Boltshauser, E.; Isler, W.;Neuropadiatrie,1977
3. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome;Friede, R.L.; Boltshauser, E.;Dev Med Child Neurol,1978
4. Joubert syndrome: Clinical and polygraphic observations in a further case;Boltshauser, E.; Herdan, M.; Dummermuth, G.; Isler, W.;Neuropediatrics,1981
5. Vermian agenesis and unsegmented midbrain tectum. Case report;Calogero, J.A.;J Neurosurg; Zusammenhaenge zwischen Atemregulation und paradoxem Schlaf bei einem Patienten mit Joubert-Syndrom,1977