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Neuroanatomy of autism: what is the role of the cerebellum?
Baizer JS. Baizer JS. Cereb Cortex. 2024 May 2;34(13):94-103. doi: 10.1093/cercor/bhae050. Cereb Cortex. 2024. PMID: 38696597 Free PMC article. Review.
We will review data on damage to the cerebellum from cerebellar lesions, tumors, and several syndromes (Joubert syndrome, Fragile X, and tuberous sclerosis). Collectively, these studies raise the question of whether the cerebellum really has a role in autism spectru …
We will review data on damage to the cerebellum from cerebellar lesions, tumors, and several syndromes (Joubert syndrome, Frag …
OFD Type I syndrome: lessons learned from a rare ciliopathy.
Morleo M, Franco B. Morleo M, et al. Biochem Soc Trans. 2020 Oct 30;48(5):1929-1939. doi: 10.1042/BST20191029. Biochem Soc Trans. 2020. PMID: 32897366 Review.
The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, retinitis pigmentosa, primary ciliary dyskinesia and Simpson-Golabi-Behmel type 2 syndrome. ...
The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, reti …
Phosphoinositide phosphatases: just as important as the kinases.
Dyson JM, Fedele CG, Davies EM, Becanovic J, Mitchell CA. Dyson JM, et al. Subcell Biochem. 2012;58:215-79. doi: 10.1007/978-94-007-3012-0_7. Subcell Biochem. 2012. PMID: 22403078 Review.
Two 5-phosphatase genes, OCRL and INPP5E are mutated in Lowe and Joubert syndrome respectively. SHIP [SH2 (Src homology 2)-domain inositol phosphatase] 2, and SKIP (skeletal muscle- and kidney-enriched inositol phosphatase) negatively regulate insulin signaling and …
Two 5-phosphatase genes, OCRL and INPP5E are mutated in Lowe and Joubert syndrome respectively. SHIP [SH2 (Src homology 2)-dom …
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM. Salman MS, et al. Can J Neurol Sci. 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. Can J Neurol Sci. 2013. PMID: 23419574 Review.
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality. ...The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired …
Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The mini …