Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2023 1
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Cerebellar dysfunction with variable cognitive and behavioral abnormalities"
Page 1
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM. Brancati F, et al. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Orphanet J Rare Dis. 2010. PMID: 20615230 Free PMC article. Review.
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndrome), distinct cerebellar and brainstem congenital defects and disorders with cerebro-oculo-renal manifestations. ...Optimal management requires a mult …
Differential diagnosis must consider in particular the other ciliopathies (such as nephronophthisis and Senior-Loken syndrome), distinct …
CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes.
Sorrentino U, Boesch S, Doummar D, Ravelli C, Serranova T, Indelicato E, Winkelmann J, Burglen L, Jech R, Zech M. Sorrentino U, et al. J Neurol. 2024 May;271(5):2859-2865. doi: 10.1007/s00415-024-12271-x. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38441608 Free PMC article.
Several different clinical manifestations, affecting neurodevelopmental and systemic domains, have been described, presenting with highly variable expressivity. Some expressions are well established and comprise autism spectrum disorders, psychomotor delay with cognitiv …
Several different clinical manifestations, affecting neurodevelopmental and systemic domains, have been described, presenting with highly …
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.
Butti N, Oldrati V, Ferrari E, Romaniello R, Gagliardi C, Borgatti R, Urgesi C. Butti N, et al. Cerebellum. 2024 Apr;23(2):579-588. doi: 10.1007/s12311-023-01580-y. Epub 2023 Jun 23. Cerebellum. 2024. PMID: 37351729
The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressi …
The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive ma …