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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

636 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F, Ambrosini E, Marchese M, Sforna L, Servettini I, Valvo G, Brignone MS, Lanciotti A, Moro F, Grottesi A, Catacuzzeno L, Baldini S, Hasan S, D'Adamo MC, Franciolini F, Molinari P, Santorelli FM, Pessia M. Sicca F, et al. Among authors: santorelli fm. Sci Rep. 2016 Sep 28;6:34325. doi: 10.1038/srep34325. Sci Rep. 2016. PMID: 27677466 Free PMC article.
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: santorelli fm. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
Somatic overgrowth predisposes to seizures in autism spectrum disorders.
Valvo G, Baldini S, Brachini F, Apicella F, Cosenza A, Ferrari AR, Guerrini R, Muratori F, Romano MF, Santorelli FM, Tancredi R, Sicca F. Valvo G, et al. Among authors: santorelli fm. PLoS One. 2013 Sep 23;8(9):e75015. doi: 10.1371/journal.pone.0075015. eCollection 2013. PLoS One. 2013. PMID: 24086423 Free PMC article.
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo C, Moro F, Astrea G, Morales MA, Baldacci J, Marchese M, Scapolan S, Bruno C, Battini R, Santorelli FM. Fiorillo C, et al. Among authors: santorelli fm. Neuromuscul Disord. 2013 Dec;23(12):1010-5. doi: 10.1016/j.nmd.2013.09.010. Epub 2013 Oct 1. Neuromuscul Disord. 2013. PMID: 24144914
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.
Ambrosini E, Sicca F, Brignone MS, D'Adamo MC, Napolitano C, Servettini I, Moro F, Ruan Y, Guglielmi L, Pieroni S, Servillo G, Lanciotti A, Valvo G, Catacuzzeno L, Franciolini F, Molinari P, Marchese M, Grottesi A, Guerrini R, Santorelli FM, Priori S, Pessia M. Ambrosini E, et al. Among authors: santorelli fm. Hum Mol Genet. 2014 Sep 15;23(18):4875-86. doi: 10.1093/hmg/ddu201. Epub 2014 May 2. Hum Mol Genet. 2014. PMID: 24794859 Free PMC article.
636 results