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

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Among authors: rubio agusti i. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP. Stamelou M, et al. Among authors: rubio agusti i. Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17. Mov Disord. 2014. PMID: 24442708 Free PMC article.
Expanding the Phenotype and Genetic Defects Associated with the GOSR2 Gene.
Praschberger R, Balint B, Mencacci NE, Hersheson J, Rubio-Agusti I, Kullmann DM, Bettencourt C, Bhatia K, Houlden H. Praschberger R, et al. Among authors: rubio agusti i. Mov Disord Clin Pract. 2015 Jun 17;2(3):271-273. doi: 10.1002/mdc3.12190. eCollection 2015 Sep. Mov Disord Clin Pract. 2015. PMID: 30363482 Free PMC article.
Rest and other types of tremor in adult-onset primary dystonia.
Erro R, Rubio-Agusti I, Saifee TA, Cordivari C, Ganos C, Batla A, Bhatia KP. Erro R, et al. Among authors: rubio agusti i. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):965-8. doi: 10.1136/jnnp-2013-305876. Epub 2013 Nov 18. J Neurol Neurosurg Psychiatry. 2014. PMID: 24249781 Free PMC article.
The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
Kojovic M, Pareés I, Lampreia T, Pienczk-Reclawowicz K, Xiromerisiou G, Rubio-Agusti I, Kramberger M, Carecchio M, Alazami AM, Brancati F, Slawek J, Pirtosek Z, Valente EM, Alkuraya FS, Edwards MJ, Bhatia KP. Kojovic M, et al. Mov Disord. 2013 Jun;28(6):795-803. doi: 10.1002/mds.25394. Epub 2013 Feb 15. Mov Disord. 2013. PMID: 23418071
The brighter side of music in dystonia.
Kojovic M, Pareés I, Sadnicka A, Kassavetis P, Rubio-Agusti I, Saifee TA, Bologna M, Rothwell JC, Edwards MJ, Bhatia KP. Kojovic M, et al. Arch Neurol. 2012 Jul;69(7):917-9. doi: 10.1001/archneurol.2012.33. Arch Neurol. 2012. PMID: 22431838
24 results