Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
29 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.
Rosewich H, et al. Among authors: carrilho i.
Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.
Neurology. 2014.
PMID: 24523486
Item in Clipboard
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM.
Jaffer F, et al. Among authors: carrilho i.
Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21.
Brain. 2015.
PMID: 26297560
Free PMC article.
Item in Clipboard
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ.
Gregory A, et al. Among authors: carrilho i.
Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17.
Neurology. 2008.
PMID: 18799783
Free PMC article.
Item in Clipboard
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P.
Temudo T, et al. Among authors: carrilho i.
Brain Dev. 2011 Jan;33(1):69-76. doi: 10.1016/j.braindev.2010.01.004. Epub 2010 Feb 8.
Brain Dev. 2011.
PMID: 20116947
Free article.
Item in Clipboard
Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Santos M, Temudo T, Kay T, Carrilho I, Medeira A, Cabral H, Gomes R, Lourenço MT, Venâncio M, Calado E, Moreira A, Oliveira G, Maciel P.
Santos M, et al. Among authors: carrilho i.
J Child Neurol. 2009 Jan;24(1):49-55. doi: 10.1177/0883073808321043.
J Child Neurol. 2009.
PMID: 19168818
Free article.
Item in Clipboard
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P.
Temudo T, et al. Among authors: carrilho i.
Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78.
Neurology. 2007.
PMID: 17420401
Item in Clipboard
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group.
Heinzen EL, et al.
Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0.
Lancet Neurol. 2014.
PMID: 24739246
Free PMC article.
Review.
Item in Clipboard
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM.
Balestrini S, et al. Among authors: carrilho i.
Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10.
Neurology. 2020.
PMID: 32913013
Free PMC article.
Item in Clipboard
Chronic inflammatory demyelinating polyneuropathy associated with autoimmune hepatitis.
Domingos JP, Garrido C, Moreira Silva H, Monteiro C, Silva ES, Figueiroa S, Carrilho IC.
Domingos JP, et al. Among authors: carrilho ic.
Pediatr Neurol. 2014 Sep;51(3):e13-4. doi: 10.1016/j.pediatrneurol.2014.04.017. Epub 2014 Apr 18.
Pediatr Neurol. 2014.
PMID: 25160557
No abstract available.
Item in Clipboard
Cite
29
results
Cite