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"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Gana S, Rossetto G, Garau J, Vacchini V, Ferraro F, Rognone E, Pichiecchio A, Gasperini S, Valente EM, Orcesi S. Gana S, et al. Among authors: orcesi s. Mov Disord Clin Pract. 2024 Nov;11(11):1454-1457. doi: 10.1002/mdc3.14190. Epub 2024 Aug 14. Mov Disord Clin Pract. 2024. PMID: 39140302 Free PMC article. No abstract available.
Cerebral cavernous angiomas: an atypical case in infancy.
Lanzi G, Fazzi E, Orcesi S, Cavallini A, Danova S, Uggetti C, Egitto MG. Lanzi G, et al. Among authors: orcesi s. Childs Nerv Syst. 1997 Jul;13(7):412-4. doi: 10.1007/s003810050110. Childs Nerv Syst. 1997. PMID: 9298278
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS,… See abstract for full author list ➔ Rice G, et al. Among authors: orcesi s. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 Sep 4. Am J Hum Genet. 2007. PMID: 17846997 Free PMC article.
166 results