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Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R, Rocca C, Suri M, Gulieva S, Zaki MS, Henig NZ, Siquier K, Guliyeva U, Mounir SM, Marom D, Allahverdiyeva A, Megahed H, van Bokhoven H, Cantagrel V, Rad A, Pourkeramti A, Dehghani B, Shao DD, Markus-Bustani K, Sofrin-Drucker E, Orenstein N, Salayev K, Arrigoni F, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: arrigoni f. Ann Clin Transl Neurol. 2022 Jul;9(7):1080-1089. doi: 10.1002/acn3.51602. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684946 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: arrigoni f. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA-Ataxia Working Group.
Harding IH, Chopra S, Arrigoni F, Boesch S, Brunetti A, Cocozza S, Corben LA, Deistung A, Delatycki M, Diciotti S, Dogan I, Evangelisti S, França MC Jr, Göricke SL, Georgiou-Karistianis N, Gramegna LL, Henry PG, Hernandez-Castillo CR, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lodi R, Manners DN, Martinez ARM, Martinuzzi A, Marzi C, Mascalchi M, Nachbauer W, Pane C, Peruzzo D, Pisharady PK, Pontillo G, Reetz K, Rezende TJR, Romanzetti S, Saccà F, Scherfler C, Schulz JB, Stefani A, Testa C, Thomopoulos SI, Timmann D, Tirelli S, Tonon C, Vavla M, Egan GF, Thompson PM. Harding IH, et al. Among authors: arrigoni f. Ann Neurol. 2021 Oct;90(4):570-583. doi: 10.1002/ana.26200. Epub 2021 Sep 17. Ann Neurol. 2021. PMID: 34435700 Free PMC article.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: arrigoni f. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
Prenatal MR imaging of the normal pituitary stalk.
Righini A, Parazzini C, Doneda C, Arrigoni F, Triulzi F. Righini A, et al. Among authors: arrigoni f. AJNR Am J Neuroradiol. 2009 May;30(5):1014-6. doi: 10.3174/ajnr.A1481. Epub 2009 Feb 4. AJNR Am J Neuroradiol. 2009. PMID: 19193754 Free PMC article.
260 results