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Page 1
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Helman G, et al. Among authors: damiani s. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7. Mol Genet Metab. 2015. PMID: 25684057 Free PMC article.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Taft RJ, et al. Among authors: damiani sa. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
Participant-driven matchmaking in the genomic era.
Lambertson KF, Damiani SA, Might M, Shelton R, Terry SF. Lambertson KF, et al. Hum Mutat. 2015 Oct;36(10):965-73. doi: 10.1002/humu.22852. Epub 2015 Aug 27. Hum Mutat. 2015. PMID: 26252162
Toward clinical genomics in everyday medicine: perspectives and recommendations.
Delaney SK, Hultner ML, Jacob HJ, Ledbetter DH, McCarthy JJ, Ball M, Beckman KB, Belmont JW, Bloss CS, Christman MF, Cosgrove A, Damiani SA, Danis T, Delledonne M, Dougherty MJ, Dudley JT, Faucett WA, Friedman JR, Haase DH, Hays TS, Heilsberg S, Huber J, Kaminsky L, Ledbetter N, Lee WH, Levin E, Libiger O, Linderman M, Love RL, Magnus DC, Martland A, McClure SL, Megill SE, Messier H, Nussbaum RL, Palaniappan L, Patay BA, Popovich BW, Quackenbush J, Savant MJ, Su MM, Terry SF, Tucker S, Wong WT, Green RC. Delaney SK, et al. Among authors: damiani sa. Expert Rev Mol Diagn. 2016;16(5):521-32. doi: 10.1586/14737159.2016.1146593. Epub 2016 Feb 24. Expert Rev Mol Diagn. 2016. PMID: 26810587 Free PMC article.
Physical Health and Transition to Psychosis in People at Clinical High Risk.
De Micheli A, Provenzani U, Krakowski K, Oliver D, Damiani S, Brondino N, McGuire P, Fusar-Poli P. De Micheli A, et al. Among authors: damiani s. Biomedicines. 2024 Feb 26;12(3):523. doi: 10.3390/biomedicines12030523. Biomedicines. 2024. PMID: 38540135 Free PMC article.
Accelerating Medicines Partnership® Schizophrenia (AMP® SCZ): Rationale and Study Design of the Largest Global Prospective Cohort Study of Clinical High Risk for Psychosis.
Wannan CMJ, Nelson B, Addington J, Allott K, Anticevic A, Arango C, Baker JT, Bearden CE, Billah T, Bouix S, Broome MR, Buccilli K, Cadenhead KS, Calkins ME, Cannon TD, Cecci G, Chen EYH, Cho KIK, Choi J, Clark SR, Coleman MJ, Conus P, Corcoran CM, Cornblatt BA, Diaz-Caneja CM, Dwyer D, Ebdrup BH, Ellman LM, Fusar-Poli P, Galindo L, Gaspar PA, Gerber C, Glenthøj LB, Glynn R, Harms MP, Horton LE, Kahn RS, Kambeitz J, Kambeitz-Ilankovic L, Kane JM, Kapur T, Keshavan MS, Kim SW, Koutsouleris N, Kubicki M, Kwon JS, Langbein K, Lewandowski KE, Light GA, Mamah D, Marcy PJ, Mathalon DH, McGorry PD, Mittal VA, Nordentoft M, Nunez A, Pasternak O, Pearlson GD, Perez J, Perkins DO, Powers AR 3rd, Roalf DR, Sabb FW, Schiffman J, Shah JL, Smesny S, Spark J, Stone WS, Strauss GP, Tamayo Z, Torous J, Upthegrove R, Vangel M, Verma S, Wang J, Rossum IW, Wolf DH, Wolff P, Wood SJ, Yung AR, Agurto C, Alvarez-Jimenez M, Amminger P, Armando M, Asgari-Targhi A, Cahill J, Carrión RE, Castro E, Cetin-Karayumak S, Mallar Chakravarty M, Cho YT, Cotter D, D'Alfonso S, Ennis M, Fadnavis S, Fonteneau C, Gao C, Gupta T, Gur RE, Gur RC, Hamilton HK, Hoftman GD, Jacobs GR, Jarcho J, Ji JL, Kohler CG, Lalousis PA… See abstract for full author list ➔ Wannan CMJ, et al. Among authors: damiani s. Schizophr Bull. 2024 Apr 30;50(3):496-512. doi: 10.1093/schbul/sbae011. Schizophr Bull. 2024. PMID: 38451304 Free PMC article.
Management of post-mortem examination in SARS-CoV-19 infections.
Riefolo M, Ambrosi F, De Palma A, Gallo C, Damiani S. Riefolo M, et al. Among authors: damiani s. Pathologica. 2023 Oct;115(5):257-262. doi: 10.32074/1591-951X-921. Pathologica. 2023. PMID: 38054900 Free PMC article. Review.
205 results