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m ridolfi[Author]
(47 results)?
Postural strategies in Prader-Willi and Down syndrome patients.
Res Dev Disabil. 2011 Mar-Apr;32(2):669-73. doi: 10.1016/j.ridd.2010.11.017. Epub 2010 Dec 18.
Res Dev Disabil. 2011.
PMID: 21168992
They were instructed to maintain an upright standing position on a force platform for 30s with open eyes (OE) and we calculated the range of center of pressure (CoP) displacement in the A/P direction (RANGE(AP)) and in the M/L direction (RANGE(ML)) and the total CoP trajec …
They were instructed to maintain an upright standing position on a force platform for 30s with open eyes (OE) and we calculated the range of …
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.
Caciotti A, et al. Among authors: rigoldi m.
Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.
Hum Mutat. 2015.
PMID: 25545067
In addition, we characterized the new GALNS intronic lesion c.245-11C>G causing m-RNA defects, although identified outside the GT/AG splice pair. ...
In addition, we characterized the new GALNS intronic lesion c.245-11C>G causing m-RNA defects, although identified outside the GT/ …
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Enzymatic replacement therapy for Hunter disease: Up to 9 years experience with 17 patients.
Parini R, Rigoldi M, Tedesco L, Boffi L, Brambilla A, Bertoletti S, Boncimino A, Del Longo A, De Lorenzo P, Gaini R, Gallone D, Gasperini S, Giussani C, Grimaldi M, Grioni D, Meregalli P, Messinesi G, Nichelli F, Romagnoli M, Russo P, Sganzerla E, Valsecchi G, Biondi A.
Parini R, et al. Among authors: rigoldi m.
Mol Genet Metab Rep. 2015 Apr 22;3:65-74. doi: 10.1016/j.ymgmr.2015.03.011. eCollection 2015 Jun.
Mol Genet Metab Rep. 2015.
PMID: 26937399
Free PMC article.
Heart parameters improved, in particular the left ventricular mass index/m(2) decreased significantly. Amelioration of hearing was seen in many patients. ...
Heart parameters improved, in particular the left ventricular mass index/m(2) decreased significantly. Amelioration of hearing was se …
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