Preferential expression of mutant <it>ABCD1 </it>allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

by Salsano Ettore, Tabano Silvia, Sirchia Silvia M, Colapietro Patrizia, Castellotti Barbara, Gellera Cinzia, Rimoldi Marco, Pensato Viviana, Mariotti Caterina, Pareyson Davide, Miozzo Monica, Uziel Graziella
Published 2012-01-01

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)

by Eichinger Kate, Ramchandren Sindhu, Pagliano Emanuela, Moroni Isabella, Pareyson Davide, Reilly Mary, Muntoni Francesco, Acsadi Gyula, Glanzman Allan, Patzko Agnes, Swingle Polly, Laura Matilde, Hiscock Andy, Estilow Tim, Finkel Richard, Burns Joshua, Ryan Monique, Ouvrier Robert, Shy Michael, Shy Rosemary
Published 2011-05-01