Search Results - "Conde, Cecilia B."

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein by Kowaljow, Valeria, Marcowycz, Aline, Ansseau, Eugénie, Conde, Cecilia B, Sauvage, Sébastien, Mattéotti, Christel, Arias, Cristina, Corona, E. Daniel, Nuñez, Nicolás G, Leo, Oberdan, Wattiez, Ruddy, Figlewicz, Denise, Laoudj-Chenivesse, Dalila, Belayew, Alexandra, Coppée, Frédérique, Rosa, Alberto L

“…Abstract Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy…”
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Editorial: Signaling Proteins for Endosomal and Lysosomal Function by Capelluto, Daniel G S, Conde, Cecilia B, Tumbarello, David A, van den Bogaart, Geert

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myotilin Mutation Found in Second Pedigree with LGMD1A by Hauser, Michael A., Conde, Cecilia B., Kowaljow, Valeria, Zeppa, Guillermo, Taratuto, Ana L., Torian, Udana M., Vance, Jeffery, Pericak-Vance, Margaret A., Speer, Marcy C., Rosa, Alberto L.

“…Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness…”
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Brisk deep-tendon reflexes as a distinctive phenotype in an argentinean spinocerebellar ataxia type 2 pedigree by Rosa, Alberto L., Molina, Irma, Kowaljow, Valeria, Conde, Cecilia B.

“…Slow saccades, postural/intention tremor, peripheral neuropathy, and decreased deep‐tendon reflexes are valuable neurological signs for clinical suspicion of…”
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High-Density Lipoprotein from Hypercholesterolemic Animals Has Peroxidized Lipids and Oligomeric Apolipoprotein A-I: Its Putative Role in Atherogenesis by Artola, Rodolfo L., Conde, Cecilia B., Bagatolli, Luis, Pécora, Rolando P., Fidelio, Gerardo D., Kivatinitz, Silvia C.

“…Oxidized lipoproteins have been involved in the pathogenesis of atherosclerosis and atherosclerotic lesions contain oxidized low density lipoprotein…”
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Identification of an endogenous inhibitor of the UDP-N-acetylgalactosamine : GM3, N-acetylgalactosaminyl transferase as apolipoprotein A1 by CONDE, C. B, GRABOIS, V. R, DEZA, S. N, CAPUTTO, B. L

“…A previously described inhibitor of the UDP-N-acetylgalactosamine: GM3, N-acetylgalactosaminyltransferase (GalNAc-T) (Quiroga et al., 1, 2), was purified from…”
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