Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy von Griggs, Robert C, Miller, J Phillip, Greenberg, Cheryl R, Fehlings, Darcy L, Pestronk, Alan, Mendell, Jerry R, Moxley, Richard T, King, Wendy, Kissel, John T, Cwik, Valerie, Vanasse, Michel, Florence, Julaine M, Pandya, Shree, Dubow, Jordan S, Meyer, James M

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy von Hammouda, El-Hadi, Fardeau, Michel, Varnous, Shaida, Schwartz, Ketty, Urtizberea, Jon-Andoni, Bonne, Gisèle, Merlini, Luciano, Bécane, Henri-Marc, Gary, Françoise, Duboc, Denis, Barletta, Marina Raffaele Di, Greenberg, Cheryl R, Toniolo, Daniela, Muntoni, Francesco

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Limb-Girdle Muscular Dystrophy Type 2H Associated with Mutation in TRIM32, a Putative E3-Ubiquitin–Ligase Gene von Frosk, Patrick, Weiler, Tracey, Nylen, Edward, Sudha, Thangirala, Greenberg, Cheryl R., Morgan, Kenneth, Fujiwara, T. Mary, Wrogemann, Klaus

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Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort von Funk, Christopher B. R., Prasad, Asuri N., Frosk, Patrick, Sauer, Sven, Kölker, Stefan, Greenberg, Cheryl R., Del Bigio, Marc R.

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Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 von Schmidt, Laura S., Warren, Michelle B., Nickerson, Michael L., Weirich, Gregor, Matrosova, Vera, Toro, Jorge R., Turner, Maria L., Duray, Paul, Merino, Maria, Hewitt, Stephen, Pavlovich, Christian P., Glenn, Gladys, Greenberg, Cheryl R., Linehan, W. Marston, Zbar, Berton

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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene von Stanley, Charles A, Lieu, Yen K, Hsu, Betty Y.L, Burlina, Alberto B, Greenberg, Cheryl R, Hopwood, Nancy J, Perlman, Kusiel, Rich, Barry H, Zammarchi, Enrico, Poncz, Mortimer

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Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women von SCHMIDT, Brian J, GREENBERG, Cheryl R, ALLINGHAM-HAWKINS, Diane J, SPRIGGS, Elizabeth L

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Neonatal screening for glutaryl‐CoA dehydrogenase deficiency von Lindner, M., KÖlker, S., Schulze, A., Christensen, E., Greenberg, C. R., Hoffmann, G. F.

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CBFA1 Mutation Analysis and Functional Correlation with Phenotypic Variability in Cleidocranial Dysplasia von Zhou, Guang, Chen, Yuqing, Zhou, Lei, Thirunavukkarasu, Kannan, Hecht, Jacqueline, Chitayat, David, Gelb, Bruce D., Pirinen, Sinikka, Berry, Susan A., Greenberg, Cheryl R., Karsenty, Gerard, Lee, Brendan

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Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome von Hsu, Betty Y.L., Kelly, Andrea, Thornton, Paul S., Greenberg, Cheryl R., Dilling, Louise A., Stanley, Charles A.

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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations von Bonafé, Luisa, Dermitzakis, Emmanouil T, Unger, Sheila, Greenberg, Cheryl R, Campos-Xavier, Belinda A, Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E, Superti-Furga, Andrea, Reymond, Alexandre

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Identical Mutation in Patients with Limb Girdle Muscular Dystrophy Type 2B Or Miyoshi Myopathy Suggests a Role for Modifier Gene(s) von Weiler, Tracey, Bashir, Rumaisa, Anderson, Louise V. B., Davison, Keith, Moss, Jennifer A., Britton, Stephen, Nylen, Edward, Keers, Sharon, Vafiadaki, Elizabeth, Greenberg, Cheryl R., Bushby, Kate M. D., Wrogemann, Klaus

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Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy von Illarioshkin, S N, Ivanova-Smolenskaya, I A, Greenberg, C R, Nylen, E, Sukhorukov, V S, Poleshchuk, V V, Markova, E D, Wrogemann, K

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Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy von INNES, A. M, SEARGEANT, L. E, BALACHANDRA, K, ROE, C. R, WANDERS, R. J. A, RUITER, J. P. N, CASIRO, O, GREWAR, D. A, GREENBERG, C. R

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Hyperornithinemia‐Hyperammonemia‐Homocitrullinuria Syndrome (HHH) Presenting With Acute Fulminant Hepatic Failure von Mhanni, AA, Chan, A, Collison, M, Seifert, B, Lehotay, DC, Sokoro, AH, Huynh, HQ, Greenberg, CR

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Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) von Anderson, Louise V.B, Harrison, Ruth M, Pogue, Robert, Vafiadaki, Elizabeth, Pollitt, Christine, Davison, Keith, Moss, Jennifer A, Keers, Sharon, Pyle, Angela, Shaw, Pamela J, Mahjneh, Ibrahim, Argov, Zohar, Greenberg, Cheryl R, Wrogemann, Klaus, Bertorini, Tulio, Goebel, Hans H, Beckmann, Jacques S, Bashir, Rumaisa, Bushby, Kate M.D

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A Gene for Autosomal Recessive Limb-Girdle Muscular Dystrophy in Manitoba Hutterites Maps to Chromosome Region 9q31-q33: Evidence for Another Limb-Girdle Muscular Dystrophy Locus von Weiler, Tracey, Greenberg, Cheryl R., Zelinski, Teresa, Nylen, Edward, Coghlan, Gail, Crumley, M. Joyce, Fujiwara, T. Mary, Morgan, Kenneth, Wrogemann, Klaus

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Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal Syndrome Has a Mutation in the Cockayne Syndrome Group B ( CSB) Gene von Meira, Lisiane B., Graham, John M., Greenberg, Cheryl R., Busch, David B., Doughty, Ana T.B., Ziffer, Deborah W., Coleman, Donna M., Savre-Train, Isabelle, Friedberg, Errol C.

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Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I von Frosk, Patrick, Del Bigio, Marc R, Wrogemann, Klaus, Greenberg, Cheryl R

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Outcome of the First 3-Years of a DNA-Based Neonatal Screening Program for Glutaric Acidemia Type 1 in Manitoba and Northwestern Ontario, Canada von Greenberg, C.R., Prasad, A.N., Dilling, L.A., Thompson, J.R.G., Haworth, J.C., Martin, B., Wood-Steiman, P., Seargeant, L.E., Seifert, B., Booth, F.A., Prasad, C.

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