Search Results - "Malkin, Elfrida"

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations by Chen, Chun-An, Bosch, Daniëlle G.M., Cho, Megan T., Rosenfeld, Jill A., Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G., Elmslie, Frances, Douglas, Ganka, Boonstra, F. Nienke, Millan, Francisca, Cremers, Frans P.M., McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K., Niyazov, Dmitriy, Pascual, Juan M., Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M., de Vries, Bert B.A., Schaaf, Christian

“…Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by…”
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CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations by Chen, Chun-An, Bosch, Daniëlle G M, Cho ScM, Megan T, Rosenfeld, Jill A, Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G, Elmslie, Frances, Douglas, Ganka, Boonstra, F Nienke, Millan, Francisca, Cremers, Frans P M, McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K, Niyazov, Dmitriy, Pascual, Juan M, Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M, de Vries, Bert B A, Schaaf, Christian

“…This corrects the article DOI: 10.1038/gim.2016.18…”
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Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations by Chen, Chun-An, Bosch, Daniëlle G M, Cho ScM, Megan T, Rosenfeld, Jill A, Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G, Elmslie, Frances, Douglas, Ganka, Boonstra, F Nienke, Millan, Francisca, Cremers, Frans P M, McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K, Niyazov, Dmitriy, Pascual, Juan M, Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M, de Vries, Bert B A, Schaaf, Christian

“…Genet Med 18: 1143–1150; doi:10.1038/gim.2016.18 In the originally published article, the x axis of figure 1b was incorrectly labeled. The correct figure…”
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Adult-onset MELAS presenting as herpes encephalitis by Sharfstein, S R, Gordon, M F, Libman, R B, Malkin, E S

“…To report an unusual presentation of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) manifested in late life with a clinical…”
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Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA by Pancrudo, Jacklyn, Shanske, Sara, Bonilla, Eduardo, Daras, Mariza, Akman, Hasan O., Krishna, Sindu, Malkin, Elfrida, DiMauro, Salvatore

“…A 14-year-old boy had exercise intolerance, weakness, ataxia, and lactic acidosis. Because his muscle biopsy showed a mosaic pattern of fibers staining…”
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A novel mutation in the mitochondrial DNA transfer ribonucleic acid(ASP) gene in a child with myoclonic epilepsy and psychomotor regression by Shtibans, Alexander, El-Schahawi, Magda, Malkin, Elfrida, Shanske, Sara

“…A novel A7543G mutation was found in the mitochondrial DNA transfer ribonucleic acidAsp gene in an 11-year-old girl with myoclonic seizures, developmental…”
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A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidAsp Gene in a Child With Myoclonic Epilepsy and Psychomotor Regression by Shtilbans, Alexander, El-Schahawi, Magda, Malkin, Elfrida, Shanske, Sara, Musumeci, Olimpia, DiMauro, Salvatore

“…A novel A7543G mutation was found in the mitochondrial DNA transfer ribonucleic acidAsp gene in an 11-year-old girl with myoclonic seizures, developmental…”
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