Search Results - "Ruzzo, E"

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum by Heimer, G., Marek-Yagel, D., Eyal, E., Barel, O., Oz Levi, D., Hoffmann, C., Ruzzo, E.K., Ganelin-Cohen, E., Lancet, D., Pras, E., Rechavi, G., Nissenkorn, A., Anikster, Y., Goldstein, D.B., Ben Zeev, B.

“…Two unrelated patients, presenting with significant global developmental delay, severe progressive microcephaly, seizures, spasticity and thin corpus callosum…”
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Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin by Heimer, G., Eyal, E., Zhu, X., Ruzzo, E.K., Marek-Yagel, D., Sagiv, Doron, Anikster, Y., Reznik-Wolf, H., Pras, E., Oz Levi, D., Lancet, D., Ben-Zeev, B., Nissenkorn, A.

“…AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in…”
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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy by HANNIBAL, M. C, RUZZO, E. K, BEDFORD, H. M, WORRALL, B. B, LOVITT, S, APPEL, S. H, ANDERMANN, E, BIRD, T. D, CHANCE, P. F, MILLER, L. R, BETZ, B, BUCHAN, J. G, KNUTZEN, D. M, BARNETT, K, LANDSVERK, M. L, BRICE, A, LEGUERN, E

“…Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder that manifests as recurrent, episodic, painful brachial neuropathies. A gene for HNA…”
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Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy by Collie, A M B, Landsverk, M L, Ruzzo, E, Mefford, H C, Buysse, K, Adkins, J R, Knutzen, D M, Barnett, K, Brown, Jr, R H, Parry, G J, Yum, S W, Simpson, D A, Olney, R K, Chinnery, P F, Eichler, E E, Chance, P F, Hannibal, M C

“…Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be…”
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Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks by Ruzzo, Elizabeth K., Pérez-Cano, Laura, Jung, Jae-Yoon, Wang, Lee-kai, Kashef-Haghighi, Dorna, Hartl, Chris, Singh, Chanpreet, Xu, Jin, Hoekstra, Jackson N., Leventhal, Olivia, Leppä, Virpi M., Gandal, Michael J., Paskov, Kelley, Stockham, Nate, Polioudakis, Damon, Lowe, Jennifer K., Prober, David A., Geschwind, Daniel H., Wall, Dennis P.

“…We performed a comprehensive assessment of rare inherited variation in autism spectrum disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals…”
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The testimonial nature of multidisciplinary team interviews in Massachusetts: applying Crawford to the child declarant by Ruzzo, Laura E

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