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Akademický článek

Autism: A Diagnostic Dilemma.

Autor: Zappella, M.

Publikováno v: Neuroscience & Behavioral Physiology; Jan2023, Vol. 53 Issue 1, p34-39, 6p

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Akademický článek

Modeling and Identification of an Electro-Hydrostatic Actuator

Autor: Belloli, D., Previdi, F., Savaresi, S.M., Cologni, A., Zappella, M.

Publikováno v: In IFAC Proceedings Volumes 2010 43(18):620-625

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FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Autor: Ariani, Francesca, Hayek, G., Rondinella, D., Artuso, R., Mencarelli, M. A., Spanhol Rosseto, A., Pollazzon, M., Buoni, S., Spiga, Ottavia, Ricciardi, S., Meloni, Ilaria, Longo, I., Mari, F., Broccoli, V., Zappella, M., Renieri, Alessandra, Mari, Francesca

Publikováno v: The American Journal of Human Genetics. 83:89-93

Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c860a1534e1cc55e34f47e46fcf6ae
https://doi.org/10.1016/j.ajhg.2008.05.015

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Akademický článek

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Akademický článek

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Investigation of modifier genes within copy number variations in Rett syndrome

Autor: Artuso, R, Papa, Ft, Grillo, E, Mucciolo, M, Yasui, Dh, Dunaway, Kw, Disciglio, Vittoria, Mencarelli, Ma, Pollazzon, M, Zappella, M, Hayek, G, Mari, Francesca, Renieri, Alessandra, Lasalle, Jm, Ariani, Francesca, Papa, FILOMENA TIZIANA

Publikováno v: Journal of human genetics, vol 56, iss 7
Journal of human genetics

MECP2 mutations are responsible for two different phenotypes in females, classical Rett syndrome and the milder Zappella variant (Z-RTT). We investigated whether copy number variants (CNVs) may modulate the phenotype by comparison of array-CGH data f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a023822f3649c0c99b874a58796df2a2
https://escholarship.org/uc/item/2gk4142t

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Rett syndrome: revised diagnostic criteria and nomenclature

Autor: Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi Buisson, N., Leonard, H., Bailey, M. E., Schanen, N. C., Zappella, M., Renieri, Alessandra, Huppke, P., Percy, A. K., Rettsearch, Consortium, Mari, Francesca

Publikováno v: Annals of neurology. 68(6)

Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0071d5adee32711416b2e79727d9e914
https://pubmed.ncbi.nlm.nih.gov/21154482

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Rett Syndrome: Revised diagnostic criteria and nomenclature

Autor: Neul, J.L., Kaufmann, W.E., Glaze, D.G., Christodoulou, J., Clarke, A.J., Bahi-Buisson, N., Leonard, H., Bailey, M.E.S., Schanen, N.C., Zappella, M., Renieri, A., Huppke, P., Percy, A.K.

Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::47fe6cc6894bf1386d34cdf63fc00ea8
https://eprints.gla.ac.uk/44344/1/id44344.pdf

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