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Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy

Dominik M. Haddad Sven Vilain; Melissa Vos; Giovanni Esposito; Samer Matta; Vera M Kalscheuer; Katleen Craessaerts; Maarten Leyssen; Rafaella M. P Nascimento; Angela M Vianna-Morgante; Bart De Strooper; Hilde Van Esch; Vanessa A Morais; Patrik Verstreken

Molecular Cell Cambridge v. 50, n. 6, p. 831-843, June 2013

Cambridge 2013

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Conference Paper
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Functional analysis of UBE2A C.382C-T mutation insight into the mechanisms leading to mental retardation

R. M. P. Nascimento G Monteiro; N. M Vieira; Luis Eduardo Soares Netto; Angela M Vianna-Morgante; International Workshop on Fragile X and X-Linked Mental Retardation (14. 2009 Salvador, BA, Brasil)

Abstract Salvador, 2009

Salvador 2009

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UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

Rafaela Maria Pessutti Nascimento Paulo A Otto; Arjan P. M Brouwer; Angela M Vianna-Morgante

American Journal of Human Genetics n. 79, n. 3, p. 549-555, 2006

Baltimore 2006

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Article
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UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

Rafaela Maria Pessutti Nascimento Paulo Alberto Otto; Arjan P. M Brouwer; Angela Maria Vianna-Morgante

American Journal of Human Genetics n. 79, n. 3, p. 549-555, 2006

Baltimore 2006

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5
Material Type:
Conference Paper
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Cryptic genomic imbalances as a cause of syndromic X-linked mental retardation

Angela Maria Vianna-Morgante J Knijnenburg; Paulo Alberto Otto; Ana Cristina Victorino Krepischi-Santos; R. M. P Nascimento; C Rosenberg; Annual Meeting of the American Society of Human Genetics (55. 2005 Salt Lake City)

Abstract Salt Lake City, 2005

Salt Lake City 2005

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Conference Paper
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Cryptic genomic imbalances as a cause of syndromic X-linked mental retardation

Angela Maria Vianna-Morgante Jeroen Knijnenburg; Paulo Alberto Otto; Ana Cristina Victorino Krepischi-Santos; Rafaella Maria Pessutti Nascimento; Carla Rosenberg; International Workshop on Fragile X and X-Linked Mental Retardation (12. 2005 Williamsburg)

Abstract Williamsburg, 2005

Williamsburg 2005

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