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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

опубліковано в: American Journal of Human Genetics

дата публікації: 2012-11-21

мова: англійська мова

Cites articles 9

Дата

Заголовок

Автори

2012-01-26

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Thomas Meitinger, Andrea Superti-Furga, Eleonora Lamantea, Janbernd Kirschner, Johannes A Mayr, Matthias R Baumgartner, Holger Prokisch, Richard J Rodenburg, Massimo Zeviani, Isabella Moroni, Isabella Moroni, Tobias B Haack, Thomas Wieland, Tim M Strom, Wolfgang Sperl, Birgit Haberberger
2011-09-15

Neuroimaging features of neurodegeneration with brain iron accumulation

Nathalie Boddaert, Kailash Phatechand Bhatia
2011-06-01

Genetics of neurodegeneration with brain iron accumulation
2010-06-20

Network organization of the human autophagy system

Jeffrey W. Harper, Steven P. Gygi
2009-02

Clinical and genetic delineation of neurodegeneration with brain iron accumulation
2004-12-16

WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy

Tassula Proikas-Cezanne, Andrei N. Lupas
2003

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
2001-12

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases
1992-12-01

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

Гуда Зогбі

Стаття - wd:Q34313397

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