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TANGO2 deficiency disease is predominantly caused by a lipid imbalance

Author(s): Sacher M; DeLoriea J; Mehranfar M; Casey C; Naaz A; Gamberi C;

TANGO2 deficiency disease (TDD) is a rare genetic disorder estimated to affect ~8000 individuals worldwide. It causes neurodegeneration often accompanied by potentially lethal metabolic crises that are triggered by diet or illness. Recent work has demonstra ...

Article GUID: 38836374


Pan-Canadian caregiver experiences in accessing government disability programs: A mixed methods study

Author(s): Finlay B; Wittevrongel K; Materula D; Hébert ML; O' Grady K; Lach LM; Nicholas D; Zwicker JD; ...

Background: At present, little is known about the factors that contribute to the relatively low uptake of government-funded disability programs in Canada. Aim: Understand how parents/caregivers of ...

Article GUID: 36621140


Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells

Author(s): Asadi P; Milev MP; Saint-Dic D; Gamberi C; Sacher M;

Mutations in the Transport and Golgi Organization 2 (TANGO2) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy and ...

Article GUID: 36502486


Prenatal exposure to polybrominated diphenyl ethers (PBDEs) and cognitive ability in early childhood.

Author(s): Azar N, Booij L, Muckle G, Arbuckle TE, Séguin JR, Asztalos E, Fraser WD, Lanphear BP, Bouchard MF ...

BACKGROUND: Prenatal exposure to polybrominated diphenyl ethers (PBDEs) has been associated with adverse neurodevelopmental outcomes in children, but evidence remains mixed regarding sex difference ...

Article GUID: 33395941


Birth weight is associated with adolescent brain development: A multimodal imaging study in monozygotic twins.

Author(s): Hayward DA, Pomares F, Casey KF, Ismaylova E, Levesque M, Greenlaw K, Vitaro F, Brendgen M, Rénard F, Dionne G, Boivin M, Tremblay RE, Booij ...

Previous research has shown that the prenatal environment, commonly indexed by birth weight (BW), is a predictor of morphological brain development. We previously showed in monozygotic (MZ) twins a ...

Article GUID: 32881198


Birth weight discordance, DNA methylation, and cortical morphology of adolescent monozygotic twins.

Author(s): Casey KF, Levesque ML, Szyf M, Ismaylova E, Verner MP, Suderman M, Vitaro F, Brendgen M, Dionne G, Boivin M, Tremblay RE, Booij L

Hum Brain Mapp. 2017 04;38(4):2037-2050 Authors: Casey KF, Levesque ML, Szyf M, Ismaylova E, Verner MP, Suderman M, Vitaro F, Brendgen M, Dionne G, Boivin M, Tremblay RE, Booij L

Article GUID: 28032437


Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Author(s): Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-D ...

J Med Genet. 2018 Nov;55(11):753-764 Authors: Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri ...

Article GUID: 30120216


TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.

Author(s): Sacher M, Shahrzad N, Kamel H, Milev MP

Traffic. 2019 01;20(1):5-26 Authors: Sacher M, Shahrzad N, Kamel H, Milev MP

Article GUID: 30152084


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