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Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Published in:
Journal of Child Neurology, 2018, v. 33, n. 6, p. 397, doi. 10.1177/0883073818764941
By:
- Ejaz, Resham;
- Chen, Shiyi;
- Isaacs, Charles J.;
- Carnevale, Amanda;
- Wilson, Judith;
- George, Kristen;
- Delatycki, Martin B.;
- Perlman, Susan L.;
- Mathews, Katherine D.;
- Wilmot, George R.;
- Hoyle, J. Chad;
- Subramony, Sub H.;
- Zesiewicz, Theresa;
- Farmer, Jennifer M.;
- Lynch, David R.;
- Yoon, Grace
Publication type:
Article
Reply: IREB2-associated neurodegeneration.
Published in:
2019
By:
- Maio, Nunziata;
- Ghosh, Manik C;
- Costain, Gregory;
- Carnevale, Amanda;
- Si, Yue;
- Yoon, Grace;
- Rouault, Tracey A
Publication type:
Letter
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
Published in:
2019
By:
- Costain, Gregory;
- Ghosh, Manik C;
- Maio, Nunziata;
- Carnevale, Amanda;
- Si, Yue C;
- Rouault, Tracey A;
- Yoon, Grace
Publication type:
journal article
A Case-Control Study of Maternal Polybrominated Diphenyl Ether (PBDE) Exposure and Cryptorchidism in Canadian Populations.
Published in:
Environmental Health Perspectives, 2017, v. 125, n. 5, p. 1, doi. 10.1289/EHP522
By:
- Goodyer, Cynthia G.;
- Poon, Shirley;
- Aleksa, Katarina;
- Hou, Laura;
- Atehortua, Veronica;
- Carnevale, Amanda;
- Jednak, Roman;
- Emil, Sherif;
- Bagli, Darius;
- Dave, Sumit;
- Hales, Barbara F.;
- Chevrier, Jonathan
Publication type:
Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
By:
- Leveille, Etienne;
- Gonorazky, Hernan D.;
- Rioux, Marie‐France;
- Hazrati, Lili‐Naz;
- Ruskey, Jennifer A.;
- Carnevale, Amanda;
- Spiegelman, Dan;
- Dionne‐Laporte, Alexandre;
- Rouleau, Guy A.;
- Yoon, Grace;
- Gan‐Or, Ziv
Publication type:
Article
Association of In Utero Exposure to Polybrominated Diphenyl Ethers With the Risk of Hypospadias.
Published in:
JAMA Pediatrics, 2018, v. 172, n. 9, p. 851, doi. 10.1001/jamapediatrics.2018.1492
By:
- Poon, Shirley;
- Koren, Gideon;
- Carnevale, Amanda;
- Aleksa, Katarina;
- Ling, Juejing;
- Ozsarfati, Jak;
- Kapur, Bhushan M.;
- Bagli, Darius
Publication type:
Article
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibility.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-48549-x
By:
- Khan, Debjit;
- Ramachandiran, Iyappan;
- Vasu, Kommireddy;
- China, Arnab;
- Khan, Krishnendu;
- Cumbo, Fabio;
- Halawani, Dalia;
- Terenzi, Fulvia;
- Zin, Isaac;
- Long, Briana;
- Costain, Gregory;
- Blaser, Susan;
- Carnevale, Amanda;
- Gogonea, Valentin;
- Dutta, Ranjan;
- Blankenberg, Daniel;
- Yoon, Grace;
- Fox, Paul L.
Publication type:
Article

Found: 7

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

Reply: IREB2-associated neurodegeneration.

Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

A Case-Control Study of Maternal Polybrominated Diphenyl Ether (PBDE) Exposure and Cryptorchidism in Canadian Populations.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Association of In Utero Exposure to Polybrominated Diphenyl Ethers With the Risk of Hypospadias.

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m<sup>6</sup>A site accessibility.