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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 499, doi. 10.1002/humu.23723
By:
- Ganetzky, Rebecca D.;
- Stendel, Claudia;
- McCormick, Elizabeth M.;
- Zolkipli‐Cunningham, Zarazuela;
- Goldstein, Amy C.;
- Klopstock, Thomas;
- Falk, Marni J.
Publication type:
Article
Characterization of the renal phenotype in RMND1‐related mitochondrial disease.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
By:
- Shayota, Brian J.;
- Le, Nhon T.;
- Bekheirnia, Nasim;
- Rosenfeld, Jill A.;
- Goldstein, Amy C.;
- Moritz, Michael;
- Bartholomew, Dennis W.;
- Pastore, Matthew T.;
- Xia, Fan;
- Eng, Christine;
- Yang, Yaping;
- Lamb, Dolores J.;
- Scaglia, Fernando;
- Braun, Michael C.;
- Bekheirnia, Mir Reza
Publication type:
Article
BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.
Published in:
Acta Neuropathologica, 2022, v. 143, n. 4, p. 505, doi. 10.1007/s00401-022-02411-w
By:
- Li, Rui;
- Tang, Hao;
- Burns, Jeremy C.;
- Hopkins, Brian T.;
- Le Coz, Carole;
- Zhang, Bo;
- de Barcelos, Isabella Peixoto;
- Romberg, Neil;
- Goldstein, Amy C.;
- Banwell, Brenda L.;
- Luning Prak, Eline T.;
- Mingueneau, Michael;
- Bar-Or, Amit
Publication type:
Article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
Published in:
PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
By:
- Gustafson, Margaret A.;
- McCormick, Elizabeth M.;
- Perera, Lalith;
- Longley, Matthew J.;
- Bai, Renkui;
- Kong, Jianping;
- Dulik, Matthew;
- Shen, Lishuang;
- Goldstein, Amy C.;
- McCormack, Shana E.;
- Laskin, Benjamin L.;
- Leroy, Bart P.;
- Ortiz-Gonzalez, Xilma R.;
- Ellington, Meredith G.;
- Copeland, William C.;
- Falk, Marni J.
Publication type:
Article
Autism and inborn errors of metabolism: how much is enough?
Published in:
Developmental Medicine & Child Neurology, 2015, v. 57, n. 9, p. 788, doi. 10.1111/dmcn.12771
By:
- Asato, Miya R;
- Goldstein, Amy C;
- Schiff, Manuel
Publication type:
Article
Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis.
Published in:
Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.adk0865
By:
- Li, Rui;
- Lei, Yanting;
- Rezk, Ayman;
- Diego A. Espinoza;
- Wang, Jing;
- Feng, Huiru;
- Zhang, Bo;
- Barcelos, Isabella P.;
- Zhang, Hang;
- Yu, Jing;
- Huo, Xinrui;
- Zhu, Fangyi;
- Yang, Changxin;
- Tang, Hao;
- Goldstein, Amy C.;
- Banwell, Brenda L.;
- Hakonarson, Hakon;
- Xu, Hongwei;
- Mingueneau, Michael;
- Sun, Bo
Publication type:
Article
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 365, doi. 10.1002/ajmg.a.61433
By:
- Wild, K. Taylor;
- Goldstein, Amy C.;
- Muraresku, Colleen;
- Ganetzky, Rebecca D.
Publication type:
Article

Found: 7

MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Characterization of the renal phenotype in RMND1‐related mitochondrial disease.

BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

Autism and inborn errors of metabolism: how much is enough?

Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis.

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.