Publications by authors named "Alice A Basinger"

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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Alice A Basinger

Genet Med· November 2023

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
M Laura Duque Lasio, Angela C Leshinski, Nicole H Ducich, Leigh Anne Flore, April Lehman, Alice A Basinger

Mol Genet Metab· June 2023

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, Jordan C Wood, Abigail Sveden, Alice A Basinger

Am J Hum Genet· June 2019

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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
Sherine S L Chan, Robert K Naviaux, Alice A Basinger, Kari A Casas, William C Copeland

Mitochondrion· September 2009

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Lee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, Qing Zhang, Eric S Schmitt, Alice A Basinger

Hum Mutat· September 2008

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Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Christian Kranz, Alice A Basinger, Müge Güçsavaş-Calikoğlu, Liangwu Sun, Cynthia M Powell

Am J Med Genet A· June 2007

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Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina.
Alice A Basinger, Jessica K Booker, Dianne M Frazier, Dwight D Koeberl, Jennifer A Sullivan

Mol Genet Metab· May 2006

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