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The Lancet. Neurology|August 9, 2011
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyAnu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, et al.Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.Annals of Clinical and Translational Neurology|October 18, 2021
Expanding the phenotypic spectrum of BCS1L-related mitochondrial diseaseOmar Hikmat, Pirjo Isohanni, Nandaki Keshavan, et al.Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.Orphanet Journal of Rare Diseases|February 15, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsVeerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, et al.American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.Annals of Neurology|December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesRoeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 28, 2022
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGeorg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, et al.Human Mutation|January 4, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-functionGillian I Rice, Sehoon Park, Francesco Gavazzi, et al.Pageof 10