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J Med Genet

From Bioblast
Journals in Bioblast
Journal title and website Journal of Medical Genetics

Publications

 ReferencePublishedView
Beninca 2020 J Med GenetBeninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, Robinson AJ, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, Santos ML, de Souza RL, Fernandez-Vizarra E, Whitworth A, Zeviani M (2020) Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet 58:155-67.2020PMID: 32439808
Gerber 2016 J Med GenetGerber S, Ding MG, Gérard X, Zwicker K, Zanlonghi X, Rio M, Serre V, Hanein S, Munnich A, Rotig A, Bianchi L, Amati-Bonneau P, Elpeleg O, Kaplan J, Brandt U, Rozet JM (2016) Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy. J Med Genet 54:346-56.2016PMID: 28031252
Jackson 2014 J Med GenetJackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautsch M, Häberli A, Gallati S, Schaller A (2014) Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial Complex II deficiency. J Med Genet 51:170-5.2014PMID:24367056
Casasnovas 2010 J Med GenetCasasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martinez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56.2010PMID: 19889647
Casasnovas 2009 J Med GenetCasasnovas C, Banchs I, Cassereau J, Gueguen N, Chevrollier A, Martínez-Matos JA, Bonneau D, Volpini V (2010) Phenotypic spectrum of MFN2 mutations in the Spanish population. J Med Genet 47:249-56.2010PMID: 19889647