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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Dec 5, 2023. (Total: 223688Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Myoclonic Epilepsy With Ragged Red Fibers[original query]
Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
Chinese medical journal 2002 1 114 (12): 1273-5.
Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Neurology 2013 May 80 (22): 2049-54.
Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Carelli Valerio, Comi Giacomo Pietro, Minetti Carlo, Moggio Maurizio, Mongini Tiziana, Servidei Serenella, Tonin Paola, Toscano Antonio, Uziel Graziella, Bruno Claudio, Caldarazzo Ienco Elena, Filosto Massimiliano, Lamperti Costanza, Martinelli Diego, Moroni Isabella, Musumeci Olimpia, Pegoraro Elena, Ronchi Dario, Santorelli Filippo Maria, Sauchelli Donato, Scarpelli Mauro, Sciacco Monica, Spinazzi Marco, Valentino Maria Lucia, Vercelli Liliana, Zeviani Massimo, Siciliano Gabrie
Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Neurology 2020 10 96 (2): e241-e249.
Primiano Guido, Brunetti Valerio, Vollono Catello, Losurdo Anna, Moroni Rossana, Della Marca Giacomo, Servidei Serenel
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene.
Molecular syndromology 2022 9 13 (4): 305-317.
Mara? Genç Hülya, Akp?nar Gürler, Kasap Murat, Uyur Yalç?n Emek, Üstek Duran, Aslanger Ayça Dilruba, Kara Büle
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