Results 241 to 250 of about 199,160 (290)

Therapeutic options for Duchenne muscular dystrophy: hope or hype? [PDF]

Ther Adv Neurol Disord
Mah JK.
europepmc   +1 more source

Characteristic spatial and frequency distribution of mutations in SCN1A. [PDF]

Acta Epileptol
Zhang M, Guo J, Li B, Liu K, Zhao J, Zhang J, Lin X, Tang B, Wang J, Liao W, He N.   +10 more
europepmc   +1 more source

Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants. [PDF]

Exp Dermatol
Bolling MC, Vermeer MCSC.
europepmc   +1 more source

A Short-Term View of Protein Sequence Evolution from Salmonella. [PDF]

Genome Biol Evol
Cherry JL.
europepmc   +1 more source

Translation elongation defects activate the <i>Caenorhabditis elegans</i> ZIP-2 bZIP transcription factor-mediated toxin defense. [PDF]

Proc Natl Acad Sci U S A
Kniazeva M, Ruvkun G.
europepmc   +1 more source

mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs). [PDF]

Nucleic Acids Res
Susorov D, Echeverria D, Khvorova A, Korostelev AA.   +3 more
europepmc   +1 more source

Severe Darier's Disease by Mitochondrial DNA Insertion Causing Nonsense Mutations: In Silico Prediction of a Pathophysiological Mechanism to a Novel Mutation. [PDF]

Exp Dermatol
Shintani H, Ikuno Y, Kokubu H, Fujimoto S, Yamaguchi A, Takahashi T, Arakawa A, Kande Y, Naka-Kaneda H, Fujimoto N.   +9 more
europepmc   +1 more source

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy. [PDF]

Drugs R D
Bello L, Riguzzi P, Albamonte E, Astrea G, Battini R, Barp A, Berardinelli AL, Bertini ES, Brolatti N, Bruno C, Corti S, D'Amico A, D'Angelo MG, Dallavalle G, Liguori R, Maggi L, Magri F, Mancuso M, Masson R, Mercuri E, Minetti C, Messina S, Mongini T, Musumeci O, Nigro V, Pane M, Panicucci C, Pedemonte M, Pini A, Politano L, Previtali S, Ricci F, Ricci G, Ruggiero L, Sansone V, Siciliano G, Trabacca A, Trucco F, Velardo D, Pegoraro E, Comi GP.   +40 more
europepmc   +1 more source

Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR. [PDF]

JCEM Case Rep
Yamamoto S, Nakajima H, Okada H, Nakanishi N, Hamaguchi M, Fukui M.   +5 more
europepmc   +1 more source

Misincorporations of amino acids in p53 in human cells at artificially constructed termination codons in the presence of the aminoglycoside Gentamicin. [PDF]

Front Genet
Pawlicka K, Henek T, Uhrik L, Hernychova L, Padariya M, Faktor J, Makowiec S, Vojtesek B, Goodlett D, Hupp T, Kalathiya U.   +10 more
europepmc   +1 more source