Results 91 to 100 of about 1,505 (151)

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough. [PDF]

Cells
Miao KL, Huynh R, Woodley D, Chen M.
europepmc   +1 more source

A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again. [PDF]

Mol Ther
Lentini L, Perriera R, Corrao F, Melfi R, Tutone M, Carollo PS, Fiduccia I, Pace A, Ricci D, Genovese F, Colige A, Delvenne P, Grimbacher B, Moutschen M, Pibiri I.   +14 more
europepmc   +1 more source

Molecular treatment options for patients carrying <i>KIAA0586/TALPID3</i> variants. [PDF]

Mol Ther Nucleic Acids
Taudien JE, Swirski S, Möller M, Jüschke C, Owczarek-Lipska M, Korenke GC, Neidhardt J.   +6 more
europepmc   +1 more source

Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study. [PDF]

Front Genet
Orozco M, Kestler E, Ramirez G, Silva G, Cabrera J, De la Vega S, Al Khleifat A.   +6 more
europepmc   +2 more sources

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]

Nucleic Acids Res
Bhat SY, Bhattacharya A, Li H, Cui X, Lueck JD, Goldman YE, Cooperman BS.   +6 more
europepmc   +1 more source

Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies. [PDF]

CNS Drugs
Balestrini S, Scheffer IE.
europepmc   +1 more source

Treatment with checkpoint inhibitors for unresectable non-metastatic mismatch repair deficient intestinal cancer; a case series. [PDF]

BJC Rep
Figaroa OJA, Spaanderman IT, Goedegebuure RSA, Cirkel GM, Jeurissen FJF, Creemers GJ, Bins AD, Tuynman J, Buffart TE.   +8 more
europepmc   +1 more source

Nonsense-mediated mRNA decay: friend or foe in cancer biology? [PDF]

Cell Commun Signal
Wang Y, He C, Chen C, Ma X, Gao X, Li G, Li T.   +6 more
europepmc   +1 more source

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

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

Proof-of-principle of NF1 gene therapy in plexiform neurofibroma xenograft mouse models. [PDF]

Commun Biol
Hewa Bostanthirige D, Plante C, Caron M, Gascon S, Lévesque M, Poirier C, Deschenes M, Sabo Vatasescu JP, Chabot B, Geha S, Laurent B, Brosseau JP.   +11 more
europepmc   +1 more source