Results 101 to 110 of about 658 (148)

Small populations, big impact: leveraging rare disease gene therapies to benefit millions. [PDF]

J Clin Invest
Cherqui S.
europepmc   +1 more source

mGem: AAV, from almost a virus to an awesome vector-or is it? [PDF]

mBio
Srivastava A.
europepmc   +1 more source

PI3KC2β depletion rescues endosomal trafficking defects in Mtm1 knockout skeletal muscle cells. [PDF]

J Lipid Res
Mansat M, Kpotor AO, Mazars A, Chicanne G, Payrastre B, Viaud J.   +5 more
europepmc   +1 more source

Deaths in gene therapy of Duchenne muscular dystrophy and other diseases: Underlying mechanisms and mitigating strategies. [PDF]

Mol Ther
Duan D, Herzog RW.
europepmc   +1 more source

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement. [PDF]

Intern Med
Takeuchi Y, Masuda T, Kimura N, Sumi K, Jikumaru M, Eura N, Nishino I, Matsubara E.   +7 more
europepmc   +1 more source

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Hu Y, Huang X.
europepmc   +1 more source

Females with X-Linked Muscle Disorders: an underestimated patient population. [PDF]

Acta Myol
Politano L.
europepmc   +1 more source

Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease. [PDF]

ACG Case Rep J
Abi Radi Abou Jaoudeh R, McCleary B, Radhakrishnan K.   +2 more
europepmc   +1 more source

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle Function. [PDF]

Cell Mol Gastroenterol Hepatol
Iyer A, Alizadeh M, Mariano JM, Kontrogianni-Konstantopoulos A, Raufman JP.   +4 more
europepmc   +1 more source

Realising gene therapy: a biomedical challenge. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +1 more source