Results 71 to 80 of about 799 (137)

Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles. [PDF]

Eur J Hum Genet
Swinkels H, Leferink M, Pennings M, van der Sanden B, Gilissen C, Galbany JC, Kamsteeg EJ.   +6 more
europepmc   +1 more source

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array. [PDF]

Int J Mol Sci, 2023
Visconti VV, Macrì E, D'Apice MR, Centofanti F, Massa R, Novelli G, Botta A.   +6 more
europepmc   +1 more source

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Seifert BA, Reddi HV, Kang BE, Bean LJH, Shealy A, Rose NC, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.   +6 more
europepmc   +1 more source

A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article. [PDF]

Medicine (Baltimore), 2021
Yoo SW, Baek SJ, Kim DC, Doo AR, Doo AR.
europepmc   +1 more source

Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy. [PDF]

J Clin Invest
Nitschke L, Cooper TA.
europepmc   +1 more source

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. [PDF]

Eur J Hum Genet, 2022
Yanovsky-Dagan S, Cohen E, Megalli P, Altarescu G, Schonberger O, Eldar-Geva T, Epsztejn-Litman S, Eiges R.   +7 more
europepmc   +1 more source

Myotonic Dystrophy Type 1: Focus on the RNA Pathology and Therapy [PDF]

, 2012
Andrie Koutsoulidou, Leonidas A. Phylactou, Nikolaos P. Mastroyiannopoulos   +2 more
core   +2 more sources

Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1. [PDF]

Mol Ther
Tomassy GS, Fan W, Cao S, Luo Z, Magli A, Zhang T, Boyle K, Jackson R, Richards B, Liu D, Rapaport F, Khader S, Pfister EL, O'Riordan C, Frederick A, Sullivan J, Cao J, Nageswara Rao K, Assaf BT, Goulet M, Mueller C.   +20 more
europepmc   +1 more source

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India [PDF]

Human Mutation, 1999
P. Basu, P.K. Gangopadhaya, S.C. Mukherjee, K.K. Sinha, N.P. Bhattacharyya   +4 more
openaire   +1 more source

Versatility of Liposomes for Antisense Oligonucleotide Delivery: A Special Focus on Various Therapeutic Areas. [PDF]

Pharmaceutics, 2023
Gupta R, Salave S, Rana D, Karunakaran B, Butreddy A, Benival D, Kommineni N.   +6 more
europepmc   +1 more source