Results 11 to 20 of about 130,419 (249)

Pseudoexons of the DMD Gene

Journal of Neuromuscular Diseases, 2020
The DMD gene is the largest in the human genome, with a total intron content exceeding 2.2Mb. In the decades since DMD was discovered there have been numerous reported cases of pseudoexons (PEs) arising in the mature DMD transcripts of some individuals, either as the result of mutations or as low-frequency errors of the spliceosome.
Niall P. Keegan
openaire   +5 more sources

Dimethyldioxirane (DMD) [PDF]

Synlett, 2008
Vishnu Srivastava
openalex   +3 more sources

DMD – ANIMAL MODELS [PDF]

Neuromuscular Disorders, 2021
A. Marino, C. Selvais, Sonia Brichard, C. Beauloye, N. Dubuisson, Laurence Noel, Michel Abou-Samra, S. Horman   +7 more
  +25 more sources

DMD – CLINICAL CARE [PDF]

Neuromuscular Disorders, 2021
Gita Ramdharry, Rosaline Quinlivan, K. Waller, M. Guglieri, R. Astin, S. Chapman, A. Pietrusz, A. Mayhew, M. Desikan, R. Muni-Lofra   +9 more
  +25 more sources

Sinus Tachycardia and Unrelieved Wall Stress Precede Left Ventricular Systolic Dysfunction During Preclinical Cardiomyopathic Changes in Duchenne Muscular Dystrophy [PDF]

Journal of Cardiovascular Development and Disease
Background: The onset of cardiomyopathy in Duchenne muscular dystrophy (DMD) is insidious and poorly defined. We proposed integrated wall stress (iWS) as a marker of total left ventricular (LV) workload and tested whether the increased iWS represents ...
Takeshi Tsuda, Amy Walczak, Karen O’Neil   +2 more
doaj   +2 more sources

DMRT Transcription Factors in the Control of Nervous System Sexual Differentiation

Frontiers in Neuroanatomy, 2022
Sexual phenotypic differences in the nervous system are one of the most prevalent features across the animal kingdom. The molecular mechanisms responsible for sexual dimorphism throughout metazoan nervous systems are extremely diverse, ranging from ...
Rafael Casado-Navarro, Esther Serrano-Saiz   +1 more
doaj   +1 more source

A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing

Human Mutation, 2021
Molecular diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) involves a two‐tiered approach for detection of deletions/duplications using MLPA or array CGH, followed by sequencing of coding and flanking intronic regions to detect sequence ...
B. Nallamilli, A. Chaubey, C. A. Valencia, L. Stansberry, Andrea Behlmann, Zeqiang Ma, A. Mathur, S. Shenoy, V. Ganapathy, L. Jagannathan, Vinish Ramachander, A. Ferlini, Lora Bean, M. Hegde   +13 more
semanticscholar   +1 more source

Patients’ perceptions on temporomandibular disorder treatment with hydrostatic oral splints - a pilot study

BDJ Open, 2022
Objective To evaluate temporomandibular disorder (TMD) treatment with a prefabricated, hydrostatic oral splint (HOS) based on self-reported patient’s symptoms using a standardized questionnaire.
H. Sabbagh, A. Sabbagh, A. Heppner, C. Auer, A. Wichelhaus, L. Hoffmann   +5 more
doaj   +1 more source

Transcriptional behavior of DMD gene duplications in DMD/BMD males [PDF]

Human Mutation, 2009
DMD gene exons duplications account for up to 5-10 % of Duchenne (DMD) and up to 5-19% of Becker (BMD) muscular dystrophies; as for the more common deletions, the genotype-phenotype correlation and the genetic prognosis are generally based on the "reading frame rule".
Gualandi F., Neri M., Bovolenta M., Martoni E., Rimessi P., Fini S., Spitali P., Fabris M., Pane M., Angelini C., Mora M., Morandi L., Mongini T., Bertini E., Ricci E., Vattemi G., Mercuri E., Merlini L., Ferlini A.   +18 more
openaire   +6 more sources

Diagnostic Accuracy on Magnetic Resonance Imaging for the Diagnosis of Osteoarthritis of the Temporomandibular Joint [PDF]

Journal of Clinical and Diagnostic Research, 2015
Objectives: Osteoarthritis, which is also called degenerative arthritis or degenerative joint disease, is primarily a disease that results from the breakdown and loss of cartilage in joints. The purpose of this study was to investigate the diagnostic
Shinya Yura, Saori Harada, Kazuhiko Kobayashi   +2 more
doaj   +1 more source