Results 31 to 40 of about 5,214,246 (295)

Molecular Genetics of Dupuytren´s Disease [PDF]

, 2012
Dupuytren’s disease (DD) is a fibromatosis of connective tissue within the palm of the hands. It is characterised by progressive collagen deposition that leads to hardening and thickening of the connective tissue and results in permanent contraction of ...
Becker, Kerstin
core   +1 more source

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

Cell Reports, 2015
The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo, Christopher R. Heier, James S. Novak, Christopher B. Tully, Kristy J. Brown, Kitipong Uaesoontrachoon, Maria C. Vila, Peter P. Ngheim, Luca Bello, Joe N. Kornegay, Corrado Angelini, Terence A. Partridge, Kanneboyina Nagaraju, Eric P. Hoffman   +13 more
doaj   +1 more source

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

Therapeutic Advances in Neurological Disorders, 2019
Duchenne and Becker muscular dystrophies are the most common muscle diseases and are both currently incurable. They are caused by mutations in the dystrophin gene, which lead to the absence or reduction/truncation of the encoded protein, with progressive
Daniela Piga, Sabrina Salani, Francesca Magri, Roberta Brusa, Eleonora Mauri, Giacomo P. Comi, Nereo Bresolin, Stefania Corti   +7 more
doaj   +1 more source

Becker & Van de Graaf rapport 988

, 2012
Becker & Van de Graaf heeft in 2010 een archeologische begeleiding, protocol opgraving uitgevoerd in verband met de aanleg van een gracht geplande (her)ontwikkeling van het plangebied Tusken de Marren in Akkrum, gemeente Boarnsterhim.
Corver, B.A., Becker en Van de Graaf, Hovenm, E. (red.)   +2 more
core   +1 more source

Archeologisch Bureauonderzoek en Inventariserend veldonderzoek (IVO), karterende fase. Becker & Van de Graaf rapport 949

, 2012
Archeologisch onderzoeksbureau Becker & Van de Graaf bv heeft in mei 2010 een archeologisch bureauonderzoek en een inventariserend booronderzoek, karterende fase 1 (door middel van boringen) uitgevoerd op het terrein van camping Tusken de Marren aan ...
Becker & van de Graaf, Nales, T., Becker en Van de Graaf   +2 more
core   +1 more source

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

BMC Medical Genetics, 2020
Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov   +6 more
doaj   +1 more source

Modifications of Lysine Residues 294 and 311 Within the Microtubule‐Binding Region Alter Tau Aggregation and Tubulin Binding Equilibria

Angewandte Chemie, EarlyView.
The molecular consequences of specific lysine modifications in Alzheimer´s disease remain insufficiently resolved in the context of full‐length protein. Here we integrate protein semisynthesis, segmental isotope labelling, and high‐resolution NMR spectroscopy to achieve residue‐resolved interrogation of site‐specific acetylation and carboxymethylation.
Dominik P. Vogl, Mario Migotti, Robert Konrat, Anne C. Conibear, Christian F. W. Becker   +4 more
wiley   +2 more sources

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Molecular Genetics and Metabolism Reports, 2020
Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam   +2 more
doaj   +1 more source

Atrioventricular Septal Defect: What Is in a Name?

Journal of Cardiovascular Development and Disease, 2021
Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult ...
Michael Rigby
doaj   +1 more source