Results 91 to 100 of about 58,003 (251)

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene

Revista de Biología Tropical, 2008
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Fernando Morales, Patricia Cuenca, Gerardo del Valle, Melissa Vásquez, Roberto Brian, Mauricio Sittenfeld, Keith Johnson, Xi Lin, Tetsuo Ashizawa   +8 more
doaj  

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Characterising fine‐scale habitat associations for range expanding species with limited data: a case study on the West Nile Virus vector, Culex modestus

Oikos, EarlyView.
The ecological and epidemiological consequences of species expanding into new areas are growing concomitantly with climate change. Those aiming to monitor species expanding in range must make optimal use of finite resources to deliver effective surveillance capable of detecting new incursions and range expansions.
Susanna Cant, Owen Jones, Maisie Vollans, Maximilian Ayling, Nyall Jamieson, Alexander G. C. Vaux, Jolyon M. Medlock, Thomas Ward, Julie Day, Robert S. Paton   +9 more
wiley   +1 more source

Vitamin D and calcium supplementation in children with eosinophilic esophagitis on a dairy‐free elimination diet: A single‐center review

JPGN Reports, EarlyView.
Madyson Derouin, Robert Becker, Caitlin Jacobs, Ankur Chugh, Rose Lee   +4 more
wiley   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Reversal of Antithrombotic Therapy

JACC: Basic to Translational Science, 2017
Richard C. Becker, MD
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Thomsen and Becker disease [PDF]

, 2020
openaire   +1 more source

Illegal Gold Mining in the Brazilian Amazon: Environmental Degradation in Yanomami Indigenous Lands, and Regulatory Failures

Sustainable Development, EarlyView.
ABSTRACT Illegal gold mining has emerged as a major sustainability threat in the Amazon, eroding Indigenous rights, forest integrity, and climate mitigation efforts. This study examines how international market incentives relate to the expansion of illegal mining and associated deforestation within the Yanomami Indigenous Territory (YIT) from 2008 to ...
Shirléia Lago Santos, Ana Claudia de Araujo Moxotó, Jurandir Moura Dutra   +2 more
wiley   +1 more source

Learning to innovate: How and when firms transform intellectual capital into exploratory and exploitative innovation

Strategic Entrepreneurship Journal, EarlyView.
Abstract Research Summary Corporate entrepreneurship (CE) requires firms to pursue both exploratory and exploitative innovation, yet limited research explains how intellectual capital (IC) is translated into these distinct outcomes. We develop a contingency model that specifies how and when IC drives exploration and exploitation.
Gholamhossein (Amir) Mehralian, Arash Sadeghi, Ralf Wilden   +2 more
wiley   +1 more source