Results 111 to 120 of about 114,439 (345)

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

Recurrent drought amplifies drought impacts and increases seasonal synchrony in mountain grassland communities

Oikos, EarlyView.
Climate change increases the recurrence of drought events with strong repercussions on grassland ecosystems. While the effects of single drought events on ecosystem structure and functioning are well understood, it is largely unknown whether and how recurrent drought events modify ecosystem responses to subsequent drought.
Lena M. Müller, Michael Bahn, Maximillian Weidle, Georg Leitinger, Dina in 't Zandt   +4 more
wiley   +1 more source

Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

Nature Communications, 2017
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9.
N. Bengtsson, John K. Hall, G. Odom, Michael P. Phelps, Colin R. Andrus, R. D. Hawkins, S. Hauschka, J. Chamberlain, J. Chamberlain   +8 more
semanticscholar   +1 more source

Establishing a telerehabilitation program for patients with Duchenne muscular dystrophy in the COVID-19 pandemic

Wiener Klinische Wochenschrift, 2020
Duchenne muscular dystrophy is a genetic disease characterized by gradual loss of motor function, respiratory failure and cardiomyopathy. During the time of the global coronavirus pandemic, maintenance of social distancing and self-isolation might ...
Agnieszka Sobierajska-Rek, Łukasz Mański, Joanna Jabłońska-Brudło, K. Śledzińska, Aleksandra Ucińska, J. Wierzba   +5 more
semanticscholar   +1 more source

Floral trait similarity at the community‐level increases reproductive success suggesting facilitation through pollinator sharing

Oikos, EarlyView.
The ability of plants to attract pollinators is context‐dependent, influenced by floral traits, abundance, and resources from the plant community. Indirect interactions through shared pollinators, from competition to facilitation, may lead to varied reproductive outputs in plants, and the mechanisms behind these interactions remain to be fully ...
Marsal D. De Amorim, Pedro J. Bergamo, Elisa Thébault, Luís G. S. Perugini, Sabrina A. Lopes, André R. Rech, Pietro K. M. Maruyama   +6 more
wiley   +1 more source

Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry

BMC Neurology, 2019
Background Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use. Methods This retrospective analysis assessed corticosteroid use in ambulatory and nonambulatory US males ...
Leslie Cowen, Maria Mancini, Ann Martin, Ann Lucas, Joanne M. Donovan   +4 more
doaj   +1 more source

Electrophysiological Studies of Visual Attention and of Emotion Regulation [PDF]

, 2019
Electrophysiological methods, such as electroencephalography (EEG) and electrocardiography (ECG), measure biological activity that allow us to infer underlying cognitive processes.
Chu, Veronica
core  

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

Nucleic Acid Therapeutics, 2017
Eteplirsen, a phosphorodiamidate morpholino antisense oligonucleotide (PMO) that modulates splicing to treat Duchenne muscular dystrophy (DMD) patients, received accelerated approval by Food and Drug Administration (FDA) on September 19, 2016 [1].
A. Aartsma-Rus, A. Krieg
semanticscholar   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Comprehensive Profiling of Annexins in Neuromuscular Disorders Reveals a Unique Signature in Dysferlinopathy. [PDF]

Eur J Neurol
Muscle biopsies from patients across eight neuromuscular disorders and healthy controls were analyzed using immunofluorescence (IF) and immunoblot (WB) to evaluate the expression and localization of seven annexin proteins (A1, A2, A4, A5, A6, A7, A11).
He QF, Lin YH, Zheng ZL, Zeng MH, Lin X, Liu XY, Kang-Yang, Zhang QI, Lin MT, Wang N, Wang ZQ, Lin F.   +11 more
europepmc   +2 more sources