Results 31 to 40 of about 9,962,231 (339)

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies. [PDF]

PLoS ONE, 2016
Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame.
Zhi Yon Charles Toh, May Thandar Aung-Htut, Gavin Pinniger, Abbie M Adams, Sudarsan Krishnaswarmy, Brenda L Wong, Sue Fletcher, Steve D Wilton   +7 more
doaj   +1 more source

A Rare Case of Checkerboard-Like Becker Nevi with a Unique Distribution of Abnormalities

Case Reports in Dermatological Medicine, 2019
Becker nevus syndrome refers to a rare disorder comprising the typical pigmented lesion and its associated developmental abnormalities. Becker nevus itself is typically localized on the upper trunk, scapular or upper arm unilaterally; however, it can ...
Chanidapa Wongtada, Pravit Asawanonda, Marisa Pongprutthipan   +2 more
doaj   +1 more source

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene

The Turkish Journal of Pediatrics, 2020
Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj   +1 more source

Livestock abundance predicts vampire bat demography, immune profiles, and bacterial infection risk [PDF]

, 2018
Human activities create novel food resources that can alter wildlife–pathogen interactions. If resources amplify or dampen, pathogen transmission probably depends on both host ecology and pathogen biology, but studies that measure responses to ...
Altizer, Sonia, Becker, Daniel, Bentz, Alexandra B., Camus, Melinda S., Carrera, Jorge E., Chizhikov, Vladimir E., Czirjak, Gabor A., Fenton, M. Brock, Gilbert, Amy T., Navara, Kristen J., Recuenco, Sergio E., Simmons, Nancy B., Streicker, Daniel, Volokhov, Dmitriy V.   +13 more
core   +3 more sources

The X‐linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45–47

Journal of Cachexia, Sarcopenia and Muscle, 2023
Becker muscular dystrophy (BMD) is a genetic neuromuscular disease of growing importance caused by in‐frame, partial loss‐of‐function mutations in the dystrophin (DMD) gene.
Christopher R. Heier, Nikki M. McCormack, Christopher B. Tully, J. Novak, Breanne L Newell-Stamper, Alan Russell, A. Fiorillo   +6 more
semanticscholar   +1 more source

Moroccan consanguineous family with Becker myotonia and review

Annals of Indian Academy of Neurology, 2011
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani   +5 more
doaj   +1 more source

Host-virus interactions in PK-15 cells infected with Pseudorabies virus Becker strain based on RNA-seq

Virus Research, 2022
Pseudorabies is a highly contagious viral disease caused by the pseudorabies virus (PRV), and it is one of the most devastating diseases for the swine industry worldwide.
Aishao Shangguan, Jingjin Li, Yumei Sun, Zhongzhu Liu, Shujun Zhang   +4 more
doaj   +1 more source

Association of Amyloid and Tau With Cognition in Preclinical Alzheimer Disease

JAMA Neurology, 2019
Key Points Question Is cognitive decline associated with amyloid-β or tau tangles accumulation? Findings In this cohort study that included 60 normal older adults with repeated positron emission tomography measures, the rate of tau accumulation in the ...
Bernard J. Hanseeuw, Bernard J. Hanseeuw, R. Betensky, H. I. Jacobs, H. I. Jacobs, A. Schultz, J. Sepulcre, J. Becker, Danielle M. Cosio, Michelle E. Farrell, Y. Quiroz, Elizabeth C. Mormino, Elizabeth C. Mormino, Rachel F Buckley, Rachel F Buckley, Rachel F Buckley, K. Papp, K. Papp, Rebecca Amariglio, Rebecca Amariglio, Ilse Dewachter, Ilse Dewachter, A. Ivanoiu, A. Ivanoiu, W. Huijbers, W. Huijbers, T. Hedden, G. Marshall, G. Marshall, J. Chhatwal, D. Rentz, D. Rentz, R. Sperling, R. Sperling, Keith A. Johnson, Keith A. Johnson   +35 more
semanticscholar   +1 more source

Skin α-Synuclein Aggregation Seeding Activity as a Novel Biomarker for Parkinson Disease

JAMA Neurology, 2020
Key Points Question Does the pathological α-synuclein (αSynP) detected by immunohistochemistry in the skin of individuals with Parkinson disease (PD) have aggregation seeding activity, and is skin αSynP seeding activity a potential biomarker for ...
Zerui Wang, K. Becker, V. Donadio, S. Siedlak, Jue Yuan, M. Rezaee, A. Incensi, A. Kuzkina, C. Orrú, C. Tatsuoka, R. Liguori, S. Gunzler, B. Caughey, M. Jiménez-Capdeville, Xiongwei Zhu, K. Doppler, Li Cui, Shu G. Chen, Jiyan Ma, W. Zou   +19 more
semanticscholar   +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