Results 231 to 240 of about 183,642 (350)

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

The Emerging <i>TNNT3</i> Spectrum: From Distal Arthrogryposis to Congenital Myopathy. [PDF]

Hum Mutat
Altin N, Mamchaoui K, Ohana J, Bigot A, Corradi B, Maragliano L, Madia F, Ognibene M, Nosrati MSS, Paladini D, Iacomino M, Rashid A, Bodamer O, Quijano-Roy S, Punetha J, Capra V, Zara F, Trollet C, Scala M.   +18 more
europepmc   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

, 2013
Mariacristina Scoto, Tom Cullup, Sebahattin Çırak, Shu Yau, Adnan Y Manzur, Long Feng, Thomas S Jacques, Glenn Anderson, Stephen Abbs, Caroline Sewry, Heinz Jungbluth, Francesco Muntoni   +11 more
openalex   +2 more sources

LCN2‐ACOD1 Signalling Affects the Post‐Injury Regeneration of Skeletal Muscle Through Mediating Ferroptosis

Cell Proliferation, EarlyView.
LCN2 mediates the suppression of C2C12 myoblast proliferation and myotube formation via erastin‐induced ferroptosis. Mechanistically, the LCN2‐ACOD1 axis regulates skeletal muscle growth via mitochondria‐associated ferroptosis, providing a theoretical basis for the prevention and therapy of muscle‐related diseases.
Xiaojing Hao, Hongwei Shi, Di Wu, Rui Liang, Tong Zhao, Wen Sun, Yue Wang, Xiuju Yu, Xiaomao Luo, Yi Yan, Jiayin Lu, Haidong Wang, Juan Wang   +12 more
wiley   +1 more source

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS): Results of a multicenter observational study

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the ...
Marleen M. L. van Arnhem, Linde J. Vijn, Guido Rubboli, Marianne Søndergaard Khinchi, Petia Dimova, Emilio Perucca, Valentina De Giorgis, Liisa Metsähonkala, Georgia Ramantani, Anna Jansen, Richard Chin, Lieven Lagae, Alexis Arzimanoglou, Wim M. Otte, Frans S. S. Leijten, Heleen C. van Teeseling, Kees P. J. Braun, Floor E. Jansen, Bart van den Munckhof   +18 more
wiley   +1 more source

Sertraline-Associated Riboflavin-Responsive Lipid Storage Myopathy: Report of Two Case. [PDF]

Muscle Nerve
Shaibani A, Taylor A.
europepmc   +1 more source

3) Development of Therapy for Amyotrophic Lateral Sclerosis and Distal Myopathy

, 2012
Masashi Aoki
openalex   +2 more sources

Equine botulism

Equine Veterinary Journal, EarlyView.
Abstract Botulism is a severe and often fatal disease in equine patients worldwide. Clostridium botulinum is a ubiquitous soil organism which produces a potent neurotoxin resulting in neuromuscular blockade and flaccid paralysis in affected animals. Definitive diagnosis is often impractical or impossible, leading to diagnosis and treatment based on ...
Kali Slavik, Robert Whitlock, Amy Johnson   +2 more
wiley   +1 more source