Results 201 to 210 of about 182,656 (351)

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

A comprehensive framework for the interpretation of TTN missense variants. [PDF]

Genome Med
Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandarà GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Õunap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen CT, Tasca G, Reeves T, Mörner S, Danielsson O, Udd B, T. T. N. study group, Gautel M, Savarese M.   +59 more
europepmc   +1 more source

Osteomalacic Myopathy Masquerading Bilateral Femoral Neck Fracture: A Rare Case

, 2023
Asra Bano, P. Veechika, Shalini Akunuri
openalex   +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

Anaesthetic Management of a Patient With LDB3-Associated Myopathy Undergoing Prostate Biopsy Under Total Intravenous Anaesthesia: A Case Report. [PDF]

Cureus
Swami SS, Campbell M, Basappakokati DR.
europepmc   +1 more source

Myopathy and hepatic lipidosis in weaned lambs due to vitamin E deficiency.

, 2004
Paula Menzies, Lisa Langs, Herman J. Boermans, John D. Martin, John McNally   +4 more
openalex   +1 more source

Age‐related clinical heterogeneity and peripheral T cell profile alterations in primary Sjögren's disease: A retrospective study of 5778 patients

Rheumatology &Autoimmunity, EarlyView.
This large‐scale retrospective study of 5778 primary Sjögren's disease (SjD) patients, stratified by diagnostic age, defines a distinct clinical and immunological profile for early‐diagnosed (<45 years) disease. We identified early diagnosis as an independent risk factor for hypergammaglobulinemia and interstitial lung disease, underpinned by a ...
Yuan Ning, Ruiling Feng, Kai Zhang, Yipeng Han, Ruoyi Wang, Guangwen Li, Yuebo Jin, Jing He   +7 more
wiley   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Development of Necrotizing Myopathy Following Interstitial Lung Disease with Anti-signal Recognition Particle Antibody

, 2018
Tatsuya Kusumoto, Satoshi Okamori, Keita Masuzawa, Takanori Asakura, Naoshi Nishina, Shotaro Chubachi, Katsuhiko Naoki, Koichi Fukunaga, Tomoko Betsuyaku   +8 more
openalex   +2 more sources

Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds [PDF]

, 2010
Molly E. McCue, Susan M. Anderson, Stephanie J. Valberg, Richard J. Piercy, Safia Barakzai, M. M. Binns, O. Distl, M. C. T. Penedo, M.L. Wagner, James R. Mickelson   +9 more
openalex   +1 more source