Results 61 to 70 of about 1,730 (187)

Data_Sheet_3_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.PDF

, 2022
BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077), Feng Xiao (27219), Jia-ying Bai (13825660), Chun-yan Zhu (565275), Yan Xie (41714), Li Zeng (77324), Song Tan (798605), Kai Chen (129938)   +7 more
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Assessing dysferlinopathy patients over three years with a new motor scale [PDF]

, 2021
OBJECTIVE: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design.
James, Meredoith K, Blamire, A.M., Pegoraro E., Jordi Díaz‐Manera, James M. K., Bello L., Sakamoto C., DeWolf, Brittney, Sanchez-Aguilera-Praxedes, Nieves, Práxedes, N.S.A., Mori-Yoshimura, M., Ursula Moore, Duong, Tina, Jean‐Yves Hogrel, Linda P. Lowes, Siener, C., Maron, Elke, Bharucha-Goebel, Diana X., DeWolf B., Scott Holsten, Blamire, Andrew, Vandevelde, Bruno, Canal A., Jacobs, Marni, Irene Pedrosa‐Hernández, Lindsay N. Alfano, Catherine Siener, Madoka Mori‐Yoshimura, Maron E., Rufibach, Laura E., Emmanuelle Salort‐Campana, Paradas, Carmen, Guglieri, Michella, Lowes L. P., Pedrosa-Hernández, I., Aurélie Canal, Mayhew A. G., Spuler, Simone, Siener, Catherine, Duong, T., Anna G. Mayhew, Guglieri, Michela, Jacobs, M., Jacobs M. B., Rose K., Stojkovic T., Marni B. Jacobs, Diana X. Bharucha‐Goebel, Stojkovic, Tanya, Thiele S., Maggie C. Walter, Walter M. C., Tina Duong, Laura E. Rufibach, Blamire A. M., James, M.K., Canal, Aurélie, Muni Lofra, R., Díaz-Manera, J., Hogrel J. -Y., Muni-Lofra, Robert, Pegoraro, E., Michelle Eagle, Pestronk A., Alan Pestronk, Lowes, L.P., Thiele, S., Hogrel, J.Y., Tanya Stojkovic, Guglieri M., Carlier, Pierre G., Holsten, S., Pedrosa-Hernandez I., Mendell, Jerry R., Mendell, J.R., Eagle, Michelle, Day, John W, Canal, A., Alfano, L.N., DeWolf, B., Elena Pegoraro, Jones, K.J., Carlier, P.G., Straub, Volker, Salort-Campana E., Bharucha-Goebel, D.X., Brittney DeWolf, Díaz-Manera, Jordi, Rose, K., Mendell, J. R., James, Meredith K., Pegoraro, Elena, Straub V., Bello, Luca, John W. Day, Alfano L. N., Paradas C., Mori-Yoshimura, Madoka, Jones, Kristi J, Walter, M.C., Muni Lofra, Robert, Blamire, Andrew M., Day, John W., Siener C., Day, J.W., Andrew M. Blamire, Jacobs, Marni B, Eagle, M., Rufibach, L.E., Mayhew, A.G., Vandevelde B., Bravver, Elena, Sakamoto, C., Bello, L., Day J. W., Bruno Vandevelde, Meredith K. James, Paradas, C., Lofra, R.M., Nieves Sanchez‐Aguilera Práxedes, Jones K. J., Holsten, Scott, Blamire, Andrew M, Feng, J., Vandevelde, B., Feng, Jia, Duong T., Carlier P. G., Rufibach, Laura E, Chikako Sakamoto, Carmen Paradas, Rufibach L. E., Moore, Ursula, Jia Feng, Mayhew, Anna G, Kristy Rose, Elke Maron, Spuler S., Luca Bello, Stojkovic, T., Diaz-Manera J., Volker Straub, Thiele, Simone, Carlier, Pierre G, Michela Guglieri, Alfano, Lindsay, Pedrosa-Hernández, Irene, Simone Thiele, Spuler, S., Robert Muni Lofra, Salort-Campana, E., Mayhew, Anna G., Moore U., Walter, Maggie C., Lowes, Linda Pax, Jones, Kristi J., Pierre G. Carlier, Muni Lofra R., Pestronk, Alan, Maron, E., Mendell, Jerry R, Salort-Campana, Emmanuelle, Rose, Kristy, Hogrel, Jean-Yves, Jerry R. Mendell, Feng J., Lowes, Linda P, Kristi J. Jones, Simone Spuler, Eagle M., Bravver, E., Guglieri, M., Walter, Maggie C, Bharucha-Goebel D. X., Bravver E., Bharucha-Goebel, Diana X, Pestronk, A., Sakamoto, Chikako, Sanchez-Aguilera Praxedes N., Mendell J. R., Moore, U., Alfano, Lindsay N, Sanchez-Aguilera Práxedes, N., Sánchez-Aguilera Praxedes, Nieves, James, Meredith K, Straub, V., Elena Bravver, Holsten S., Mori-Yoshimura M., Bharucha-Goebel, Diana   +189 more
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Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1154-1159, June 2026.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene

Annals of Clinical and Translational Neurology, 2023
The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun, Zhiying Xie, Lu Cong, Yan Xu, Zunjing Liu   +4 more
doaj   +1 more source

Elbow Flexors Muscle Fat Fraction Is a Sensitive and Relevant Outcome Measure in Nonambulant Patients With DMD

NMR in Biomedicine, Volume 39, Issue 6, June 2026.
Quantitative MRI of upper limb muscles in DMD patients showed increasing sensitivity to change over time with larger analysis volumes and longer follow‐up. Muscle fat fraction had the highest sensitivity to change and was associated with declining upper limb function, supporting its value as a robust imaging biomarker in DMD. ABSTRACT Duchenne muscular
M. Michaëls, K. J. Naarding, M. van der Holst, N. Geijsen, E. H. Niks, H. E. Kan   +5 more
wiley   +1 more source

Magnetic resonance imaging pattern variability in dysferlinopathy

, 2021
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy.
Isaev A.A., Kurbatov S.A., Berezhnaya E.N., Zheleznyak I.S., Titova A.A., Umakhanova Z.R., A Yakovlev I., Nikitin S.S., Bardakov S.N., Tsargush V.A., Deev R.V., Carlier P.G., Akhmedova P.G., Emelyantsev A.A., Magomedova R.M.   +14 more
core  

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

, 2018
Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using ...
박형준
core   +2 more sources

Dysferlin at transverse tubules regulates Ca2+ homeostasis in skeletal muscle

Frontiers in Physiology, 2014
The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases.
Jaclyn P. Kerr, Christopher W. Ward, Robert J. Bloch   +2 more
doaj   +1 more source

Beyond the first bout: Adaptations to repeated injuries across physiological and pathological conditions

Physiological Reports, Volume 14, Issue 10, May 2026.
The repeated bout effect (RBE) is an adaptive response to a subsequent injury; muscle physiological or pathological state determines the magnitude and trajectory of strength adaptation. Abstract Skeletal muscle exhibits remarkable plasticity following injury, yet most research has focused on responses to a single bout of eccentric contractions.
Cory W. Baumann, Christopher P. Ingalls, Kazunori Nosaka, Jarrod A. Call   +3 more
wiley   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, Volume 13, Issue 22, 17 April 2026.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source