Results 61 to 70 of about 1,440 (186)

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
core   +3 more sources

THE CHALLENGING DIAGNOSIS OF DYSFERLINOPATHY – A CASE REPORT

Romanian Journal of Neurology, 2021
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype.
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
openaire   +2 more sources

Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study [PDF]

, 2022
\ua9 2022 The Authors. Muscle & Nerve published by Wiley Periodicals LLC. INTRODUCTION/AIMS: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy.
Lowes LP, Mayhew AG, Carlier PG, Paradas C, Mori-Yoshimura M, Jacobs M, James MK, Blamire AM, Bourke J, Pestronk A, Mendell JR, Gordish-Dressman H, Diaz-Manera J, Straub V, Walter MC, Bushby K, Guglieri M, Day JW, Jones KJ, Moore U, Stojkovic T, Rufibach LE, Bharucha-Goebel DX, Bravver E, Fernandez-Torron R, Feng J, Spuler S, Harris E, Pegoraro E, Salort-Campana E   +29 more
core   +4 more sources

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)

Case Reports in Genetics, 2016
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).
Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi   +7 more
doaj   +1 more source

Table_1_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.DOCX [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
core   +1 more source

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

Frontiers in Neuroscience, 2022
BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families ...
Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega   +10 more
doaj   +1 more source

Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related

Diagnostics, 2020
Limb-girdle muscular dystrophy type R2 dysferin-related (LGMD R2 dysferin-related), a phenotype of dysferlinopathy, usually begins with pelvic girdle weakness.
Du Hwan Kim, Dae-Hyun Jang, Ja-Hyun Jang
doaj   +1 more source

Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses

Frontiers in Neurology, 2021
Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total ...
Huili Zhang, Yaqin Li, Qiusheng Cheng, Xi Chen, Qiuxia Yu, Ze Li   +5 more
doaj   +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

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source