Výsledky vyhľadávania - "LIMB-girdle muscular dystrophy"

Dysferlin and the Regulation of Ca 2+ Release in Skeletal Muscle.

Autori: Bloch, Robert J. Muriel, Joaquin Lukyanenko, Valeriy

Zdroj: Cells (2073-4409). Nov2025, Vol. 14 Issue 21, p1724. 27p.

Predmety: *SKELETAL muscle, *LIMB-girdle muscular dystrophy, *CALMODULIN, *SARCOPLASMIC reticulum, *INTRACELLULAR calcium, *CALCIUM-binding proteins

MyomiRs Expression in Limb Girdle Muscular Dystrophy.

Autori: Breveglieri, G. Altieri, M. T. Rodia, M. T. a ďalší

Zdroj: IUBMB Life. Oct2025, Vol. 77 Issue 10, p1-17. 17p.

Predmety: *LIMB-girdle muscular dystrophy, *MICRORNA, *BIOMARKERS, *MUSCLE cells, *GENE expression, *NEUROMUSCULAR diseases

Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)

Autori: Muscular Dystrophy Association

Zdroj: Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
van de Velde NM, Hooijmans MT, Sardjoe Mishre ASD, Keene KR, Koeks Z, Veeger TTJ, Alleman I, van Zwet EW, Beenakker JM, Verschuuren JJGM, Kan HE, Niks EH. Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy. Neurology. 2021 Aug 3;97(5):e513-e522. doi: 10.1212/WNL.0000000000012233. Epub 2021 Jun 23.
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Pozsgai ER, Griffin DA, Heller KN, Mendell JR, Rodino-Klapac LR. Systemic AAV-Mediated beta-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. Mol Ther. 2017 Apr 5;25(4):855-869. doi: 10.1016/j.ymthe.2017.02.013. Epub 2017 Mar 9.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251.
Potter RA, Griffin DA, Sondergaard PC, Johnson RW, Pozsgai ER, Heller KN, Peterson EL, Lehtimaki KK, Windish HP, Mittal PJ, Albrecht DE, Mendell JR, Rodino-Klapac LR. Systemic Delivery of Dysferlin Overlap Vectors Provides Long-Term Gene Expression and Functional Improvement for Dysferlinopathy. Hum Gene Ther. 2018 Jul;29(7):749-762. doi: 10.1089/hum.2017.062. Epub 2017 Jul 13.
Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F; North Star Clinical Network for Neuromuscular Disease. Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1046-52. doi: 10.1111/dmcn.12220. Epub 2013 Aug 5.
Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Diaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmuller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug.
James MK, Alfano LN, Muni-Lofra R, Reash NF, Sodhi J, Iammarino MA, Moat D, Shannon K, McCallum M, Richardson M, Eagle M, Straub V, Marini-Bettolo C, Lowes LP, Mayhew AG. Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies. Phys Ther. 2022 Oct 6;102(10):pzac113. doi: 10.1093/ptj/pzac113.
Hunter M, Heatwole C, Wicklund M, Weihl CC, Mozaffar T, Statland JM, Johnson NE. Limb-girdle muscular dystrophy: A perspective from adult patients on what matters most. Muscle Nerve. 2019 Oct;60(4):419-424. doi: 10.1002/mus.26636. Epub 2019 Jul 24.
Arrigoni F, De Luca A, Velardo D, Magri F, Gandossini S, Russo A, Froeling M, Bertoldo A, Leemans A, Bresolin N, D'angelo G. Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B. Muscle Nerve. 2018 Oct;58(4):550-558. doi: 10.1002/mus.26189. Epub 2018 Aug 22.
Willis TA, Hollingsworth KG, Coombs A, Sveen ML, Andersen S, Stojkovic T, Eagle M, Mayhew A, de Sousa PL, Dewar L, Morrow JM, Sinclair CD, Thornton JS, Bushby K, Lochmuller H, Hanna MG, Hogrel JY, Carlier PG, Vissing J, Straub V. Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PLoS One. 2014 Feb 28;9(2):e90377. doi: 10.1371/journal.pone.0090377. eCollection 2014.
Murphy AP, Morrow J, Dahlqvist JR, Stojkovic T, Willis TA, Sinclair CDJ, Wastling S, Yousry T, Hanna MS, James MK, Mayhew A, Eagle M, Lee LE, Hogrel JY, Carlier PG, Thornton JS, Vissing J, Hollingsworth KG, Straub V. Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints. Ann Clin Transl Neurol. 2019 May 16;6(6):1033-1045. doi: 10.1002/acn3.774. eCollection 2019 Jun.
Reyngoudt H, Marty B, Boisserie JM, Le Louer J, Koumako C, Baudin PY, Wong B, Stojkovic T, Behin A, Gidaro T, Allenbach Y, Benveniste O, Servais L, Carlier PG. Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases. Eur Radiol. 2021 Jun;31(6):4264-4276. doi: 10.1007/s00330-020-07487-0. Epub 2020 Nov 21.
Reyngoudt H, Smith FE, Caldas de Almeida Araujo E, Wilson I, Fernandez-Torron R, James MK, Moore UR, Diaz-Manera J, Marty B, Azzabou N, Gordish H, Rufibach L, Hodgson T, Wallace D, Ward L, Boisserie JM, Le Louer J, Hilsden H, Sutherland H, Canal A, Hogrel JY, Jacobs M, Stojkovic T, Bushby K, Mayhew A; Jain Clinical Outcome Study for Dysferlinopathy consortium; Straub V, Carlier PG, Blamire AM. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy. J Cachexia Sarcopenia Muscle. 2022 Jun;13(3):1850-1863. doi: 10.1002/jcsm.12987. Epub 2022 Apr 3.
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Willcocks RJ, Arpan IA, Forbes SC, Lott DJ, Senesac CR, Senesac E, Deol J, Triplett WT, Baligand C, Daniels MJ, Sweeney HL, Walter GA, Vandenborne K. Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression. Neuromuscul Disord. 2014 May;24(5):393-401. doi: 10.1016/j.nmd.2013.12.012. Epub 2014 Jan 11.
Burakiewicz J, Sinclair CDJ, Fischer D, Walter GA, Kan HE, Hollingsworth KG. Quantifying fat replacement of muscle by quantitative MRI in muscular dystrophy. J Neurol. 2017 Oct;264(10):2053-2067. doi: 10.1007/s00415-017-8547-3. Epub 2017 Jul 1.
Willcocks RJ, Rooney WD, Triplett WT, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Wang DJ, Harrington AT, Tennekoon GI, Russman BS, Finanger EL, Byrne BJ, Finkel RS, Walter GA, Sweeney HL, Vandenborne K. Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort. Ann Neurol. 2016 Apr;79(4):535-47. doi: 10.1002/ana.24599. Epub 2016 Feb 19.
Comi GP, Niks EH, Cinnante CM, Kan HE, Vandenborne K, Willcocks RJ, Velardo D, Ripolone M, van Benthem JJ, van de Velde NM, Nava S, Ambrosoli L, Cazzaniga S, Bettica PU. Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments. Muscle Nerve. 2022 Mar;65(3):326-333. doi: 10.1002/mus.27475. Epub 2021 Dec 30.
Batra A, Lott DJ, Willcocks R, Forbes SC, Triplett W, Dastgir J, Yun P, Reghan Foley A, Bonnemann CG, Vandenborne K, Walter GA. Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study. J Neuromuscul Dis. 2020;7(4):407-417. doi: 10.3233/JND-190457.
Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.

Impaired myogenesis in limb girdle muscular dystrophy type 2B.

Autori: Souza, Lucas Santos Ishiba, Renata Ribeiro-Junior, Antonio Fernando a ďalší

Zdroj: Scientific Reports. 9/30/2025, Vol. 15 Issue 1, p1-12. 12p.

Predmety: *MYOGENESIS, *LIMB-girdle muscular dystrophy, *GENE expression, *PROTEINS, *MYOBLASTS, *MUSCLE growth

Unravelling limb-girdle muscular dystrophy in an HIV patient: a diagnostic odyssey.

Autori: Chouksey, Sanchit Shailendra Dhiman, Neetu Rani Kumar, Anand a ďalší

Zdroj: Journal of Rare Diseases. 9/3/2025, Vol. 4 Issue 1, p1-4. 4p.

Predmety: *LIMB-girdle muscular dystrophy, *HIV, *MUSCLE diseases, *ANTIRETROVIRAL agents, *DIAGNOSTIC examinations, *ETIOLOGY of diseases, *NEUROMUSCULAR diseases, *DYSTROPHIN genes

Robot-assisted gait training for limb-girdle muscular dystro-phy: a pathway to improved functional independence.

Autori: Stoicanescu, Dorina Livia Nistor-Cseppento, Carmen Delia Deac, Stefania a ďalší

Zdroj: Balneo & PRM Research Journal. Sep2025, Vol. 16 Issue 3, p1-17. 17p.

Predmety: *LIMB-girdle muscular dystrophy, *ROBOTIC exoskeletons, *BARTHEL Index, *MUSCLE strength, *REHABILITATION, *RETROSPECTIVE studies, *FUNCTIONAL independence measure

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.

Autori: Mokhonova, Ekaterina I. Helzer, Daniel Malik, Ravinder a ďalší

Zdroj: Journal of Clinical Investigation. 9/2/2025, Vol. 135 Issue 17, p1-18. 18p.

Predmety: *LIMB-girdle muscular dystrophy, *MUSCULAR dystrophy, *ELECTRON microscopy, *MUSCLE cells, *DYSTROPHIN genes, *MEMBRANE proteins, *PROTEIN-protein interactions, *PROTEINS

Health-Related Quality-of-Life Outcomes in Patients with Recessive and Dominant LGMD: A Comparative Cross-Sectional Study.

Autori: Lépée-Aragón, Clara García, Irune Rodríguez, Alicia Aurora a ďalší

Zdroj: Muscles (2813-0413). Sep2025, Vol. 4 Issue 3, p25. 10p.

Predmety: *QUALITY of life, *LIMB-girdle muscular dystrophy, *PSYCHOSOCIAL factors, *MUSCLE weakness, *CROSS-sectional method, *SOCIOECONOMIC status

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb‐Girdle Muscular Dystrophy in an Isolated Uruguayan Population.

Autori: Demicheli, Elisa Zamora, Andrea Sánchez, Nury a ďalší

Zdroj: European Journal of Neurology. Sep2025, Vol. 32 Issue 9, p1-10. 10p.

Predmety: *LIMB-girdle muscular dystrophy, *GENETIC disorders, *DISEASE prevalence, *GENES, *MUSCLE diseases, *AGE of onset

Geografický termín: URUGUAY

A Founder Allele in SGCG Combining Missense Variant and Multi‐Exon Duplication in Turkish Patients With Sarcoglycanopathy.

Autori: Sezer, Abdullah Büke, Afife Kazan, Hasan Hüseyin a ďalší

Zdroj: Clinical Genetics. Aug2025, p1. 11p. 7 Illustrations.

Predmety: *TURKS, *LIMB-girdle muscular dystrophy, *GENETIC variation, *ALLELES, *MISSENSE mutation, *MUSCULAR dystrophy

Genetic and Clinical Spectrum of Limb–Girdle Muscular Dystrophies in Western Sicily.

Autori: Rini, Nicasio Lupica, Antonino Alonge, Paolo a ďalší

Zdroj: Genes. Aug2025, Vol. 16 Issue 8, p987. 14p.

Predmety: *LIMB-girdle muscular dystrophy, *GENETIC mutation, *LINKAGE (Genetics), *CALPAIN, *GENOTYPES, *DIAGNOSIS, *EPIDEMIOLOGY

Geografický termín: SICILY (Italy)

Tele-assessment in limb-girdle muscular dystrophy: feasibility and reliability of patient-led asynchronous method.

Autori: Baris, Muhammed Celik, Halil Ibrahim Karaduman, Aynur Ayse

Zdroj: Neurological Sciences. Aug2025, Vol. 46 Issue 8, p3941-3949. 9p.

Predmety: *LIMB-girdle muscular dystrophy, *INTRACLASS correlation, *SATISFACTION, *BARTHEL Index, *RESEARCH personnel

Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.

Autori: Paprad, Tanitnun Amornvit, Jakkrit Pobsuk, Thippamas a ďalší

Zdroj: Neurological Sciences. Aug2025, Vol. 46 Issue 8, p3929-3940. 12p.

Predmety: *LIMB-girdle muscular dystrophy, *MAGNETIC resonance imaging, *MEDICAL sciences, *THAI people, *PHENOTYPES

Centre-based landscape of muscular dystrophies in Gujarat: insight into genetic diagnosis and management.

Autori: Sindhav, Gaurang Trivedi, Pooja Patel, Krishnakumari a ďalší

Zdroj: Journal of Rare Diseases. 7/22/2025, Vol. 4 Issue 1, p1-13. 13p.

Predmety: *BECKER muscular dystrophy, *LIMB-girdle muscular dystrophy, *DUCHENNE muscular dystrophy, *MUSCULAR dystrophy, *NEUROMUSCULAR diseases

Geografický termín: GUJARAT (India)

High‐throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin‐deficient limb girdle muscular dystrophy.

Autori: Bruge, Celine Bourg, Nathalie Pellier, Emilie a ďalší

Zdroj: British Journal of Pharmacology. Jul2025, Vol. 182 Issue 13, p2930-2949. 20p.

Predmety: *LIMB-girdle muscular dystrophy, *DRUGS, *MUSCLE proteins, *AUTOPHAGY, *CELL survival, *HIGH throughput screening (Drug development), *DRUG discovery

PREGNANCY IN A WOMAN WITH LIMB GIRDLE MUSCULAR DYSTROPHY.

Autori: Kumar, Sonal Tarakeswari Hemalatha a ďalší

Zdroj: Indian Obstetrics & Gynaecology. Jul-Sep2025, Vol. 15 Issue 3, p18-21. 4p.

Predmety: *PREGNANCY, *LIMB-girdle muscular dystrophy, *POSTNATAL care, *OBSTETRICS, *MULTIDISCIPLINARY practices, *PRENATAL care

ATA-200 Dose-escalation Gene Therapy Trial in Patients With LGMDR5

Zdroj: A Phase 1-2, Open-label, Dose Escalation Study to Evaluate the Safety of 2 Doses of Intravenous ATA-200, an Adeno-associated Viral Vector Carrying the Human SGCG Gene, in Patients With Gamma-sarcoglycanopathy (LGMDR5)

A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)

Zdroj: A Two-part Multicenter Study: a Randomized, Double-blind, Placebo-controlled Dose-escalation Safety Phase (Part 1) Followed by Double-blind, Placebo-controlled, Adaptive Phase (Part 2) Study to Evaluate the Safety and Efficacy of AB-1003 in Adult Subjects With LGMD2I/R9 Mutations in the Gene Encoding Fukutin Related Protein (FKRP)

Natural History Study in Patients With LGMDR5/2c

Zdroj: A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)

Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E

Prispievatelia: Lindsay Alfano, Principal Investigator

Zdroj: Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E