Works matching DE "MUSCULAR dystrophy"

Results: 2773

Clinical course of growth in patients with congenital neuromuscular disease in a single multidisciplinary neuromuscular clinic.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2016, v. 9, n. 1, p. 13, doi. 10.3233/PRM-160357

By:

Watne, Laura;
Yang, Michele L.

Publication type:

Article

Dystrophin-Deficient Muscular Dystrophy in an Australian Cattle Dog (Blue Heeler).

Published in:

2025

By:

Bernier-Parker, Nathan;
Moore, Trevor W.;
Stainback, Laura B.;
Lovato, Lydia;
Guo, Ling T.;
Shelton, G. Diane;
Knowles, Kim E.

Publication type:

Case Study

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1179, doi. 10.1002/acn3.70049

By:

Hunn, Stephanie M.;
Alfano, Lindsay N.;
Jones, Aileen;
Butler, Amanda;
Lowes, Linda P.;
Iammarino, Megan A.;
Reash, Natalie F.;
Pietruszewski, Lindsay;
Sasidharan, Sandhya;
Currence, Melissa;
Statland, Jeffrey M.;
Strahler, Talia;
Will, Robert;
Wicklund, Matthew;
Dixon, Stacy;
Augsburger, Renee;
Mozaffar, Tahseen;
Laubscher, Katie M.;
Mockler, Shelley R. H.;
Mathews, Katherine D.

Publication type:

Article

A Clinical Study on the Utility of Muscle Biopsy in Patients with Suspected Myopathy.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 363, doi. 10.4103/aian.aian_934_24

By:

Karunakaran, Sudhakar;
Kuruvilla, Abraham;
Nair, Muralidharan;
Nair, Sruthi S;
Narasimhaiah, Deepti

Publication type:

Article

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5350, doi. 10.3390/ijms26115350

By:

Kuntawala, Dhvani H.;
Vitorino, Rui;
Cruz, Ana C.;
Martins, Filipa;
Rebelo, Sandra

Publication type:

Article

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100035

By:

Mathur, Priyanshu;
Kaur, Ashmeet;
Vijay, Urvashi;
Gupta, Ashok;
Agarwal, Kamlesh;
Agrawal, Lokesh

Publication type:

Article

Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.

Published in:

Journal of Neurology, 2025, v. 272, n. 7, p. 1, doi. 10.1007/s00415-025-13126-9

By:

Riguzzi, Pietro;
Borland, Holly;
James, Meredith K.;
Bourke, John;
Bettolo, Chiara Marini;
Lofra, Robert Muni;
Diaz-Manera, Jordi;
Tasca, Giorgio;
Schiava, Marianela;
ElSeed, Maha;
Harris, Elizabeth;
Grover, Emma;
Geagan, Chloe;
Diaz, Carla Bolano;
Haagsma, Ariele Barreto;
Salman, Doaa;
Reeves, Tara;
Kocak, Goknur S.;
Robinson, Emma;
Waldock, Peter

Publication type:

Article

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Published in:

Tohoku Journal of Experimental Medicine, 2025, v. 266, n. 1, p. 81, doi. 10.1620/tjem.2024.J137

By:

Takatoshi Sato;
Yuki Kihara;
Kumiko Ishiguro;
Minobu Shichiji;
Terumi Murakami;
Satoru Nagata;
Eriko Shimada;
Kei Inai;
Atsuhito Takeda;
Keiko Ishigaki

Publication type:

Article

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy.

Published in:

2025

By:

Madison, Jacqueline A.;
Ferris, Sean P.;
Kerski, Marianne;
Hile, Grace;
Matossian, Sophia;
Komisar, Cara;
Strouse, Peter J.;
Ames, Elizabeth;
Knierbein, Erin Neil;
Turnier, Jessica L.

Publication type:

Case Study

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1707, doi. 10.1093/brain/awae371

By:

Dofash, Lein N H;
Miles, Lee B;
Saito, Yoshihiko;
Rivas, Eloy;
Calcinotto, Vanessa;
Oveissi, Sara;
Serrano, Rita J;
Templin, Rachel;
Ramm, Georg;
Rodger, Alison;
Haywood, Joel;
Ingley, Evan;
Clayton, Joshua S;
Taylor, Rhonda L;
Folland, Chiara L;
Groth, David;
Hock, Daniella H;
Stroud, David A;
Gorokhova, Svetlana;
Donkervoort, Sandra

Publication type:

Article

Misregulation of the Ubiquitin–Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin–Glycoprotein Complex.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 721, doi. 10.3390/cells14100721

By:

Bozzi, Manuela;
Sciandra, Francesca;
Bigotti, Maria Giulia;
Brancaccio, Andrea

Publication type:

Article

Analysis of gene expression differences between utrophin/dystrophin-deficient vs mdx skeletal muscles reveals a specific upregulation of slow muscle genes in limb muscles.

Published in:

Neurogenetics, 2006, v. 7, n. 2, p. 81, doi. 10.1007/s10048-006-0031-7

By:

Baker, Patrick E.;
Kearney, Jessica A.;
Gong, Bendi;
Merriam, Anita P.;
Kuhn, Donald E.;
Porter, John D.;
Rafael-Fortney, Jill A.

Publication type:

Article

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Published in:

Neurogenetics, 2005, v. 6, n. 1, p. 29, doi. 10.1007/s10048-004-0204-1

By:

Janssen, B.;
Hartmann, C.;
Scholz, V.;
Jauch, A.;
Zschocke, J.

Publication type:

Article

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 27, doi. 10.1007/s10048-003-0165-9

By:

Louhichi, Nacim;
Triki, Chahnez;
Quijano-Roy, Susana;
Richard, Pascale;
Makri, Samira;
Méziou, Mériem;
Estournet, Brigitte;
Mrad, Slah;
Romero, Norma B.;
Ayadi, Hammadi;
Guicheney, Pascale;
Fakhfakh, Faiza

Publication type:

Article

The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M

By:

Maksić, Jasmina;
Maksimović, Nela;
Rasulić, Lukas;
Milankov, Olgica;
Marjanović, Ana;
Cvetković, Dragana;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 187, doi. 10.1038/nsmb.1720

By:

Hongqing Du;
Cline, Melissa S.;
Osborne, Robert J.;
Tuttle, Daniel L.;
Clark, Tyson A.;
Donohue, John Paul;
Hall, Megan P.;
Shiue, Lily;
Swanson, Maurice S.;
Thornton, Charles A.;
Ares, Jr, Manuel

Publication type:

Article

Does the X-Chromosome Carry the Gene Responsible for Bipolar Disorder?

Published in:

Klinik Psikofarmakoloji Bulteni, 2013, v. 23, n. 3, p. 267, doi. 10.5455/bcp.20130318061411

By:

Edgunlu, Tuba Gokdogan;
Duvarci, Ibrahim;
Cetin, Esin Sakalli

Publication type:

Article

Decoding Speech.

Published in:

2024

By:

Menon, R Girish

Publication type:

Editorial

Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1257, doi. 10.4103/0028-3886.391402

By:

Padmanabha, Hansashree;
Arunachal, Gautham;
Kishore, Pratik;
Sharma, P;
Mailankody, Pooja;
Mahale, Rohan;
Nashi, Saraswati;
Mathuranath, P;
Chandra, Sadanandavalli

Publication type:

Article

Spontaneous Conception, Pericardial Effusion, and Pseudohypertrophic Myopathy Mimicking Muscular Dystrophy in Delayed Presentation of Sheehan Syndrome.

Published in:

2020

By:

Boro, Hiya;
Goyal, Alpesh;
Tandon, Nikhil

Publication type:

Case Study

Walker-Warburg syndrome.

Published in:

2018

By:

Suthar, Renu;
Angurana, Suresh K;
Singh, Usha;
Singh, Paramjeet

Publication type:

journal article

Targeted next generation sequencing reveals novel splice site mutations in gene in a patient with congenital muscular dystrophy.

Published in:

2018

By:

Das Bhowmik, Aneek;
Tallapaka, Karthik;
Uppin, Megha;
Sundaram, Challa;
Dala, Ashwin

Publication type:

Case Study

Change in the natural profile of Duchenne muscular dystrophy with the judicious use of steroids.

Published in:

2018

By:

Pradhan, Sunil;
Das, Ananya

Publication type:

Letter

Well-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosis.

Published in:

Journal of Assisted Reproduction & Genetics, 2007, v. 24, n. 6, p. 233, doi. 10.1007/s10815-007-9111-3

By:

Nakabayashi, Akira;
Kou Sueoka;
Tajima, Hiroto;
Sato, Kenji;
Sakamoto, Yoshiaki;
Shingo Katou;
Yoshimura, Yasunori

Publication type:

Article

Turning Blood into Gold: The Wellness Chip.

Published in:

Bio-IT World, 2011, v. 10, n. 4, p. 25

By:

DAVIES, KEVIN

Publication type:

Article

News Blast.

Published in:: Bio-IT World, 2005, v. 4, n. 8, p. 12
Publication type:: Article

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09746-5

By:

Faheem, Ali;
Masud, Rizwan;
Nasir, Rabea;
Awan, Zeeshan Khalid;
Nasir, Hammad Ali;
Khan, Zara Khalid;
Fayyaz, Hajra;
Raza, Syed Irfan

Publication type:

Article

Determination of Tissue Potassium and Sodium Concentrations in Dystrophic Skeletal Muscle Tissue Using Combined Potassium (<sup>39</sup>K) and Sodium (<sup>23</sup>Na) MRI at 7 T.

Published in:

NMR in Biomedicine, 2025, v. 38, n. 4, p. 1, doi. 10.1002/nbm.70009

By:

Gast, Lena V.;
Gerhalter, Teresa;
Türk, Matthias;
Sapli, Alper;
Mathy, Claudius S.;
Heiss, Rafael;
Baudin, Pierre‐Yves;
Marty, Benjamin;
Uder, Michael;
Nagel, Armin M.

Publication type:

Article

Comprehensive quantitative magnetic resonance imaging assessment of skeletal muscle pathophysiology in golden retriever muscular dystrophy: Insights from multicomponent water T2 and extracellular volume fraction.

Published in:

NMR in Biomedicine, 2025, v. 38, n. 1, p. 1, doi. 10.1002/nbm.5278

By:

Caldas de Almeida Araujo, Ericky;
Barthélémy, Inès;
Fromes, Yves;
Baudin, Pierre‐Yves;
Blot, Stéphane;
Reyngoudt, Harmen;
Marty, Benjamin

Publication type:

Article

Quantitative muscle magnetic resonance imaging in limb‐girdle muscular dystrophy type R1 (LGMDR1): A prospective longitudinal cohort study.

Published in:

NMR in Biomedicine, 2024, v. 37, n. 10, p. 1, doi. 10.1002/nbm.5172

By:

Forsting, Johannes;
Wächter, Marian;
Froeling, Martijn;
Rohm, Marlena;
Güttsches, Anne‐Katrin;
De Lorenzo, Alice;
Südkamp, Nicolina;
Kocabas, Abdulhadi;
Vorgerd, Matthias;
Enax‐Krumova, Elena;
Rehmann, Robert;
Schlaffke, Lara

Publication type:

Article

Beyond sports: Efficacy and safety of creatine supplementation in pathological or paraphysiological conditions of brain and muscle.

Published in:

Medicinal Research Reviews, 2019, v. 39, n. 6, p. 2427, doi. 10.1002/med.21590

By:

Balestrino, Maurizio;
Adriano, Enrico

Publication type:

Article

Diagnostic and Prognostic Value of Cardiovascular Magnetic Resonance in Neuromuscular Cardiomyopathies.

Published in:

Pediatric Cardiology, 2022, v. 43, n. 1, p. 27, doi. 10.1007/s00246-021-02686-y

By:

Almogheer, Batool;
Antonopoulos, Alexios S.;
Azzu, Alessia;
Al Mohdar, Safaa;
Vlachopoulos, Charalambos;
Pantazis, Antonios;
Mohiaddin, Raad H.

Publication type:

Article

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138

By:

Barbara M. van der Sluijs;
Baziel G.M. van Engelen;
Lies H. Hoefsloot

Publication type:

Article

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 geneCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #609 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138

By:

Barbara M. van der Sluijs;
Baziel G.M. van Engelen;
Lies H. Hoefsloot

Publication type:

Article

Effects of single and combined metformin and L-citrulline supplementation on L-arginine-related pathways in Becker muscular dystrophy patients: possible biochemical and clinical implications.

Published in:

Amino Acids, 2018, v. 50, n. 10, p. 1391, doi. 10.1007/s00726-018-2614-7

By:

Hanff, Erik;
Hafner, Patricia;
Bollenbach, Alexander;
Bonati, Ulrike;
Kayacelebi, Arslan Arinc;
Fischer, Dirk;
Tsikas, Dimitrios

Publication type:

Article

Creatine as a therapeutic strategy for myopathies.

Published in:

Amino Acids, 2011, v. 40, n. 5, p. 1397, doi. 10.1007/s00726-011-0876-4

By:

Tarnopolsky, M.

Publication type:

Article

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function.

Published in:

Audiology & Neurotology, 2008, v. 13, n. 1, p. 1, doi. 10.1159/000107431

By:

Trevisan, Carlo P.;
Pastorello, Ebe;
Ermani, Mario;
Angelini, Corrado;
Tomelleri, Giuliano;
Tonin, Paola;
Mongini, Tiziana;
Palmucci, Laura;
Galluzzi, Giuliana;
Tupler, Rossella G.;
Marioni, Gino;
Rimini, Alessandro

Publication type:

Article

Investigating the differential structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants of muscular dystrophy.

Published in:

Biochemical Journal, 2024, v. 481, n. 23, p. 1803, doi. 10.1042/BCJ20240474

By:

Dutta, Subarna;
Kumar, Vikas;
Barua, Arnab;
Vasudevan, Madavan

Publication type:

Article

Calcium binds and rigidifies the dysferlin C2A domain in a tightly coupled manner.

Published in:

Biochemical Journal, 2021, v. 478, n. 1, p. 197, doi. 10.1042/BCJ20200773

By:

Yuning Wang;
Tadayon, Roya;
Santamaria, Liliana;
Mercier, Pascal;
Forristal, Chantal J.;
Shaw, Gary S.

Publication type:

Article

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community.

Published in:

Open Journal of Bioresources, 2017, v. 4, p. 1, doi. 10.5334/ojb.29

By:

Mora, Marina;
Bragato, Cinzia;
Gibertini, Sara;
Zanotti, Simona;
Curcio, Maurizio;
Canioni, Eleonora;
Salerno, Franco;
Blasevich, Flavia;
Saredi, Simona;
Ruggieri, Alessandra;
Pasanisi, Maria Barbara;
Bernasconi, Pia;
Maggi, Lorenzo;
Mantegazza, Renato;
Andreetta, Francesca

Publication type:

Article

Crystal structure of progeria mutant S143F lamin A/C reveals increased hydrophobicity driving nuclear deformation.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03212-3

By:

Ahn, Jinsook;
Jeong, Soyeon;
Kang, So-mi;
Jo, Inseong;
Park, Bum-Joon;
Ha, Nam-Chul

Publication type:

Article

Classification of Muscular Dystrophies from MR Images Improves Using the Swin Transformer Deep Learning Model.

Published in:

Bioengineering (Basel), 2024, v. 11, n. 6, p. 580, doi. 10.3390/bioengineering11060580

By:

Mastropietro, Alfonso;
Casali, Nicola;
Taccogna, Maria Giovanna;
D'Angelo, Maria Grazia;
Rizzo, Giovanna;
Peruzzo, Denis

Publication type:

Article

Quantification of Intra-Muscular Adipose Infiltration in Calf/Thigh MRI Using Fully and Weakly Supervised Semantic Segmentation.

Published in:

Bioengineering (Basel), 2022, v. 9, n. 7, p. 315, doi. 10.3390/bioengineering9070315

By:

Amer, Rula;
Nassar, Jannette;
Trabelsi, Amira;
Bendahan, David;
Greenspan, Hayit;
Ben-Eliezer, Noam

Publication type:

Article

Life Satisfaction among People with Progressive Disabilities.

Published in:

Journal of Rehabilitation, 2009, v. 75, n. 2, p. 50

By:

Chen, Roy K.;
Crewe, Nancy M.

Publication type:

Article

The Effect of a Telethon On Attitudes Toward Disabled People and Financial Contributors.

Published in:

Journal of Rehabilitation, 1985, v. 51, n. 3

By:

Feldman, David;
Feldman, Brian

Publication type:

Article

“Please Call Now, Before It's Too Late”: Spectacle Discourse in the Jerry Lewis Muscular Dystrophy Telethon.

Published in:

Journal of Popular Culture (Wiley-Blackwell), 2003, v. 36, n. 4, p. 687, doi. 10.1111/1540-5931.00041

By:

Smith, Christopher R.

Publication type:

Article

Selenium Supplements in Salt for Sheep

Published in:

Journal of Animal Science, 1978, v. 46, n. 6, p. 1515

By:

Tilton, J. E.;
Magee, W. T.;
Brady, P. S.;
Ullrey, D. E.;
Whetter, P. A.;
Light, M. R.;
Henneman, H. A.

Publication type:

Article

A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.

Published in:

Journal of Neurogenetics, 2016, v. 30, n. 1, p. 1, doi. 10.3109/01677063.2016.1141208

By:

Mojbafan, Marzieh;
Nilipour, Yalda;
Tonekaboni, Seyed Hasan;
Bagheri, Samira Dabbagh;
Bagherian, Hamideh;
Sharifi, Zohreh;
Zeinali, Zahra;
Tavakkoly-Bazzaz, Javad;
Zeinali, Sirous

Publication type:

Article

Prospective observational study of FKRP‐related limb‐girdle muscular dystrophy R9: A GRASP consortium study.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 2, p. 332, doi. 10.1002/acn3.52276

By:

Alfano, Lindsay N.;
James, Meredith K.;
Grosfjeld Petersen, Kristine;
Rudolf, Karen;
Vissing, John;
Augsburger, Renee;
Mozaffar, Tahseen;
Jones, Aileen;
Butler, Amanda;
Laubscher, Katie M.;
Mockler, Shelley R. H.;
Mathews, Katherine D.;
Iammarino, Megan A.;
Reash, Natalie F.;
Pietruszewski, Lindsay;
Lowes, Linda P.;
Strahler, Talia;
Wicklund, Matthew;
Hunn, Stephanie;
Weihl, Conrad C.

Publication type:

Article

Muscular dystrophy patients show low exercise‐induced blood flow in muscles with normal strength.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 11, p. 2866, doi. 10.1002/acn3.52194

By:

Gera, Orna;
Shavit‐Stein, Efrat;
Amichai, Taly;
Chapman, Joab;
Chorin, Odelia;
Greenbaum, Lior;
Dori, Amir

Publication type:

Article