Works matching DE "FACIOSCAPULOHUMERAL muscular dystrophy"

Results: 885

Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy.

Published in:

Nature Structural & Molecular Biology, 2013, v. 20, n. 6, p. 671, doi. 10.1038/nsmb.2571

By:

Stadler, Guido;
Rahimov, Fedik;
King, Oliver D;
Chen, Jennifer C J;
Robin, Jerome D;
Wagner, Kathryn R;
Shay, Jerry W;
Emerson, Charles P;
Wright, Woodring E

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

Duchenne muscular dystrophy: Still an incurable disease.

Published in:

2019

By:

Arora, Harneet

Publication type:

journal article

What's in a Smile? Politicizing Disability through Selfies and Affect.

Published in:

Journal of Computer-Mediated Communication, 2019, v. 24, n. 1, p. 36, doi. 10.1093/jcmc/zmy023

By:

Yadlin-Segal, Aya

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

Cardiac Phenotype–Genotype Associations in DMD/BMD: A Meta-Analysis and Systematic Review.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 1, p. 189, doi. 10.1007/s00246-020-02470-4

By:

Zhou, Huan;
Fu, Manli;
Mao, Bing;
Yuan, Li

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

SMCHD1’s ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.

Published in:

Biochemical Journal, 2021, v. 478, n. 13, p. 2555, doi. 10.1042/BCJ20210278

By:

Gurzau, Alexandra D.;
Horne, Christopher R.;
Mok, Yee-Foong;
Iminitoff, Megan;
Willson, Tracy A.;
Young, Samuel N.;
Blewitt, Marnie E.;
Murphy, James M.

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

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 10, p. 2745, doi. 10.1002/acn3.52189

By:

Di Feo, Maria Francesca;
Oghabian, Ali;
Nippala, Ella;
Gautel, Mathias;
Jungbluth, Heinz;
Forzano, Francesca;
Malfatti, Edoardo;
Castiglioni, Claudia;
Krey, Ilona;
Gomez Andres, David;
Brady, Angela F.;
Iascone, Maria;
Cereda, Anna;
Pezzani, Lidia;
Natera De Benito, Daniel;
Nascimiento Osorio, Andres;
Estévez Arias, Berta;
Kurbatov, Sergei A.;
Attie‐Bitach, Tania;
Nampoothiri, Sheela

Publication type:

Article

Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2092, doi. 10.1002/acn3.51896

By:

Nallamilli, Babi R. R.;
Pan, Yinghong;
Sniderman King, Lisa;
Jagannathan, Lakshmanan;
Ramachander, Vinish;
Lucas, Ann;
Markind, Jan;
Colzani, Raffaella;
Hegde, Madhuri

Publication type:

Article

Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1383, doi. 10.1002/acn3.51829

By:

Tavakoli, Norma P.;
Gruber, Dorota;
Armstrong, Niki;
Chung, Wendy K.;
Maloney, Breanne;
Park, Sunju;
Wynn, Julia;
Koval‐Burt, Carrie;
Verdade, Lorraine;
Tegay, David H.;
Cohen, Lilian L.;
Shapiro, Natasha;
Kennedy, Annie;
Noritz, Garey;
Ciafaloni, Emma;
Weinberger, Barry;
Ellington, Marty;
Schleien, Charles;
Spinazzola, Regina;
Sood, Sunil

Publication type:

Article

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 426, doi. 10.1002/acn3.51733

By:

Lin, Feng;
Yang, Kang;
Lin, Min‐ting;
Zheng, Fu‐ze;
Chen, Long;
Ding, Yuan‐liang;
Ye, Zhi‐xian;
Lin, Xin;
Wang, Ning;
Wang, Zhi‐qiang

Publication type:

Article

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 408, doi. 10.1002/acn3.51731

By:

Natera‐de Benito, Daniel;
Olival, Jonathan;
Garcia‐Cabau, Carla;
Jou, Cristina;
Roldan, Mònica;
Codina, Anna;
Expósito‐Escudero, Jessica;
Batlle, Cristina;
Carrera‐García, Laura;
Ortez, Carlos;
Salvatella, Xavier;
Palau, Francesc;
Nascimento, Andrés;
Hoenicka, Janet

Publication type:

Article

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 10, p. 1660, doi. 10.1002/acn3.51665

By:

Johari, Mridul;
Papadimas, George;
Papadopoulos, Constantinos;
Xirou, Sophia;
Kanavaki, Aikaterini;
Chrysanthou‐Piterou, Margarita;
Rusanen, Salla;
Savarese, Marco;
Hackman, Peter;
Udd, Bjarne

Publication type:

Article

GGPS1-associated muscular dystrophy with and without hearing loss.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633

By:

Kaiyrzhanov, Rauan;
Perry, Luke;
Rocca, Clarissa;
Zaki, Maha S.;
Hosny, Heba;
Martins Moreno, Cristiane Araujo;
Phadke, Rahul;
Zaharieva, Irina;
Camelo Gontijo, Clara;
Beetz, Christian;
Pini, Veronica;
Movahedinia, Mojtaba;
Zanoteli, Edmar;
DiTroia, Stephanie;
Vuillaumier-Barrot, Sandrine;
Isapof, Arnaud;
Mehrjardi, Mohammad Yahya Vahidi;
Ghasemi, Nasrin;
Sarkozy, Anna;
Muntoni, Francesco

Publication type:

Article

Transcriptome analysis of collagen VI‐related muscular dystrophy muscle biopsies.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2184, doi. 10.1002/acn3.51450

By:

Guadagnin, Eleonora;
Mohassel, Payam;
Johnson, Kory R.;
Yang, Lin;
Santi, Mariarita;
Uapinyoying, Prech;
Dastgir, Jahannaz;
Hu, Ying;
Dillmann, Allissa;
Cookson, Mark R.;
Foley, A. Reghan;
Bönnemann, Carsten G.

Publication type:

Article

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454

By:

Calame, Daniel G.;
Fatih, Jawid M.;
Herman, Isabella;
Coban‐Akdemir, Zeynep;
Du, Haowei;
Mitani, Tadahiro;
Jhangiani, Shalini N.;
Marafi, Dana;
Gibbs, Richard A.;
Posey, Jennifer E.;
Mehta, Vidya P.;
Mohila, Carrie A.;
Abid, Farida;
Lotze, Timothy E.;
Pehlivan, Davut;
Adesina, Adekunle M.;
Lupski, James R.

Publication type:

Article

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 757, doi. 10.1002/acn3.51042

By:

Murphy, Lindsay B.;
Schreiber‐Katz, Olivia;
Rafferty, Karen;
Robertson, Agata;
Topf, Ana;
Willis, Tracey A.;
Heidemann, Marcel;
Thiele, Simone;
Bindoff, Laurence;
Laurent, Jean‐Pierre;
Lochmüller, Hanns;
Mathews, Katherine;
Mitchell, Claudia;
Stevenson, John Herbert;
Vissing, John;
Woods, Lacey;
Walter, Maggie C.;
Straub, Volker

Publication type:

Article

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 4, p. 642, doi. 10.1002/acn3.738

By:

Dominov, Janice A.;
Uyan, Özgün;
McKenna‐Yasek, Diane;
Nallamilli, Babi Ramesh Reddy;
Kergourlay, Virginie;
Bartoli, Marc;
Levy, Nicolas;
Hudson, Judith;
Evangelista, Teresinha;
Lochmuller, Hanns;
Krahn, Martin;
Rufibach, Laura;
Hegde, Madhuri;
Brown, Robert H.

Publication type:

Article

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 12, p. 1574, doi. 10.1002/acn3.649

By:

Nallamilli, Babi Ramesh Reddy;
Chakravorty, Samya;
Kesari, Akanchha;
Tanner, Alice;
Ankala, Arunkanth;
Schneider, Thomas;
da Silva, Cristina;
Beadling, Randall;
Alexander, John J.;
Askree, Syed Hussain;
Whitt, Zachary;
Bean, Lora;
Collins, Christin;
Khadilkar, Satish;
Gaitonde, Pradnya;
Dastur, Rashna;
Wicklund, Matthew;
Mozaffar, Tahseen;
Harms, Matthew;
Rufibach, Laura

Publication type:

Article

Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 2, p. 151, doi. 10.1002/acn3.158

By:

Homma, Sachiko;
Beermann, Mary Lou;
Boyce, Frederick M.;
Miller, Jeffrey Boone

Publication type:

Article

IL10 hypomethylation is associated with the risk of gastric cancer.

Published in:

Oncology Letters, 2021, v. 21, n. 4, p. N.PAG, doi. 10.3892/ol.2021.12502

By:

Tang, Junjian;
Pan, Ranran;
Xu, Lele;
Ma, Qinghua;
Ying, Xiuru;
Zhao, Jun;
Zhao, Haibin;
Miao, Li;
Xu, Yue;
Duan, Shiwei;
Wang, Jinzhi

Publication type:

Article

Impact of chromosome 17 centromere copy number increase on patient survival and human epidermal growth factor receptor 2 expression in gastric adenocarcinoma.

Published in:

Oncology Letters, 2021, v. 21, n. 2, p. 1, doi. 10.3892/ol.2020.12403

By:

CIESIELSKI, MACIEJ;
SZAJEWSKI, MARIUSZ;
WALCZAK, JAKUB;
PĘKSA, RAFAŁ;
LENCKOWSKI, RADOSŁAW;
SUPEŁ, MAŁGORZATA;
ZIELIŃSKI, JACEK;
KRUSZEWSKI, WIESŁAW JANUSZ

Publication type:

Article

Overexpression of NCAPH is upregulated and predicts a poor prognosis in prostate cancer.

Published in:

Oncology Letters, 2019, v. 17, n. 6, p. 5768

By:

Cui, Feilun;
Hu, Jianpeng;
Xu, Zhipeng;
Tan, Jian;
Tang, Huaming

Publication type:

Article

An overview of the role of telomeres and telomerase in pre-neoplastic lesions (Review).

Published in:

Molecular & Clinical Oncology, 2023, v. 19, n. 2, p. 1, doi. 10.3892/mco.2023.2657

By:

KARAVITI, ELEFTHERIA;
KONTOGIANNIS, ATHANASIOS;
ANASTOPOULOS, ARISTOTELIS;
KOTTEAS, ELIAS;
GOMATOU, GEORGIA

Publication type:

Article

Dropped head syndrome in amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3, p. 232, doi. 10.3109/17482968.2012.727424

By:

Uemura, Masahiro;
Kosaka, Takayuki;
Shimohata, Takayoshi;
Ishikawa, Masanori;
Nishihira, Yasushi;
Toyoshima, Yasuko;
Yanagawa, Kaori;
Kawachi, Izumi;
Takahashi, Hitoshi;
Nishizawa, Masatoyo

Publication type:

Article

Production of Proliferation- and Differentiation-Competent Porcine Myoblasts for Preclinical Studies in a Porcine Large Animal Model of Muscular Insufficiency.

Published in:

Life (2075-1729), 2024, v. 14, n. 2, p. 212, doi. 10.3390/life14020212

By:

Knoll, Jasmin;
Amend, Bastian;
Abruzzese, Tanja;
Harland, Niklas;
Stenzl, Arnulf;
Aicher, Wilhelm K.

Publication type:

Article

Nuclear Small Dystrophin Isoforms during Muscle Differentiation.

Published in:

Life (2075-1729), 2023, v. 13, n. 6, p. 1367, doi. 10.3390/life13061367

By:

Donandt, Tina;
Todorow, Vanessa;
Hintze, Stefan;
Graupner, Alexandra;
Schoser, Benedikt;
Walter, Maggie C.;
Meinke, Peter

Publication type:

Article

Correlation analysis between genotype and phenotype of patients with facioscapulohumeral muscular dystrophy type 1.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 5, p. 336, doi. 10.3969/j.issn.1672-6731.2019.05.007

By:

LI Huan;
CHEN Qiu;
LIN Jin-fu;
LIAO Zi-yu;
WANG Liang;
LI Jing;
ZHU Yu-ling;
ZHANG Cheng

Publication type:

Article

The history of research on facioscapulohumeral muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 5, p. 299, doi. 10.3969/j.issn.1672-6731.2019.05.003

By:

ZHANG Cheng;
LI Huan

Publication type:

Article

Brief report Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD).

Published in:

Neuropathology & Applied Neurobiology, 2004, v. 30, n. 2, p. 188, doi. 10.1046/j.0305-1846.2003.00520.x

By:

Wood-Allum, C.;
Brennan, P.;
Hewitt, M.;
Lowe, J.;
Tyfields, L.;
Wills, A.

Publication type:

Article

Coats like response in healed choroiditis.

Published in:

2022

By:

Verma, Saurabh;
Bhatia, Indrish;
Banerjee, Mousumi;
Kumar, Vinod

Publication type:

Case Study

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy.

Published in:

Case Reports in Neurological Medicine, 2012, p. 1, doi. 10.1155/2012/726984

By:

Fee, Dominic B.

Publication type:

Article

Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.

Published in:

Neurosciences, 2020, v. 25, n. 3, p. 214, doi. 10.17712/nsj.2020.3.20200002

By:

Aldosari, Khalid H.;
Al-Ghamdi, Sameer;
Alkhathlan, Khalid M.;
Alkhalidi, Hisham M.

Publication type:

Article

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1258831

By:

Jieni Jiang;
Xiaotang Cai;
Haibo Qu;
Qiang Yao;
Tiantian He;
Mei Yang;
Hui Zhou;
Xuemei Zhang

Publication type:

Article

Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1230770

By:

Suslov, V. M.;
Lieberman, L. N.;
Carlier, P. G.;
Ponomarenko, G. N.;
Ivanov, D. O.;
Rudenko, D. I.;
Suslova, G. A.;
Adulas, E. I.

Publication type:

Article

Automated MRI quantification of volumetric per-muscle fat fractions in the proximal leg of patients with muscular dystrophies.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1200727

By:

Huysmans, Lotte;
De Wel, Bram;
Claeys, Kristl G.;
Maes, Frederik

Publication type:

Article

Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1183147

By:

Zambrano, Ana Karina;
Paz-Cruz, Elius;
Cadena-Ullauri, Santiago;
Guevara-Ramírez, Patricia;
Ruiz-Pozo, Viviana A.;
Tamayo-Trujillo, Rafael;
Ibarra-Castillo, Rita;
Laso-Bayas, José Luis;
Doménech, Nieves;
Ibarra-Rodríguez, Adriana Alexandra;
Hidalgo, Ricardo

Publication type:

Article

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery–Dreifuss Muscular Dystrophy: A Case Report and Literature Review.

Published in:

2022

By:

Tang, Ziyang;
Hu, Zongshan;
Qin, Xiaodong;
Zhu, Zezhang;
Liu, Zhen

Publication type:

Case Study

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot.

Published in:

Genes, 2025, v. 16, n. 1, p. 29, doi. 10.3390/genes16010029

By:

Zampatti, Stefania;
Farro, Juliette;
Peconi, Cristina;
Cascella, Raffaella;
Strafella, Claudia;
Calvino, Giulia;
Megalizzi, Domenica;
Trastulli, Giulia;
Caltagirone, Carlo;
Giardina, Emiliano

Publication type:

Article

Hereditary Neuromuscular Disorders in Reproductive Medicine.

Published in:

Genes, 2024, v. 15, n. 11, p. 1409, doi. 10.3390/genes15111409

By:

Luglio, Agnese;
Maggi, Elena;
Riviello, Francesco Nicola;
Conforti, Alessandro;
Sorrentino, Ugo;
Zuccarello, Daniela

Publication type:

Article

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Published in:

Genes, 2023, v. 14, n. 12, p. 2166, doi. 10.3390/genes14122166

By:

Kovanda, Anja;
Lovrečić, Luca;
Rudolf, Gorazd;
Babic Bozovic, Ivana;
Jaklič, Helena;
Leonardis, Lea;
Peterlin, Borut

Publication type:

Article

SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.

Published in:

2023

By:

Brunetti, Barbara;
Bacci, Barbara;
Abbate, Jessica Maria;
Tura, Giorgia;
Paciello, Orlando;
Vaccaro, Emanuela;
Prisco, Francesco;
Gandini, Gualtiero;
Okonji, Samuel;
Paola, Andrea di;
Letko, Anna;
Drögemüller, Cord;
Jagannathan, Vidhya;
Turba, Maria Elena;
Ogundipe, Tolulope Grace;
Lorenzini, Luca;
Rosati, Marco;
Psalla, Dimitra;
Leeb, Tosso;
Drögemüller, Michaela

Publication type:

Case Study

Current Classification of Canine Muscular Dystrophies and Identification of New Variants.

Published in:

Genes, 2023, v. 14, n. 8, p. 1557, doi. 10.3390/genes14081557

By:

Shelton, G. Diane;
Minor, Katie M.;
Friedenberg, Steven G.;
Cullen, Jonah N.;
Guo, Ling T.;
Mickelson, James R.

Publication type:

Article

Transcriptome Analysis of Leg Muscles and the Effects of ALOX5 on Proliferation and Differentiation of Myoblasts in Haiyang Yellow Chickens.

Published in:

Genes, 2023, v. 14, n. 6, p. 1213, doi. 10.3390/genes14061213

By:

Yin, Xumei;
Fang, Wenna;
Yuan, Manman;
Sun, Hao;
Wang, Jinyu

Publication type:

Article

Young Onset Alzheimer's Disease Associated with C9ORF72 Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association.

Published in:

Genes, 2023, v. 14, n. 4, p. 930, doi. 10.3390/genes14040930

By:

Vinceti, Giulia;
Gallingani, Chiara;
Zucchi, Elisabetta;
Martinelli, Ilaria;
Gianferrari, Giulia;
Simonini, Cecilia;
Bedin, Roberta;
Chiari, Annalisa;
Zamboni, Giovanna;
Mandrioli, Jessica

Publication type:

Article

Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue.

Published in:

2023

By:

Politano, Luisa;
Santorelli, Filippo M.

Publication type:

Editorial

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Published in:

2023

By:

Park, Joonhong;
Moon, Young Jae;
Kim, Dal Sik

Publication type:

Case Study

Myotonic Dystrophies: A Genetic Overview.

Published in:

Genes, 2022, v. 13, n. 2, p. 367, doi. 10.3390/genes13020367

By:

Soltanzadeh, Payam

Publication type:

Article