Works matching DE "BECKER muscular dystrophy"

Results: 425

Clinical and demographic characteristics of Becker muscular dystrophy cases.

Published in:

Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2025, v. 19, n. 3, p. 123, doi. 10.12956/tchd.1557901

By:

Güzin, Yiğithan;
Doğan, Sevcan Deniz;
Uzan, Gamze Sarıkaya;
Doğan, Gizem;
Özyılmaz, Berk;
Tuncay, Bakiye;
Baydan, Figen

Publication type:

Article

CASE REPORT Orthodontic treatment of a case of Becker muscular dystrophy.

Published in:

Orthodontics & Craniofacial Research, 2004, v. 7, n. 1, p. 55, doi. 10.1046/j.1601-6335.2003.00271.x

By:

Suda, N.;
Matsuda, A.;
Yoda, S.;
Ishizaki, T.;
Higashibori, N.;
Kim, F.;
Otani-Saito, K.;
Ohyama, K.

Publication type:

Article

Molecular Analysis of Algerian Patients with Duchenne and Becker Muscular Dystrophy.

Published in:

South Asian Journal of Experimental Biology, 2020, v. 10, n. 3, p. 176, doi. 10.38150/sajeb.10(3).p176-182

By:

Nadira, Hamdouche;
Yamina, Sifi;
Djahida, Mahdi;
Imen, Dalichaouche;
Karima, Sifi;
Noureddine, Abadi;
Abderrahim, M' Zahem;
Dalila, Satta

Publication type:

Article

A - 45 Duchenne and Becker Muscular Dystrophy: Sibling Case Studies.

Published in:

2024

By:

Zhang, Luyu;
Kiefel, Jacqueline;
Mattox, Sarah;
Verma, Sumit;
Logan, Rachel

Publication type:

Case Study

Engaging patients and caregivers in prioritizing symptoms impacting quality of life for Duchenne and Becker muscular dystrophy.

Published in:

2018

By:

Hollin, Ilene L.;
Peay, Holly;
Fischer, Ryan;
Janssen, Ellen M.;
Bridges, John F. P.

Publication type:

journal article

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2088

By:

Ulm, Elizabeth A.;
Nagaraj, Chinmayee B.;
Tian, Cuixia;
Smolarek, Teresa A.

Publication type:

Article

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1759

By:

Guevara‐Fujita, María Luisa;
Huaman‐Dianderas, Francia;
Obispo, Daisy;
Sánchez, Rodrigo;
Barrenechea, Victor;
Rojas‐Málaga, Diana;
Estrada‐Cuzcano, Alejandro;
Trubnykova, Milana;
Cornejo‐Olivas, Mario;
Marca, Victoria;
Gallardo, Bertha;
Dueñas‐Roque, Milagros;
Protzel, Ana;
Castañeda, Carlos;
Abarca, Hugo;
Celis, Luis;
La Serna‐Infantes, Jorge;
Fujita, Ricardo

Publication type:

Article

Genetics and genomic medicine in Argentina.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.571

By:

Cotignola, Javier;
Rozental, Sandra;
Buzzalino, Noemí;
Dain, Liliana

Publication type:

Article

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.

Published in:

Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 539, doi. 10.1002/mgg3.108

By:

Baskin, Berivan;
Stavropoulos, Dimitri J.;
Rebeiro, Paige A.;
Orr, Jennifer;
Li, Martin;
Steele, Leslie;
Marshall, Christian R.;
Lemire, Edmond G.;
Boycott, Kym M.;
Gibson, William;
Ray, Peter N.

Publication type:

Article

Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-51906-x

By:

Piñol-Jurado, Patricia;
Verdú-Díaz, José;
Fernández-Simón, Esther;
Domínguez-González, Cristina;
Hernández-Lain, Aurelio;
Lawless, Conor;
Vincent, Amy;
González-Chamorro, Alejandro;
Villalobos, Elisa;
Monceau, Alexandra;
Laidler, Zoe;
Mehra, Priyanka;
Clark, James;
Filby, Andrew;
McDonald, David;
Rushton, Paul;
Bowey, Andrew;
Alonso Pérez, Jorge;
Tasca, Giorgio;
Marini-Bettolo, Chiara

Publication type:

Article

Cellular Transplantation Alters the Disease Progression in Becker's Muscular Dystrophy.

Published in:

Case Reports in Transplantation, 2013, p. 1, doi. 10.1155/2013/909328

By:

Sharma, Alok;
Paranjape, Amruta;
Sane, Hemangi;
Bhagawanani, Khushboo;
Gokulchandran, Nandini;
Badhe, Prerna

Publication type:

Article

The Duchenne muscular dystrophy gene and cancer.

Published in:

Cellular Oncology (2211-3428), 2021, v. 44, n. 1, p. 19, doi. 10.1007/s13402-020-00572-y

By:

Jones, Leanne;
Naidoo, Michael;
Machado, Lee R.;
Anthony, Karen

Publication type:

Article

İlk Tanısı Otizm Olan Bir Becker Musküler Distrofisi Olgusu.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2012, v. 25, n. 1, p. 74, doi. 10.5350/DAJPN2012250110

By:

Senem Başgül, Şaz¡ye;
Saltik, Sema

Publication type:

Article

Cardiac Niche Influences the Direct Reprogramming of Canine Fibroblasts into Cardiomyocyte-Like Cells.

Published in:

Thrombosis, 2015, p. 1, doi. 10.1155/2016/4969430

By:

Palazzolo, Giacomo;
Quattrocelli, Mattia;
Toelen, Jaan;
Dominici, Roberto;
Anastasia, Luigi;
Tettamenti, Guido;
Barthelemy, Inès;
Blot, Stephane;
Gijsbers, Rik;
Cassano, Marco;
Sampaolesi, Maurilio

Publication type:

Article

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.

Published in:

BMC Research Notes, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13104-019-4730-1

By:

Iskandar, Kristy;
Dwianingsih, Ery Kus;
Pratiwi, Linda;
Kalim, Alvin Santoso;
Mardhiah, Hasna;
Putranti, Alifiani H.;
Nurputra, Dian K.;
Triono, Agung;
Herini, Elisabeth S.;
Malueka, Rusdy G.;
Gunadi;
Lai, Poh San;
Sunartini

Publication type:

Article

Analysis of Dystrophin Gene Deletions Indicates that the Hinge III Region of the Protein Correlates with Disease Severity.

Published in:

Annals of Human Genetics, 2005, v. 69, n. 3, p. 253, doi. 10.1046/J.1469-1809.2005.00160.x

By:

Carsana, A.;
Frisso, G.;
Tremolaterra, M. R.;
Lanzillo, R.;
Vitale, D. F.;
Santoro, L.;
Salvatore, F.

Publication type:

Article

Serial case report: Becker's muscular dystrophy phenotype with dilated cardiomyopathy in patients with out-of-frame deletion involving exons 38-43 of DMD gene.

Published in:

Neurology Asia, 2021, v. 26, n. 1, p. 153

By:

Rahmawati, Putu Lohita;
Sri Wijayanti, Ida Ayu;
Arimbawa, I. Komang;
Purwata, Thomas Eko;
Putra, IGN Purna;
Juli Sumadi, I. Wayan;
Wiratnaya, Gede Eka;
Putra Swi Antara, I. Made;
Dwianingsih, Ery Kus

Publication type:

Article

Exercise induced cramps and myoglobinuria in dystrophinopathy -- a report of three Malaysian patients.

Published in:

Neurology Asia, 2010, v. 15, p. 125

By:

Annuar, Azlina Ahmad;
Kum Thong Wong;
Ai Sze Ching;
Meow Keong Thong;
Sau Wei Wong;
Alsiddiq, Feizel;
Lai Choo Ong;
Khean Jin Goh

Publication type:

Article

Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.

Published in:

Neurology Asia, 2010, v. 15, n. 1, p. 19

By:

Tan, Jin-Ai Mary Anne;
Chan, James Hsian-Meng;
Kim-Lian Tan;
Annuar, Azlina Ahmad;
Moon-Keen Lee;
Khean-Jin Goh;
Kum-Thong Wong

Publication type:

Article

磁共振成像在肌营养不良疾病诊断中的应用价值.

Published in:

Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 11, p. 1231, doi. 10.7499/j.issn.1008-8830.2206052

By:

唐静;
张家鹏;
杨学军;
钟京梓;
谢彦舒;
孟琦;
蓝丹

Publication type:

Article

A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 6, p. 602, doi. 10.7499/j.issn.1008-8830.1912133

By:

NIU Huan-Hong;
TAO Dong-Ying;
CHENG Sheng-Quan

Publication type:

Article

Weakness and Fatigue in Diverse Neuromuscular Diseases.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 10, p. 1277, doi. 10.1177/0883073813493663

By:

Montes, Jacqueline;
Blumenschine, Michelle;
Dunaway, Sally;
Alter, Aliza S.;
Engelstad, Kristin;
Rao, Ashwini K.;
Chiriboga, Claudia A.;
Sproule, Douglas M.;
Vivo, Darryl C. De

Publication type:

Article

Use of Complementary and Alternative Medicine by Males With Duchenne or Becker Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 6, p. 734, doi. 10.1177/0883073811426501

By:

Nabukera, Sarah K.;
Romitti, Paul A.;
Campbell, Kimberly A.;
Meaney, F. John;
Caspers, Kristin M.;
Mathews, Katherine D.;
Sherlock, Stacey M. Hockett;
Puzhankara, Soman;
Cunniff, Christopher;
Druschel, Charlotte M.;
Pandya, Shree;
Matthews, Dennis J.;
Ciafaloni, Emma

Publication type:

Article

End-Stage Cardiac Disease as an Initial Presentation of Systemic Myopathies: Case Series and Literature Review.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 11, p. 1382, doi. 10.1177/0883073810367683

By:

Katzberg, Hans;
Karamchandani, Jason;
So, Yuen T.;
Vogel, Hannes;
Wang, Ching H.

Publication type:

Article

Screening of Late-Onset Pompe Disease in a Sample of Mexican Patients With Myopathies of Unknown Etiology: Identification of a Novel Mutation in the Acid α-Glucosidase Gene.

Published in:

2010

By:

Alcántara-Ortigoza, Miguel Angel;
González-del Angel, Ariadna;
Barrientos-Rios, Rehotbevely;
Cupples, Courtney;
Garrido-García, Luis Martín;
De León-Bojorge, Beatríz;
Alva-Chaire, Adriana del Carmen

Publication type:

Case Study

Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 4, p. 425, doi. 10.1177/0883073808324770

By:

Cunniff, Christopher;
Andrews, Jennifer;
Meaney, F. John;
Mathews, Katherine D.;
Matthews, Dennis;
Ciafaloni, Emma;
Miller, Timothy M.;
Bodensteiner, John B.;
Miller, Lisa A.;
James, Katherine A.;
Druschel, Charlotte M.;
Romitti, Paul A.;
Pandya, Shree

Publication type:

Article

Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 2, p. 155, doi. 10.1177/0883073807307975

By:

Young, Helen K.;
Barton, Belinda A.;
Waisbren, Susan;
Dale, Lourdes Portales;
Ryan, Monique M.;
Webster, Richard I.;
North, Kathryn N.

Publication type:

Article

Diagnostic Strategy for the Detection of Dystrophin Gene Mutations in Asian Patients and Carriers Using Immortalized Cell Lines.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 2, p. 150, doi. 10.1177/08830738060210021101

By:

Kiat Hong Tay, Stacey;
Hwee Hoon Khng;
Poh Sim Low;
Poh San Lai

Publication type:

Article

Prednisone Therapy in Becker's Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 11, p. 870, doi. 10.1177/08830738010160111406

By:

Johnsen, Stanley D.

Publication type:

Article

Becker Muscular Dystrophy Presenting As Eosinophilic Inflammatory Myopathy in an Infant.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 2, p. 146

By:

Weinstock, Arie;
Green, Carolyn;
Cohen, Bruce H.;
Prayson, Richard A.

Publication type:

Article

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Published in:

2017

By:

Mariko Okubo;
Kanako Goto;
Hirofumi Komaki;
Harumasa Nakamura;
Madoka Mori-Yoshimura;
Yukiko K. Hayashi;
Satomi Mitsuhashi;
Satoru Noguchi;
En Kimura;
Ichizo Nishino;
Okubo, Mariko;
Goto, Kanako;
Komaki, Hirofumi;
Nakamura, Harumasa;
Mori-Yoshimura, Madoka;
Hayashi, Yukiko K;
Mitsuhashi, Satomi;
Noguchi, Satoru;
Kimura, En;
Nishino, Ichizo

Publication type:

journal article

A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-014-0220-7

By:

Xihua Li;
Lei Zhao;
Shuizhen Zhou;
Chaoping Hu;
Yiyun Shi;
Wei Shi;
Hui Li;
Fang Liu;
Bingbing Wu;
Yi Wang

Publication type:

Article

A 29-YEAR-OLD MAN WITH DIFFICULTY CLIMBING THE STAIRS.

Published in:

2014

By:

Brady, Stefen;
Barresi, Rita;
Charlton, Richard;
Turner, Christopher;
Holton, Janice L.

Publication type:

Case Study

Single‐Nucleus RNA Sequencing Unravels Early Mechanisms of Human Becker Muscular Dystrophy.

Published in:

Annals of Neurology, 2024, v. 96, n. 6, p. 1070, doi. 10.1002/ana.27070

By:

Xie, Zhihao;
Liu, Chang;
Sun, Chengyue;
Liu, Yilin;
Peng, Jieru;
Meng, Lingchao;
Deng, Jianwen;
Wang, Zhaoxia;
Yang, Chunxia;
Yuan, Yun;
Xie, Zhiying

Publication type:

Article

50th Annual Meeting of the Child Neurology Society.

Published in:: 2021
Publication type:: journal article

Concerns Regarding Therapeutic Implications of Very Low‐Level Dystrophin.

Published in:

Annals of Neurology, 2021, v. 90, n. 1, p. 176, doi. 10.1002/ana.26097

By:

Hoffman, Eric P.;
Clemens, Paula R.

Publication type:

Article

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Published in:

Annals of Neurology, 2021, v. 89, n. 2, p. 280, doi. 10.1002/ana.25951

By:

Feraudy, Yvan;
Ben Yaou, Rabah;
Wahbi, Karim;
Stalens, Caroline;
Stantzou, Amalia;
Laugel, Vincent;
Desguerre, Isabelle;
Servais, Laurent;
Leturcq, France;
Amthor, Helge

Publication type:

Article

The expanding spectrum of dystrophinopathies: HyperCKemia to manifest female carriers.

Published in:

Journal of Pediatric Neurosciences, 2021, v. 16, n. 3, p. 206, doi. 10.4103/jpn.JPN_89_20

By:

Suthar, Renu;
Kesavan, Shivan;
Sharawat, Indar;
Malviya, Manisha;
Sirari, Titiksha;
Sihag, Bhupendra;
Saini, Arushi;
Jyothi, Vishalavath;
Sankhyan, Naveen

Publication type:

Article

Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 2, p. 182, doi. 10.4103/jpn.JPN_159_17

By:

Kumari, Preeti;
Joshi, Deepika;
Shamal, Satya N.;
Singh, Royana

Publication type:

Article

Carrier Detection of Duchenne Muscular Dystrophy by CPK Activity Testing and Conventional Needle EMG.

Published in:

Iraqi Journal of Medical Sciences, 2007, v. 5, n. 3, p. 31

By:

Alsheikhly, Abdul-Muttalib Abdul-Kareem;
Rabie, Salam Fouad;
AL-Hamadani, Hasan Azeez

Publication type:

Article

iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin.

Published in:

2020

By:

Nogami, Ken'ichiro;
Maruyama, Yusuke;
Elhussieny, Ahmed;
Sakai-Takemura, Fusako;
Tanihata, Jun;
Kira, Jun-ichi;
Miyagoe-Suzuki, Yuko;
Takeda, Shin'ichi

Publication type:

journal article

Risk of fracture in patients with muscular dystrophies.

Published in:

Osteoporosis International, 2014, v. 25, n. 2, p. 509, doi. 10.1007/s00198-013-2442-2

By:

Pouwels, S.;
Boer, A.;
Leufkens, H.;
Weber, W.;
Cooper, C.;
Onzenoort, H.;
Vries, F.

Publication type:

Article

Stable-Isotope Dilution GC–MS Measurement of Metformin in Human Serum and Urine after Derivatization with Pentafluoropropionic Anhydride and Its Application in Becker Muscular Dystrophy Patients Administered with Metformin, l-Citrulline, or Their Combination

Published in:

Molecules, 2022, v. 27, n. 12, p. 3850, doi. 10.3390/molecules27123850

By:

Baskal, Svetlana;
Bollenbach, Alexander;
Henzi, Bettina;
Hafner, Patricia;
Fischer, Dirk;
Tsikas, Dimitrios

Publication type:

Article

Non-Invasive Biomarkers for Duchenne Muscular Dystrophy and Carrier Detection.

Published in:

Molecules, 2015, v. 20, n. 6, p. 11154, doi. 10.3390/molecules200611154

By:

Anaya-Segura, Mónica Alejandra;
García-Martínez, Froylan Arturo;
Montes-Almanza, Luis Ángel;
Díaz, Benjamín-Gómez;
Ávila-Ramírez, Guillermina;
Alvarez-Maya, Ikuri;
Coral-Vázquez, Ramón Mauricio;
Mondragón-Terán, Paul;
Escobar-Cedillo, Rosa Elena;
García-Calderón, Noemí;
Vázquez-Cardenas, Norma Alejandra;
García, Silvia;
López-Hernández, Luz Berenice

Publication type:

Article

The Heart in Human Dystrophinopathies.

Published in:

Cardiology, 2003, v. 99, n. 1, p. 1, doi. 10.1159/000068446

By:

Finsterer, Josef;
Stöllberger, Claudia

Publication type:

Article

Isolated Left Ventricular Abnormal Trabeculation Is a Cardiac Manifestation of Neuromuscular Disorders.

Published in:

Cardiology, 2000, v. 94, n. 1, p. 72

By:

Stöllberger, Claudia;
Finsterer, Josef;
Blazek, Gerhard

Publication type:

Article

Progression of Cardiac Involvement in Patients with Myotonic Dystrophy, Becker’s Muscular Dystrophy and Mitochondrial Myopathy during a 2-Year Follow-Up.

Published in:

Cardiology, 1998, v. 90, n. 3, p. 173

By:

Stöllberger, Claudia;
Finsterer, Josef;
Keller, Hans;
Mamoli, Bruno;
Slany, Jörg

Publication type:

Article

CASE REPORT: EARLY-ONSET CARDIAC INVOLVEMENT IN BECKER MUSCULAR DYSTROPHY.

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 296

By:

Gurgu, Raul Andrei;
Sonia, Luka

Publication type:

Article

Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report.

Published in:

European Heart Journal Case Reports, 2019, v. 3, n. 3, p. N.PAG, doi. 10.1093/ehjcr/ytz117

By:

Dolader, Paola;
Field, Ella;
Sarkozy, Anna;
Kaski, Juan Pablo

Publication type:

Article

Physical quality of different industrial versus non-industrial eggs obtained from groceries and markets in southern Chile.

Published in:

Austral Journal of Veterinary Sciences, 2023, v. 55, n. 2, p. 87, doi. 10.4067/s0719-81322023000200087

By:

Gandarillas, Mónica;
Olmos, Valeria;
Piña, Bárbara;
Keim, Juan Pablo;
Vargas-Bello-Pérez, Einar

Publication type:

Article