Works matching DE "BECKER muscular dystrophy"

Results: 426

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

Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 4, p. 387, doi. 10.2298/VSP180226089M

By:

Maksić, Jasmina;
Dobričić, Valerija;
Rasulić, Lukas;
Maksimović, Nela;
Branković, Marija;
Rašić, Vedrana Milić;
Stojanović, Vidosava Rakočević;
Novaković, Ivana

Publication type:

Article

Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings.

Published in:

Pediatric Cardiology, 2025, v. 46, n. 3, p. 685, doi. 10.1007/s00246-024-03488-8

By:

Esmel-Vilomara, Roger;
Riaza, Lucía;
Costa-Comellas, Laura;
Sabaté-Rotés, Anna;
Gran, Ferran

Publication type:

Article

Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era.

Published in:

Pediatric Cardiology, 2025, v. 46, n. 2, p. 267, doi. 10.1007/s00246-023-03382-9

By:

Nigam, Priya;
Fitzgerald, Kristi K.;
Scavina, Mena;
Tsuda, Takeshi

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

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy(Communicated by Jean-Louis Mandel).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 608, doi. 10.1002/humu.10214

By:

Sylvie Tuffery-Giraud;
Céline Saquet;
Sylvie Chambert;
Mireille Claustres

Publication type:

Article

Determination of equilibria constants of arginine:glycine amidinotransferase (AGAT)-catalyzed reactions using concentrations of circulating amino acids.

Published in:

Amino Acids, 2023, v. 55, n. 2, p. 203, doi. 10.1007/s00726-022-03218-5

By:

Tsikas, Dimitrios

Publication type:

Article

Pharmacological activation of dimethylarginine dimethylaminohydrolase (DDAH) activity by inorganic nitrate and DDAH inhibition by NG-hydroxy-L-arginine, Nω,Nω-dimethyl-L-citrulline and Nω,Nω-dimethyl-Nδ-hydroxy-L-citrulline: results and overview

Published in:

Amino Acids, 2019, v. 51, n. 3, p. 483, doi. 10.1007/s00726-018-2684-6

By:

Bollenbach, Alexander;
Tsikas, Dimitrios

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

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

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2151, doi. 10.3390/jcm8122151

By:

Esposito, Gabriella;
Carsana, Antonella

Publication type:

Article

Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients.

Published in:

Journal of Neurogenetics, 2013, v. 27, n. 4, p. 170, doi. 10.3109/01677063.2013.830616

By:

Tran, Van Khanh;
Ta, Van Thanh;
Vu, Dung Chi;
Nguyen, Suong Thi-Bang;
Do, Hai Ngoc;
Ta, Minh Hieu;
Tran, Thinh Huy;
Matsuo, Masafumi

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

Epilepsy in Duchenne and Becker muscular dystrophies.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1456, doi. 10.1002/acn3.52058

By:

Armijo Gómez, Jesus Alfonso;
Fernandez‐Garcia, Miguel A.;
Camacho, Ana;
Liz, Marlin;
Ortez, Carlos;
Lafuente‐Hidalgo, Miguel;
Toledo Bravo‐de Laguna, Laura;
Estévez‐Arias, Berta;
Carrera‐García, Laura;
Expósito‐Escudero, Jessica;
Domínguez‐Carral, Jana;
Nascimento, Andres;
Natera‐de Benito, Daniel

Publication type:

Article

Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2360, doi. 10.1002/acn3.51925

By:

Nakamura, Akinori;
Matsumura, Tsuyoshi;
Ogata, Katsuhisa;
Mori‐Yoshimura, Madoka;
Takeshita, Eri;
Kimura, Koichi;
Kawashima, Takahiro;
Tomo, Yui;
Arahata, Hajime;
Miyazaki, Daigo;
Takeshima, Yasuhiro;
Takahashi, Toshiaki;
Ishigaki, Keiko;
Kuru, Satoshi;
Wakisaka, Akiko;
Awano, Hiroyuki;
Funato, Michinori;
Sato, Tatsuharu;
Saito, Yoshiaki;
Takada, Hiroto

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

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

Proteomic Identification of Markers of Membrane Repair, Regeneration and Fibrosis in the Aged and Dystrophic Diaphragm.

Published in:

Life (2075-1729), 2022, v. 12, n. 11, p. 1679, doi. 10.3390/life12111679

By:

Gargan, Stephen;
Dowling, Paul;
Zweyer, Margit;
Henry, Michael;
Meleady, Paula;
Swandulla, Dieter;
Ohlendieck, Kay

Publication type:

Article

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 5, p. 343, doi. 10.3969/j.issn.1672-6731.2019.05.008

By:

GAO Yun-qing;
OU Li-yu;
LI Ya-qin;
LI Jing;
LIN Jin-fu;
HE Ruo-jie;
LI Huan;
ZHU Yu-ling;
ZHANG Cheng

Publication type:

Article

Reliability of hand - held dynamometry for measurement of lower limb muscle strength in children with Duchenne and Becker muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 387, doi. 10.3969/j.issn.1672-6731.2015.05.009

By:

SHI Wei;
LI Hui;
SU Yi;
LU Kai;
HOU Fang-hua;
YANG Hong

Publication type:

Article

A comprehensive database of Duchenne and Becker muscular dystrophy patients in Children's Hospital of Fudan University.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 360, doi. 10.3969/j.issn.1672-6731.2015.05.005

By:

LI Xi-hua;
ZHAO Lei;
HU Chao-ping;
SHI Yi-yun;
ZHOU Shui-zhen;
WANG Yi

Publication type:

Article

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.

Published in:

Neuropathology & Applied Neurobiology, 2004, v. 30, n. 5, p. 540, doi. 10.1111/j.1365-2990.2004.00561.x

By:

Torelli, S.;
Brown, S. C.;
Jimenez-Mallebrera, C.;
Feng, L.;
Muntoni, F.;
Sewry, C. A.

Publication type:

Article

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

An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database.

Published in:

Genes, 2024, v. 15, n. 11, p. 1489, doi. 10.3390/genes15111489

By:

Leckie, Jamie;
Zia, Abdullah;
Yokota, Toshifumi

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

Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies.

Published in:

Genes, 2020, v. 11, n. 7, p. 765, doi. 10.3390/genes11070765

By:

Lim, Kenji Rowel Q.;
Sheri, Narin;
Nguyen, Quynh;
Yokota, Toshifumi

Publication type:

Article

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Published in:

Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253

By:

Gonçalves, Ana;
Oliveira, Jorge;
Coelho, Teresa;
Taipa, Ricardo;
Melo-Pires, Manuel;
Sousa, Mário;
Santos, Rosário

Publication type:

Article

Creation of a novel algorithm to identify patients with Becker and Duchenne muscular dystrophy within an administrative database and application of the algorithm to assess cardiovascular morbidity.

Published in:

2019

By:

Soslow, Jonathan H;
Hall, Matthew;
Burnette, W Bryan;
Hor, Kan;
Chisolm, Joanne;
Spurney, Christopher;
Godown, Justin;
Xu, Meng;
Slaughter, James C;
Markham, Larry W

Publication type:

journal article

First use of an intra-pericardial continuous flow ventricular assist device in a child with muscular dystrophy.

Published in:

2015

By:

Davies, Ryan R.;
Priest, Marc;
Pizarro, Christian

Publication type:

journal article

A Quantitative Study of Melanocytes in Becker's Nevus.

Published in:

Journal of Cutaneous Pathology, 1980, v. 7, n. 6, p. 404, doi. 10.1111/j.1600-0560.1980.tb01214.x

By:

Tate, Patricia Reed;
Hodge, Steven J.;
Owen, Lafayette G.

Publication type:

Article

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 12, p. 1254, doi. 10.1038/sj.ejhg.5201478

By:

Tuffery-Giraud, Sylvie;
Saquet, Céline;
Thorel, Delphine;
Disset, Antoine;
Rivier, François;
Malcolm, Sue;
Claustres, Mireille

Publication type:

Article

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 10, p. 793, doi. 10.1038/sj.ejhg.5200535

By:

Ginjaar, Ieke B;
Kneppers, Alexander LJ;
v d Meulen, Jan-Douwe M;
Anderson, Louise VB;
Bremmer-Bout, Mattie;
van Deutekom, Judith CT;
Weegenaar, Jitske;
den Dunnen, Johan T;
Bakker, Egbert

Publication type:

Article

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450

By:

Ligon, Azra H;
Kashork, Catherine D;
Richards, C Sue;
Shaffer, Lisa G

Publication type:

Article

Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1–Xp21.3 mental retardation.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 2, p. 87, doi. 10.1038/sj.ejhg.5200415

By:

Jin, Hong;
Gardner, Rebecca J;
Viswesvaraiah, Rajavarma;
Muntoni, Francesco;
Roberts, Roland G

Publication type:

Article

Screening for minor changes in the distal part of the human dystrophin gene in Greek DMD/BMD patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 179, doi. 10.1038/sj.ejhg.5200253

By:

Kekou, Kiriaki;
Mavrou, Ariadni;
Florentin, Lina;
Youroukos, Sotiris;
Zafiriou, Dimitrios I;
Skouteli, Helen N;
Metaxotou, Catherine

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

Muscle MRI in female carriers of dystrophinopathy.

Published in:

European Journal of Neurology, 2012, v. 19, n. 9, p. 1256, doi. 10.1111/j.1468-1331.2012.03753.x

By:

Tasca, G.;
Monforte, M.;
Iannaccone, E.;
Laschena, F.;
Ottaviani, P.;
Silvestri, G.;
Masciullo, M.;
Mirabella, M.;
Servidei, S.;
Ricci, E.

Publication type:

Article

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.

Published in:

PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0197205

By:

Mohammed, Fawziah;
Elshafey, Alaa;
Al-balool, Haya;
Alaboud, Hayat;
Al Ben Ali, Mohammed;
Baqer, Adel;
Bastaki, Laila

Publication type:

Article

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195850

By:

Beekman, Chantal;
Janson, Anneke A.;
Baghat, Aabed;
van Deutekom, Judith C.;
Datson, Nicole A.

Publication type:

Article

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Published in:

2024

By:

Shen, Fang;
Zhou, Hui

Publication type:

Case Study

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Published in:

2019

By:

König, Kirsten;
Pechmann, Astrid;
Thiele, Simone;
Walter, Maggie C.;
Schorling, David;
Tassoni, Adrian;
Lochmüller, Hanns;
Müller-Reible, Clemens;
Kirschner, Janbernd

Publication type:

journal 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

Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies.

Published in:

Archives of Pathology & Laboratory Medicine, 2019, v. 143, n. 2, p. 197, doi. 10.5858/arpa.2017-0536-OA

By:

Aeffner, Famke;
Faelan, Crystal;
Moore, Steven A.;
Moody, Alexander;
Black, Joshua C.;
Charleston, Jay S.;
Frank, Diane E.;
Dworzak, Johannes;
Piper, J. Kris;
Ranjitkar, Manish;
Wilson, Kristin;
Kanaly, Suzanne;
Rudmann, Daniel G.;
Lange, Holger;
Young, G. David;
J. Milici, Anthony

Publication type:

Article

The Unexplored Role of Connexin Hemichannels in Promoting Facioscapulohumeral Muscular Dystrophy Progression.

Published in:

2025

By:

Díaz-Ubilla, Macarena;
Retamal, Mauricio A.

Publication type:

Literature Review

PROGRAM SCHEDULE.

Published in:: European Journal of Translational Myology, 2020, v. 30, n. 3, p. 11, doi. 10.4081/ejtm.2020.9345
Publication type:: Article

Extensive functional evaluations to monitor aerobic training in Becker Muscular Dystrophy: A case report.

Published in:

2016

By:

Tramonti, Caterina;
Rossi, Bruno;
Chisari, Carmelo

Publication type:

Case Study

Carrier detection in Duchenne muscular dystrophy using molecular methods.

Published in:

Indian Journal of Medical Research, 2013, v. 137, n. 6, p. 1102

By:

Sakthivel, Murugan S. M.;
Arthi, C.;
Thilothammal, N.;
Lakshmi, B. R.

Publication type:

Article

Journal Club.

Published in:

Journal of Neurology, 2001, v. 248, n. 8, p. 727

By:

Strupp, Michael

Publication type:

Article

Rapid progression from hypertrophic cardiomyopathy to heart failure in a patient with Becker's muscular dystrophy

Published in:

European Journal of Heart Failure, 2005, v. 7, n. 4, p. 684, doi. 10.1016/j.ejheart.2004.07.019

By:

Park, Ok Young;
Ahn, Youngkeun;
Park, Woo Seok;
Lim, Ji Hyun;
Park, Hyung Wook;
Kim, Ju Han;
Hong, Young Joon;
Kim, Weon;
Jeong, Myung Ho;
Cho, Jeong Gwan;
Park, Jong Chun;
Lee, Min Cheol;
Kang, Jung Chaee

Publication type:

Article