Works matching DE "MUSCULAR dystrophy diagnosis"

Results: 119

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis.

Published in:

Health Expectations, 2025, v. 28, n. 3, p. 1, doi. 10.1111/hex.70271

By:

Osman, Homira;
Adamji, Zainab;
Pfeffer, Gerald;
Warman‐Chardon, Jodi;
Varma, Pryamvada;
Keindel, Jenna;
Lintern, Stacey

Publication type:

Article

An Aquatic Exercise Program for an Adolescent With Limb Girdle Muscular Dystrophy.

Published in:

Journal of Aquatic Physical Therapy, 2015, v. 23, n. 1, p. 3

By:

DiBiasio, Paula;
Boone Primus, Kadee;
Drogos, Justin;
Husted, Carty;
Stephens, Holly;
Thorpe, Deborah

Publication type:

Article

A case series of general anesthesia in children with laminin alpha2 (merosin)-deficient congenital muscular dystrophy.

Published in:

Pediatric Anesthesia, 2014, v. 24, n. 4, p. 464, doi. 10.1111/pan.12378

By:

Scrivener, Timothy A.;
Ross, Stuart M.;
Street, Neil E.;
Webster, Richard I.;
De Lima, Jonathan C.

Publication type:

Article

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Published in:

2018

By:

Tordjman, Mickael;
Dabaj, Ivana;
Laforet, Pascal;
Felter, Adrien;
Ferreiro, Ana;
Biyoukar, Moustafa;
Law-Ye, Bruno;
Zanoteli, Edmar;
Castiglioni, Claudia;
Rendu, John;
Beroud, Christophe;
Chamouni, Alexandre;
Richard, Pascale;
Mompoint, Dominique;
Quijano-Roy, Susana;
Carlier, Robert-Yves

Publication type:

journal article

Monitoring skeletal muscle chronic fatty degenerations with fast T1-mapping.

Published in:

2018

By:

Marty, Benjamin;
Coppa, Bertrand;
Carlier, Pierre G.

Publication type:

journal article

Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child.

Published in:

Journal of Pediatric Research, 2018, v. 5, n. 1, p. 57, doi. 10.4274/jpr.26056

By:

Kamal, Naglaa M.;
Alghamdi, Hamed A.;
Halabi, Abdulrahman;
Alharbi, Abdullah O.;
Rafique, Muhammad;
Abidi, Kamel;
El-Shabrawi, Mortada H. H.;
Eskander, Ayman E.;
Mansour, Hala;
Sherief, Laila M.

Publication type:

Article

Muscular dystrophies: key elements for everyday diagnosis and management.

Published in:

Cardiogenetics, 2013, v. 3, n. 1, p. 49, doi. 10.4081/cardiogenetics.2013.e9

By:

Palladino, Alberto;
Nigro, Gerardo;
Politano, Luisa

Publication type:

Article

Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.

Published in:

Rheumatology, 2022, v. 61, n. 4, p. 1645, doi. 10.1093/rheumatology/keab553

By:

Marago, Italo;
Roberts, Mark;
Roncaroli, Federico;
DuPlessis, Daniel;
Sewry, Caroline;
Nagaraju, Santhosh;
Limbada, Faheema;
Marini-Bettolo, Chiara;
Hudson, Judith;
Banerjee, Siwalik;
Newton, Laura;
Bukhari, Marwan;
Chinoy, Hector;
Lilleker, James B

Publication type:

Article

Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey.

Published in:

Disability & Rehabilitation, 2017, v. 39, n. 3, p. 236, doi. 10.3109/09638288.2016.1140834

By:

Bergsma, Arjen;
Cup, Edith H. C.;
Janssen, Mariska M. H. P.;
Geurts, Alexander C. H.;
de Groot, Imelda J. M.

Publication type:

Article

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2020, v. 58, n. 2, p. 208, doi. 10.4274/haseki.galenos.2019.5177

By:

Ayça, Senem;
Çelebi, Hamide Betül Gerik;
Çam, Sırrı;
Polat, Muzaffer

Publication type:

Article

A Rare Cause of Winged Scapula in Two Male Adolescents: Dorsal Scapular Nerve Neuropathy.

Published in:

Journal of Physical Medicine & Rehabilitation Sciences, 2024, v. 27, n. 1, p. 83, doi. 10.31609/jpmrs.2023-98613

By:

KIRAÇ ÜNAL, Zeynep;
SEZER, Methiye Kübra;
ŞENER DOĞRUEL, Zeynep;
AKYÜZ, Ece ÜNLÜ

Publication type:

Article

Creatine-Kinase- and Exercise-Related Muscle Damage Implications for Muscle Performance and Recovery.

Published in:

Journal of Nutrition & Metabolism, 2012, p. 1, doi. 10.1155/2012/960363

By:

Baird, Marianne F.;
Graham, Scott M.;
Baker, Julien S.;
Bickerstaff, Gordon F.

Publication type:

Article

Evaluation of an adaptive virtual laboratory environment using Western Blotting for diagnosis of disease.

Published in:

BMC Medical Education, 2014, v. 14, p. 1, doi. 10.1186/1472-6920-14-222

By:

Polly, Patsie;
Marcus, Nadine;
Maguire, Danni;
Belinson, Zack;
Velan, Gary M.

Publication type:

Article

Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.

Published in:

BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02539-0

By:

McGarrigle, Conor;
McGrath, Launcelot;
Khan, Ehtesham

Publication type:

Article

The Muscular Dystrophies Associated with Central Nervous System Lesions: A Brief Review from a Standpoint of the Localization and Function of Causative Genes.

Published in:

Current Pediatric Reviews, 2014, v. 10, n. 4, p. 282

By:

Tomoko Yamamoto;
Atsuko Hiroi;
Makiko Osawa;
Noriyuki Shibata

Publication type:

Article

Nuclear lamina remodelling and its implications for human disease.

Published in:

Cell & Tissue Research, 2015, v. 360, n. 3, p. 621, doi. 10.1007/s00441-014-2069-4

By:

Chojnowski, Alexandre;
Ong, Peh;
Dreesen, Oliver

Publication type:

Article

Gene analysis and clinical features of 22 GNE myopathy patients.

Published in:

2022

By:

Guo, Xuan;
Zhao, Zhe;
Shen, Hongrui;
Bing, Qi;
Li, Nan;
Chen, Jiannan;
Hu, Jing

Publication type:

journal article

THE NATIONAL POSTURE AND MOBILITY GROUP, WARWICK UNIVERSITY, 11-12 APRIL 1994.

Published in:

British Journal of Occupational Therapy, 1994, v. 57, n. 5, p. 198

By:

Aldersea, Patsy

Publication type:

Article

Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.

Published in:

2011

By:

Tsuburaya, Rie;
Suzuki, Takateru;
Saiki, Ken;
Nonaka, Ikuya;
Sugita, Hideo;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Other

Miscellanea.

Published in:: Clinical Chemistry & Laboratory Medicine, 2008, v. 46, p. S345, doi. 10.1515/CCLM.2008.410
Publication type:: Article

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 199, doi. 10.1111/cge.12801

By:

Massalska, D.;
Zimowski, J.G.;
Bijok, J.;
Kucińska‐Chahwan, A.;
Łusakowska, A.;
Jakiel, G.;
Roszkowski, T.

Publication type:

Article

Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.

Published in:

Clinical Genetics, 2012, v. 82, n. 3, p. 219, doi. 10.1111/j.1399-0004.2012.01913.x

By:

Hawkins, AK

Publication type:

Article

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 110, doi. 10.1038/ejhg.2013.82

By:

Wei, Xiaoming;
Dai, Yi;
Yu, Ping;
Qu, Ning;
Lan, Zhangzhang;
Hong, Xiafei;
Sun, Yan;
Yang, Guanghui;
Xie, Shuqi;
Shi, Quan;
Zhou, Hanlin;
Zhu, Qian;
Chu, Yuxing;
Yao, Fengxia;
Wang, Jinming;
He, Jingni;
Yang, Yun;
Liang, Yu;
Yang, Yi;
Qi, Ming

Publication type:

Article

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 999, doi. 10.1038/ejhg.2012.42

By:

Leidenroth, Andreas;
Sorte, Hanne Sørmo;
Gilfillan, Gregor;
Ehrlich, Melanie;
Lyle, Robert;
Hewitt, Jane E

Publication type:

Article

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 64, doi. 10.1038/ejhg.2010.143

By:

Zhi-Qiang Wang;
Ning Wang;
van der Maarel, Silvere;
Shen-Xing Murong;
Zhi-Ying Wu

Publication type:

Article

Impact of secondary health conditions on social role participation for a long-term physical disability cohort.

Published in:

Psychology, Health & Medicine, 2019, v. 24, n. 10, p. 1159, doi. 10.1080/13548506.2019.1595684

By:

Hreha, Kimberly P.;
Smith, Amanda E.;
Wong, Jennifer L.;
Mroz, Tracy M.;
Fogelberg, Donald J.;
Molton, Ivan

Publication type:

Article

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.

Published in:

2017

By:

Ho, Mai-Lan;
Glenn, Orit;
Sherr, Eliott;
Strober, Jonathan;
Glenn, Orit A;
Sherr, Eliott H;
Strober, Jonathan B

Publication type:

journal article

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/3710814

By:

Xie, Zhiying;
Xiao, Jiangxi;
Zheng, Yiming;
Wang, Zhaoxia;
Yuan, Yun

Publication type:

Article

Limb - girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 9, p. 832, doi. 10.3969/j.issn.1672-6731.2023.09.010

By:

LI Ran;
ZOU Hui-min;
XING Chun-ye;
SONG Jin;
HAO Yan-lei

Publication type:

Article

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 506

By:

LI Huan;
ZHU Yu-ling;
LI Jing;
WANG Liang;
HE Ruo-jie;
LIN Jin-fu;
ZHANG Cheng

Publication type:

Article

Interpretation of "Chinese guidelines for diagnosis and treatment of pseudohypertrophy muscular dystrophy".

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 475

By:

ZHANG Cheng

Publication type:

Article

An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.

Published in:

2014

By:

HyeWon Kwon;
Bo Sang Kwon;
Eun Jung Bae;
Jong Hee Chae

Publication type:

Case Study

Myocardial fibrosis imaging based on T1-mapping and extracellular volume fraction (ECV) measurement in muscular dystrophy patients: diagnostic value compared with conventional late gadolinium enhancement (LGE) imaging.

Published in:

European Heart Journal - Cardiovascular Imaging, 2014, p. 1004, doi. 10.1093/ehjci/jeu050

By:

Florian, Anca;
Ludwig, Anna;
Rösch, Sabine;
Yildiz, Handan;
Sechtem, Udo;
Yilmaz, Ali

Publication type:

Article

Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.

Published in:

PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170517

By:

Liang, Wen-Chen;
Tian, Xia;
Yuo, Chung-Yee;
Chen, Wan-Zi;
Kan, Tsu-Min;
Su, Yi-Ning;
Nishino, Ichizo;
Wong, Lee-Jun C.;
Jong, Yuh-Jyh

Publication type:

Article

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170280

By:

Pantoja-Melendez, Carlos A.;
Miranda-Duarte, Antonio;
Roque-Ramirez, Bladimir;
Zenteno, Juan C.

Publication type:

Article

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Published in:

2016

By:

Inashkina, Inna;
Jankevics, Eriks;
Stavusis, Janis;
Vasiljeva, Inta;
Viksne, Kristine;
Micule, Ieva;
Strautmanis, Jurgis;
Naudina, Maruta S.;
Cimbalistiene, Loreta;
Kucinskas, Vaidutis;
Krumina, Astrida;
Utkus, Algirdas;
Burnyte, Birute;
Matuleviciene, Ausra;
Lace, Baiba

Publication type:

journal article

Diagnosis of muscle diseases presenting with early respiratory failure.

Published in:

Journal of Neurology, 2015, v. 262, n. 5, p. 1101, doi. 10.1007/s00415-014-7526-1

By:

Pfeffer, Gerald;
Povitz, Marcus;
Gibson, G.;
Chinnery, Patrick

Publication type:

Article

Relative elevations of serum alanine and aspartate aminotransferase in muscular dystrophy.

Published in:

2005

By:

Kohli, Rohit;
Harris, David C;
Whitington, Peter F

Publication type:

journal article

Linker proteins restore basement membrane and correct LAMA2-related muscular dystrophy in mice.

Published in:

Science Translational Medicine, 2017, v. 9, n. 396, p. 1, doi. 10.1126/scitranslmed.aal4649

By:

Reinhard, Judith R.;
Shuo Lin;
McKee, Karen K.;
Meinen, Sarina;
Crosson, Stephanie C.;
Sury, Maurizio;
Hobbs, Samantha;
Maier, Geraldine;
Yurchenco, Peter D.;
Rüegg, Markus A.

Publication type:

Article

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.

Published in:

1992

By:

Chamberlain, J S;
Chamberlain, J R;
Fenwick, R G;
Ward, P A;
Caskey, C T;
Dimnik, L S;
Bech-Hansen, N T;
Hoar, D I;
Richards, S;
Covone, A E;
Govanni, R;
Abbs, S;
Bentley, D R;
Bobrow, M;
Rysiecki, G;
Ray, P N;
Boileau, C;
Junien, C;
Boehm, C;
Venne, V L

Publication type:

journal article

Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging.

Published in:

2015

By:

Li Zhang;
Zhe Liu;
Ke-You Hu;
Qing-Bao Tian;
Ling-Ge Wei;
Zhe Zhao;
Hong-Rui Shen;
Jing Hu;
Zhang, Li;
Liu, Zhe;
Hu, Ke-You;
Tian, Qing-Bao;
Wei, Ling-Ge;
Zhao, Zhe;
Shen, Hong-Rui;
Hu, Jing

Publication type:

journal article

Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.

Published in:

BMC Research Notes, 2017, v. 10, p. 1, doi. 10.1186/s13104-016-2363-1

By:

Ekabe, Cyril Jabea;
Kehbila, Jules;
Sama, Carlson-Babila;
Kadia, Benjamin Momo;
Abanda, Martin Hongieh;
Monekosso, Gottlieb Lobe

Publication type:

Article

Immunohistochemistry of sarcolemmal membrane-associated proteins in formalinfixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.

Published in:

Diagnostic Pathology, 2017, v. 12, p. 1, doi. 10.1186/s13000-017-0610-y

By:

Suriyonplengsaeng, Chinnawut;
Dejthevaporn, Charungthai;
Khongkhatithum, Chaiyos;
Sanpapant, Suda;
Tubthong, Nattha;
Pinpradap, Koset;
Srinark, Nippa;
Waisayarat, Jariya

Publication type:

Article

X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.

Published in:

1997

By:

Mora, M.;
Cartegni, L.;
Di Blasi, C.;
Barresi, R.;
Bione, S.;
di Barletta, M. Raffaele;
Morandi, L.;
Merlini, L.;
Nigro, V.;
Politano, L.;
Donati, M. A.;
Cornelio, F.;
Cobianchi, F.;
Toniolo, D.;
Raffaele di Barletta, M

Publication type:

journal article

Clinical and Genetic Characterizations to Diagnose Sarcoglycanopathies.

Published in:

Neurology Alert, 2021, v. 40, n. 6, p. 1

By:

AHC MEDIA

Publication type:

Article

Correlation of Electromyography With Pathology in Myopathy.

Published in:

Neurology Alert, 2019, v. 38, n. 5, p. 0

By:

AHC MEDIA

Publication type:

Article

Morphologic imaging in muscular dystrophies and inflammatory myopathies.

Published in:

2010

By:

Degardin, Adrian;
Morillon, David;
Lacour, Arnaud;
Cotten, Anne;
Vermersch, Patrick;
Stojkovic, Tanya

Publication type:

journal article

Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy.

Published in:

2010

By:

Drakonaki, Eleni E.;
Allen, Gina M.

Publication type:

journal article

Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family.

Published in:

Journal of Pediatrics Review, 2020, v. 8, n. 1, p. 35, doi. 10.32598/jpr.8.1.35

By:

Ghazanfari-Sarabi, Shabnam;
Rayati, Mostafa;
Hashemi-Soteh, Mohammad Bagher

Publication type:

Article

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735

By:

Yis, Uluç;
Baydan, Figen;
Karakaya, Mert;
Hız Kurul, Semra;
Cirak, Sebahattin

Publication type:

Article