Works matching DE "MUSCULAR dystrophy diagnosis"

Results: 116

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 68, doi. 10.14744/TurkPediatriArs.2020.37880

By:

Yıldırım, Miraç;
Eker, Hatice Koçak;
Doğan, Melih Timuçin

Publication type:

Article

A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2023, v. 29, n. 1, p. 79, doi. 10.4274/tnd.2022.44788

By:

Yılmaz Çakan, Gülce Coşku;
Bölük, Ebru;
Seçil, Yaprak;
Subaşıoğlu, Aslı;
Tosun, Özgür

Publication type:

Article

İki Olgu Nedeniyle Disferlinopati.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2011, v. 17, n. 1, p. 45

By:

Eryaşar, Gaye;
Seçil, Yaprak;
Beckmann, Yeşim;
Kendir, Ayşen İnceoğlu;
Diniz, A. Gülden;
Başoğlu, Mustafa

Publication type:

Article

Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.

Published in:

2021

By:

Jacobs, Marni B.;
James, Meredoith K.;
Lowes, Linda P.;
Alfano, Lindsay N.;
Eagle, Michelle;
Muni Lofra, Robert;
Moore, Ursula;
Feng, Jia;
Rufibach, Laura E.;
Rose, Kristy;
Duong, Tina;
Bello, Luca;
Pedrosa‐Hernández, Irene;
Holsten, Scott;
Sakamoto, Chikako;
Canal, Aurélie;
Sanchez‐Aguilera Práxedes, Nieves;
Thiele, Simone;
Siener, Catherine;
Vandevelde, Bruno

Publication type:

journal article

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.

Published in:

2019

By:

Savarese, Marco;
Vihola, Anna;
Jonson, Per Harald;
Sarparanta, Jaakko;
Hackman, Peter;
Udd, Bjarne;
Palmio, Johanna;
Poza, Juan José;
García‐Bragado, Federico;
Weinberg, Jan;
Olive, Montse;
Cobo, Ana Maria;
Urtizberea, Jon Andoni;
García-Bragado, Federico

Publication type:

journal article

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Published in:

2016

By:

O'Grady, Gina L.;
Lek, Monkol;
Lamande, Shireen R.;
Waddell, Leigh;
Oates, Emily C.;
Punetha, Jaya;
Ghaoui, Roula;
Sandaradura, Sarah A.;
Best, Heather;
Kaur, Simranpreet;
Davis, Mark;
Laing, Nigel G.;
Muntoni, Francesco;
Hoffman, Eric;
MacArthur, Daniel G.;
Clarke, Nigel F.;
Cooper, Sandra;
North, Kathryn

Publication type:

journal article

Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene.

Published in:

Journal of Pediatric Neurosciences, 2018, v. 13, n. 4, p. 462, doi. 10.4103/JPN.JPN_36_18

By:

Isikay, Sedat;
Şirikçi, Akif

Publication type:

Article

Moderately progressive Ullrich congenital muscular dystrophy.

Published in:

Jornal de Pediatria, 2012, v. 88, n. 1, p. 93, doi. 10.2223/JPED.2112

By:

Carakushansky, Gerson;
Ribeiro, Marcia Gonçalves;
Kahn, Evelyn

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

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

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4

By:

Wen-Chen Liang;
Wenhua Zhu;
Satomi Mitsuhashi;
Satoru Noguchi;
Sacher, Michael;
Megumu Ogawa;
Hsiang-Hung Shih;
Yuh-Jyh Jong;
Ichizo Nishino

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

Miscellanea.

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

Myocardial T<sub>1</sub>-mapping and Extracellular Volume Quantification in Patients and Putative Carriers of Muscular Dystrophy: Early Experience.

Published in:

Magnetic Resonance in Medical Sciences, 2021, v. 20, n. 3, p. 320, doi. 10.2463/mrms.bc.2020-0069

By:

Kazuhiro Koyanagawa;
Yuta Kobayashi;
Tadao Aikawa;
Atsuhito Takeda;
Hideaki Shiraishi;
Satonori Tsuneta;
Noriko Oyama-Manabe;
Hiroyuki Iwano;
Toshiyuki Nagai;
Toshihisa Anzai

Publication type:

Article

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5

By:

Yanoov-Sharav, Miri;
Leshinsky-Silver, Esther;
Cohen, Sarit;
Vinkler, Chana;
Michelson, Marina;
Lerman-Sagie, Tally;
Ginzberg, Mira;
Sadeh, Menahem;
Lev, Dorit

Publication type:

Article

Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging.

Published in:

Acta Radiologica, 2023, v. 64, n. 2, p. 605, doi. 10.1177/02841851221077402

By:

Goebel, Juliane;
Schult, Karolin;
Schara, Ulrike;
Neudorf, Ulrich;
Forsting, Michael;
Schlosser, Thomas;
Nassenstein, Kai

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

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

Muscular dystrophies: An Indian scenario.

Published in:

2017

By:

Nalini, Atchayaram;
Polavarapu, Kiran;
Preethish-Kumar, Veeramani

Publication type:

journal article

Muscular dystrophy: The long road ahead.

Published in:

2017

By:

Khadilkar, Satish V.

Publication type:

journal article

Atypical initial manifestation of facioscapulohumeral muscular dystrophy mimicking neuralgic amyotrophy.

Published in:

2016

By:

Kee Hong Park;
Dong-Wan Kang;
Kwang-Woo Lee;
Jung-Joon Sung;
Park, Kee Hong;
Kang, Dong-Wan;
Lee, Kwang-Woo;
Sung, Jung-Joon

Publication type:

journal article

Limb girdle muscular dystrophies in India.

Published in:

2015

By:

Khadilkar, Satish V.

Publication type:

Editorial

An extra hill in a poly-hill sign in a patient with facioscapulohumeral dystrophy.

Published in:

2007

By:

Pradhan, Sunil

Publication type:

journal article

Invited commentary. Sarcoglycanopathies: a clinico-pathological study.

Published in:

2007

By:

Quinlivan, R M

Publication type:

journal 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

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

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

Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy.

Published in:

1996

By:

Meola, Giovanni;
Sansone, Valeria;
Rotondo, Giuseppe;
Jabbour, Antoine;
Meola, G;
Sansone, V;
Rotondo, G;
Jabbour, A

Publication type:

journal article

STUDY OF THE CARDIORESPIRATORY FUNCTION IN PATIENTS WITH PROGRESSIVE MUSCULAR DYSTROPHY.

Published in:

Angiology, 1964, v. 15, n. 9, p. 407, doi. 10.1177/000331976401500904

By:

Arce-Gomez, E.;
Palma-Garcia, S.;
Yanez, J. L.;
Lopez-Portillo, M.;
Lombardo, L.;
Brandt, H.;
Marquez, M. H.

Publication type:

Article

Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.

Published in:

1996

By:

Salih, MAM;
Maluli, A H;
Rikabi, ACAl;
Al-Bunycin, M.;
Roberds, S L;
Anderson, R D;
Campbell, K P;
Salih, M A;
Mahdi, A H;
al-Rikabi, A C;
al-Bunyan, 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

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

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

Needle muscle biopsy and its application.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 432, doi. 10.3969/j.issn.1672-6731.2015.06.003

By:

CHEN Meng-long;
ZHANG Cheng

Publication type:

Article

Research highlights of partial neuromuscular disorders.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 382, doi. 10.3969/j.issn.1672.6731.2014.05.004

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

Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?

Published in:

2017

By:

Vissing, John;
Duno, Morten

Publication type:

Letter

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3237, doi. 10.1093/brain/awm259

By:

Emma J. Groen;
Richard Charlton;
Rita Barresi;
Louise V. Anderson;
Michelle Eagle;
Judith Hudson;
Mauro Santibanez Koref;
Volker Straub;
Katharine M. D. Bushby

Publication type:

Article

PlGF–MMP-9–expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle.

Published in:

Nature Medicine, 2008, v. 14, n. 9, p. 973, doi. 10.1038/nm.1852

By:

Gargioli, Cesare;
Colleta, Marcello;
De Grandis, Fabrizio;
Cannata, Stefano M.;
Cossu, Giulio

Publication type:

Article

The Boy Who Lost His Smile: Facioscapulohumeral Dystrophy in the Head and Neck.

Published in:

2015

By:

Kopelovich, Jonathan C.;
Owen, Scott;
Mathews, Katherine D.;
Henstrom, Douglas K.

Publication type:

Case Study

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

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

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

Dystrophic Calcifications Secondary to Mastopexy With Subcutaneous Mesh.

Published in:

Journal of Breast Imaging, 2023, v. 5, n. 4, p. 600, doi. 10.1093/jbi/wbad025

By:

Bitencourt, Almir G. V.;
Finguerman, Flora

Publication type:

Article