Works matching DE "DIAGNOSIS of Duchenne muscular dystrophy"

Results: 117

Evaluation of Single Exon Deletions in DMD/BMD: Technical and Analytical Concerns.

Published in:

Neurology India, 2022, v. 70, n. 4, p. 1615, doi. 10.4103/0028-3886.355142

By:

Dama, Tavisha;
Chheda, Pratiksha;
Limaye, Shweta;
Pande, Shailesh;
Vinarkar, Sushant

Publication type:

Article

Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.

Published in:

2018

By:

Singh, Ravinder-Jeet;
Manjunath, Mahadevappa;
Preethish-Kumar, Veeramani;
Polavarapu, Kiran;
Vengalil, Seena;
Thomas, Priya T.;
Thennarasu, Kandavel;
Gayathri, Narayanappa;
Sekar, Deepha;
Nashi, Saraswati;
Nalini, Atchayaram

Publication type:

journal article

Reduced bone mineral density in adolescents with Duchenne Muscular Dystrophy (DMD) and scoliosis.

Published in:

Osteoporosis International, 2022, v. 33, n. 9, p. 2011, doi. 10.1007/s00198-022-06416-9

By:

Tsaknakis, K.;
Jäckle, K.;
Lüders, K. A.;
Lorenz, H. M.;
Braunschweig, L.;
Hell, A. K.

Publication type:

Article

Problems of prenatal testing.

Published in:

Nature, 1985, p. 211, doi. 10.1038/314211a0

By:

Beardsley, Tim

Publication type:

Article

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 32, doi. 10.3390/ijns10020032

By:

Bhattacharyya, Oindrila;
Campoamor, Nicola B.;
Armstrong, Niki;
Freed, Megan;
Schrader, Rachel;
Crossnohere, Norah L.;
Bridges, John F. P.

Publication type:

Article

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 50, doi. 10.3390/ijns8040050

By:

Hartnett, Michael J.;
Lloyd-Puryear, Michele A.;
Tavakoli, Norma P.;
Wynn, Julia;
Koval-Burt, Carrie L.;
Gruber, Dorota;
Trotter, Tracy;
Caggana, Michele;
Chung, Wendy K.;
Armstrong, Niki;
Brower, Amy M.

Publication type:

Article

Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 23, doi. 10.3390/ijns8020023

By:

Wynn, Julia;
Tavakoli, Norma P.;
Armstrong, Niki;
Gomez, Jacqueline;
Koval, Carrie;
Lai, Christina;
Tang, Stephanie;
Quevedo Prince, Andrea;
Quevedo, Yeyson;
Rufino, Katrina;
Palacio Morales, Laura;
Pena, Angela;
Grossman, Sharon;
Monfiletto, Mary;
Ruda, Erika;
Jimenez, Vania;
Verdade, Lorraine;
Jones, Ashley;
Barriga, Michelle G.;
Karan, Nandanee

Publication type:

Article

The Editor's Choice for Issue 4, Volume 7.

Published in:

2022

By:

Millington, David S.

Publication type:

Editorial

Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 12, doi. 10.3390/ijns8010012

By:

Migliore, Brooke A.;
Zhou, Linran;
Duparc, Martin;
Robles, Veronica R.;
Rehder, Catherine W.;
Peay, Holly L.;
Kucera, Katerina S.

Publication type:

Article

Cognitive and Behavioral Profile of Egyptian Children with Duchenne Muscular Dystrophy.

Published in:

Alexandria Journal of Pediatrics, 2023, v. 36, n. 1, p. 51, doi. 10.4103/ajop.ajop_12_23

By:

Khalil, Mona;
Morsy, Nourhan Mohamed;
Elmaksoud, Marwa Abd

Publication type:

Article

Expression of dystrophin-glycoprotein complex at the skeletal muscle sarcolemma in Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 448, doi. 10.3969/j.issn.1672-6731.2015.06.006

By:

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

Publication type:

Article

Clinical study of DMD gene point mutation causing Becker muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 442, doi. 10.3969/j.issn.1672-6731.2015.06.005

By:

CAO Ji-qing;
YANG Juan;
LI Ya-qin;
FENG Shan-wei;
CHEN Fei;
ZHENG Hui;
LIANG Ying-yin;
ZHAO Bao-jian;
ZHANG Xu;
ZHANG Hui-li;
ZHU Yu-ling;
ZHANG Cheng

Publication type:

Article

Study on preimplantation genetic diagnosis and follow - up for Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 458, doi. 10.3969/j.issn.1672-6731.2015.06.008

By:

YANG Juan;
XIE Hui-fang;
CAO Ji-qing;
ZHENG Hui;
ZHOU Can-quan;
LIU Zhen-hua;
ZHU Yu-ling;
ZHAN Yi-xin;
SHEN Xiao-ting;
LI Ya-qin;
ZHANG Cheng

Publication type:

Article

Correlation analysis between cardiac damage and genotype in Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 453, doi. 10.3969/j.issn.1672-6731.2015.06.007

By:

ZHANG Yao;
ZHANG Cheng;
TANG Ying;
YAO Feng-juan;
SUN Yi-ming;
WANG You-ming;
WANG Jing;
WANG Yin-long;
YUAN Chang-ming

Publication type:

Article

Study on T2 mapping in thigh muscles of patients with Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 437, doi. 10.3969/j.issn.1672-6731.2015.06.004

By:

LIANG Ying-yin;
CAO Ji-qing;
LING Jian;
LIN Er-jian;
LI Ming;
ZHANG Cheng

Publication type:

Article

Research progress of motor function assessments and their clinical applications in Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 426, doi. 10.3969/j.issn.1672-6731.2015.06.002

By:

SHI Wei

Publication type:

Article

Strengthen the research of Duchenne muscular dystrophy in China.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 423, doi. 10.3969/j.issn.1672-6731.2015.06.001

By:

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

Clinical analysis of 155 patients with Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 380, doi. 10.3969/j.issn.1672-6731.2015.05.008

By:

BING Qi;
HU Jing;
ZHAO Zhe;
SHEN Hong-rui;
LI Na

Publication type:

Article

A study of diffusion tensor imaging in Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 369, doi. 10.3969/j.issn.1672-6731.2015.05.006

By:

FU Ya;
WU Shi-wen

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

Interpretation of "Diagnosis and management of Duchenne muscular dystrophy: a guide for families (2011 version)".

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 350, doi. 10.3969/j.issn.1672-6731.2015.05.003

By:

LI Xi-hua

Publication type:

Article

Yesterday, today and tomorrow of Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 5, p. 343, doi. 10.3969/j.issn.1672-6731.2015.05.002

By:

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

How do physical capacity, fatigue and performance differ in children with duchenne muscular dystrophy compared with their healthy peers?

Published in:

Neurosciences, 2018, v. 23, n. 1, p. 39, doi. 10.17712/nsj.2018.1.20170242

By:

Mutlu, Akmer;
Alkan, Halil;
Fırat, Tüzün;
Karaduman, Aynur A.;
Yılmaz, Öznur T.

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

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

Accelerometric outcomes of motor function related to clinical evaluations and muscle involvement in dystrophic dogs.

Published in:

PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208415

By:

Kuraoka, Mutsuki;
Nitahara-Kasahara, Yuko;
Tachimori, Hisateru;
Kato, Naohiro;
Shibasaki, Hiroyuki;
Shin, Akihiko;
Aoki, Yoshitsugu;
Kimura, En;
Takeda, Shin’ichi

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

Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194636

By:

Kogelman, Bauke;
Khmelinskii, Artem;
Verhaart, Ingrid;
Vliet, Laura Van;
Bink, Diewertje I.;
Aartsma-Rus, Annemieke;
Putten, Maaike Van;
Weerd, Louise Van Der

Publication type:

Article

Combined use of protein biomarkers and network analysis unveils deregulated regulatory circuits in Duchenne muscular dystrophy.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194225

By:

Parolo, Silvia;
Marchetti, Luca;
Lauria, Mario;
Misselbeck, Karla;
Scott-Boyer, Marie-Pier;
Caberlotto, Laura;
Priami, Corrado

Publication type:

Article

CARDIAC COMPLICATIONS IN DUCHENNE MUSCULAR DYSTROPHY IN CHILDREN.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 4, p. 378, doi. 10.37897/rjp.2015.4.4

By:

Grigore, Ioana;
Frasin, Mariana;
Diaconu, Georgeta

Publication type:

Article

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

Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress.

Published in:

Cells (2073-4409), 2019, v. 8, n. 1, p. 53, doi. 10.3390/cells8010053

By:

Jelinkova, Sarka;
Fojtik, Petr;
Kohutova, Aneta;
Vilotic, Aleksandra;
Marková, Lenka;
Pesl, Martin;
Jurakova, Tereza;
Kruta, Miriama;
Vrbsky, Jan;
Gaillyova, Renata;
Valášková, Iveta;
Frák, Ivan;
Lacampagne, Alain;
Forte, Giancarlo;
Dvorak, Petr;
Meli, Albano C.;
Rotrekl, Vladimir

Publication type:

Article

Analysis of Pulmonary Function Test in Korean Patients With Duchenne Muscular Dystrophy: Comparison of Foreign and Korean Reference Data.

Published in:

Annals of Rehabilitation Medicine, 2016, v. 40, n. 5, p. 851, doi. 10.5535/arm.2016.40.5.851

By:

Tae Sik Bang;
Woo Hyuk Choi;
Sang Hun Kim;
Je-Sang Lee;
Soo-Yeon Kim;
Myung Jun Shin;
Yong Beom Shin

Publication type:

Article

Assessment of Intelligence of Duchenne Muscular Dystrophy (DMD) Children and Adults and Parental Stress in a Muscular Dystrophy Center in Nepal.

Published in:

Journal of Nepal Paediatric Society, 2016, v. 36, n. 3, p. 227, doi. 10.3126/jnps.v36i3.16357

By:

M., Rana;
S., Adhikari;
M., Pradhan

Publication type:

Article

Non-Invasive MRI and Spectroscopy of mdx Mice Reveal Temporal Changes in Dystrophic Muscle Imaging and in Energy Deficits.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112477

By:

Heier, Christopher R.;
Guerron, Alfredo D.;
Korotcov, Alexandru;
Lin, Stephen;
Gordish-Dressman, Heather;
Fricke, Stanley;
Sze, Raymond W.;
Hoffman, Eric P.;
Wang, Paul;
Nagaraju, Kanneboyina

Publication type:

Article

Aberrant Location of Inhibitory Synaptic Marker Proteins in the Hippocampus of Dystrophin-Deficient Mice: Implications for Cognitive Impairment in Duchenne Muscular Dystrophy.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108364

By:

Krasowska, Elżbieta;
Zabłocki, Krzysztof;
Górecki, Dariusz C.;
Swinny, Jerome D.

Publication type:

Article

Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0108038

By:

Chen, Chen;
Ma, Hongwei;
Zhang, Feng;
Chen, Lu;
Xing, Xuesha;
Wang, Shusen;
Zhang, Xue;
Luo, Yang

Publication type:

Article

Quality of instruments assessing activity and participation of people with muscular dystrophy: A systematic review of participant-reported outcome measures.

Published in:

Developmental Medicine & Child Neurology, 2022, v. 64, n. 12, p. 1453, doi. 10.1111/dmcn.15345

By:

Andrade, Keysy K. S.;
Soares, Luana A.;
Macedo, Caik C.;
Bispo, Nelcilaine R.;
Sousa Junior, Ricardo R.;
Oliveira, Vinícius C.;
Leite, Hércules R.;
Gaiad, Thaís P.

Publication type:

Article

Performance of Upper Limb module for Duchenne muscular dystrophy.

Published in:

2020

By:

Mayhew, Anna G;
Coratti, Giorgia;
Mazzone, Elena Stacy;
Klingels, Katrijn;
James, Meredith;
Pane, Marika;
Straub, Volker;
Goemans, Natalie;
Mercuri, Eugenio;
Ricotti, Valeria;
Muntoni, Francesco;
Ridout, Deborah;
Selby, Victoria;
Pul Working Group

Publication type:

journal article

A new era in the management of Duchenne muscular dystrophy.

Published in:

2019

By:

Korinthenberg, Rudolf

Publication type:

journal article

Development and content validation of the Muscular Dystrophy Child Health Index of Life with Disabilities questionnaire for children with Duchenne muscular dystrophy.

Published in:

2019

By:

Propp, Roni;
McAdam, Laura;
Davis, Aileen M;
Salbach, Nancy M;
Weir, Shannon;
Encisa, Clarissa;
Narayanan, Unni G

Publication type:

journal article

Poster Presentations.

Published in:: 2017
Publication type:: Abstract

Duchenne muscular dystrophy and the stomatognathic system.

Published in:

2016

By:

Goiato, Marcelo Coelho

Publication type:

journal article

Shedding light on the leukodystrophies.

Published in:

2016

By:

Bonkowsky, Joshua L

Publication type:

journal article

Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.

Published in:

2016

By:

Ricotti, Valeria;
Mandy, William P L;
Scoto, Mariacristina;
Pane, Marika;
Deconinck, Nicolas;
Messina, Sonia;
Mercuri, Eugenio;
Skuse, David H;
Muntoni, Francesco

Publication type:

journal 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

Gait and Sit-To-Stand Motor Compensation Strategies in Children and Adolescents With Duchenne Muscular Dystrophy.

Published in:

Perceptual & Motor Skills, 2023, v. 130, n. 1, p. 221, doi. 10.1177/00315125221128129

By:

Dazzi, Mariana De Abreu Rays;
Sá, Cristina Dos Santos Cardoso De

Publication type:

Article

Motor Compensation Strategies for Reduced Upper Limb Function Among Individuals With Duchenne Muscular Dystrophy.

Published in:

Perceptual & Motor Skills, 2021, v. 128, n. 3, p. 1059, doi. 10.1177/0031512521998278

By:

Maciel, Flaviana Kelly de Lima;
Santos, Ana Lúcia Yaeko da Silva;
Artilheiro, Mariana Cunha;
Sá, Cristina dos Santos Cardoso de

Publication type:

Article