Works matching DE "DIAGNOSIS of Duchenne muscular dystrophy"

Results: 117

Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy.

Published in:

2003

By:

Leroy-Willig, Anne

Publication type:

commentary

Short-Time Anesthesia Management for Duchenne Muscular Dystrophy.

Published in:

Archives of Anesthesiology & Critical Care, 2024, v. 10, n. 3, p. 305

By:

Tarbiat, Masoud;
Bakhshaei, Mohammad Hossein;
Khorshidi, Hamid Reza;
Salimbahrami, Sayed Ahmadreza

Publication type:

Article

Evaluation of copy number variant detection from panel‐based next‐generation sequencing data.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.513

By:

Yao, Ruen;
Yu, Tingting;
Qing, Yanrong;
Wang, Jian;
Shen, Yiping

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

Quality of Life and Sleep in Children Diagnosed with Duchenne Muscular Dystrophy and Their Mothers' Level of Anxiety: a Case-Control Study.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2015, v. 28, n. 4, p. 362, doi. 10.5350/DAJPN2015280412

By:

Ozyurt, Gonca;
Bayram, Erhan;
Karaoglu, Pakize;
Kurul, Semra Hiz;
Yis, Uluc

Publication type:

Article

Diagnóstico prenatal molecular en un feto portador del alelo para distrofia muscular de Duchenne mediante biopsia de vellosidades coriónicas. Reporte de un caso y revisión bibliográfica.

Published in:

Ginecología y Obstetricia de México, 2009, v. 77, n. 2, p. 103

By:

Ortigoza, Miguel Ángel Alcántara;
Ríos, Mónica Aguinaga;
del Ángel, Ariadna González;
de Jesús Zavaleta Abreu, María;
Gallegos, Sandra Acevedo;
Molina, Dora Gilda Mayén;
del Castillo Ruíz, Victoria

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

Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.

Published in:

2017

By:

Zaidman, Craig M.;
Wu, Jim S.;
Kapur, Kush;
Pasternak, Amy;
Madabusi, Lavanya;
Yim, Sung;
Pacheck, Adam;
Szelag, Heather;
Harrington, Tim;
Darras, Basil T.;
Rutkove, Seward B.

Publication type:

journal article

Electrical impedance myography for assessment of Duchenne muscular dystrophy.

Published in:

2017

By:

Rutkove, Seward B.;
Kapur, Kush;
Zaidman, Craig M.;
Wu, Jim S.;
Pasternak, Amy;
Madabusi, Lavanya;
Yim, Sung;
Pacheck, Adam;
Szelag, Heather;
Harrington, Tim;
Darras, Basil T.

Publication type:

journal article

Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India.

Published in:

2023

By:

Suthar, Renu;
Sharma, Suvasini

Publication type:

Editorial

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

A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation.

Published in:

2014

By:

Uzunhan, Tuğce Aksu;
Altunoğlu, Umut;
Yıldız, Edibe Pembegul;
Aydınlı, Nur

Publication type:

Case Study

Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?

Published in:

Jornal de Pediatria, 2020, v. 96, n. 4, p. 503, doi. 10.1016/j.jped.2019.02.003

By:

Chacon Pereira, Aline;
de Queiroz Campos Araújo, Alexandra Prufer;
Gonçalves Ribeiro, Márcia

Publication type:

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

Duchenne Muscular Dystrophy: From Diagnosis to Therapy.

Published in:

Molecules, 2015, v. 20, n. 10, p. 18168, doi. 10.3390/molecules201018168

By:

Falzarano, Maria Sofia;
Scotton, Chiara;
Passarelli, Chiara;
Ferlini, Alessandra

Publication type:

Article

LETHAL GENE MUTATION IN CHILDREN - HOW TO MANAGE THE INEVITABLE?

Published in:

Acta Marisiensis. Seria Medica, 2024, v. 70, p. 282

By:

Teodora-Gabriela, Cîrjan;
Chichişan, Alexia Maria;
Epuras, Luca-Mathew;
Cătană, Andreea

Publication type:

Article

Workshop report: Workshop on psychiatric prescribing and psychology testing and intervention in children and adults with Duchenne muscular dystrophy.

Published in:

Research Ideas & Outcome Journal, 2024, p. 1, doi. 10.3897/rio.10.e119243

By:

Bouquillon, Linda;
Bindman, Dot;
Hendriksen, Jos;
Collin, Phillipe;
Hoskin, Janet;
Conn, Rory;
Geagan, Chloe;
Quinlivan, Ros

Publication type:

Article

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82725-z

By:

Beckers, Pablo;
Caberg, Jean-Hubert;
Dideberg, Vinciane;
Dangouloff, Tamara;
den Dunnen, Johan T.;
Bours, Vincent;
Servais, Laurent;
Boemer, François

Publication type:

Article

Diagnosis of a model of Duchenne muscular dystrophy in blood serum of mdx mice using Raman hyperspectroscopy.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68598-8

By:

Ralbovsky, Nicole M.;
Dey, Paromita;
Galfano, Andrew;
Dey, Bijan K.;
Lednev, Igor K.

Publication type:

Article

Involvement of adiponectin in the pathogenesis of dystrophinopathy.

Published in:

Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0051-9

By:

Abou-Samra, Michel;
Lecompte, Sophie;
Schakman, Olivier;
Noel, Laurence;
Many, Marie C.;
Gailly, Philippe;
Brichard, Sonia M.

Publication type:

Article

Detection of Duchenne/Becker Muscular Dystrophy Carriers in a Group of Iranian Families by Linkage Analysis.

Published in:

Acta Medica Iranica, 2011, v. 49, n. 3, p. 142

By:

Ali Malayeri, Fardeen;
Panjehpour, Mojtaba;
Movahedian, Ahmad;
Ghaffarpour, Majid;
Zamani, Gholam Reza;
Tabrizi, Mina Hajifaraj;
Zamani, Mahdi

Publication type:

Article

Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 1, p. 1, doi. 10.1002/jgc4.1892

By:

Pickart, Angela M.;
Martin, Ann S.;
Gross, Brianna N.;
Dellefave‐Castillo, Lisa M.;
McCallen, Leslie M.;
Nagaraj, Chinmayee B.;
Rippert, Alyssa L.;
Schultz, Catherine P.;
Ulm, Elizabeth A.;
Armstrong, Niki

Publication type:

Article

Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril.

Published in:

2017

By:

Mavrogeni, Sophie;
Giannakopoulou, Aikaterini;
Papavasiliou, Antigoni;
Markousis-Mavrogenis, George;
Pons, Roser;
Karanasios, Evangelos;
Noutsias, Michel;
Kolovou, Genovefa;
Papadopoulos, George

Publication type:

journal article

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

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

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy.

Published in:

Human Genetics, 2006, v. 119, n. 5, p. 516, doi. 10.1007/s00439-006-0159-4

By:

Katayama, Yoshinori;
Tran, Van;
Hoan, Nguyen;
Zhang, Zhujun;
Goji, Katsumi;
Yagi, Mariko;
Takeshima, Yasuhiro;
Saiki, Kayoko;
Nhan, Nguyen;
Matsuo, Masafumi

Publication type:

Article

Functional and isokinetic assessment of muscle strength in patients with idiopathic inflammatory myopathies.

Published in:

Autoimmunity, 2006, v. 39, n. 3, p. 255, doi. 10.1080/08916930600623817

By:

Neri, R.;
Mosca, M.;
Stampacchia, G.;
Vesprini, E.;
Tavoni, A.;
d'Ascanio, A.;
Bombardieri, S.

Publication type:

Article

Non-invasive evaluation of muscle disease in the canine model of Duchenne muscular dystrophy by electrical impedance myography.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173557

By:

Hakim, Chady H.;
Mijailovic, Alex;
Lessa, Thais B.;
Coates, Joan R.;
Shin, Carmen;
Rutkove, Seward B.;
Duan, Dongsheng

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

MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise.

Published in:

2009

By:

Garrood P;
Hollingsworth KG;
Eagle M;
Aribisala BS;
Birchall D;
Bushby K;
Straub V;
Garrood, Penelope;
Hollingsworth, Kieren G;
Eagle, Michelle;
Aribisala, Benjamin S;
Birchall, Daniel;
Bushby, Kate;
Straub, Volker

Publication type:

journal 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

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 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