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Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen.
- Published in:
- Der Nervenarzt, 2023, v. 94, n. 6, p. 473, doi. 10.1007/s00115-023-01495-3
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- Publication type:
- Article
CASE REPORT: EARLY-ONSET CARDIAC INVOLVEMENT IN BECKER MUSCULAR DYSTROPHY.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 296
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- Publication type:
- Article
Variants in the Sequence of the Probe Hybridization Site May Affect MLPA Performance in Patients with Duchenne/Becker Muscular Dystrophy.
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- Journal of Applied Laboratory Medicine, 2023, v. 8, n. 3, p. 469, doi. 10.1093/jalm/jfac136
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- Publication type:
- Article
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
- Published in:
- Human Genetics, 2005, v. 117, n. 1, p. 92, doi. 10.1007/s00439-005-1270-7
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- Publication type:
- Article
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.
- Published in:
- Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6
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- Publication type:
- Article
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 272, doi. 10.1007/s00439-002-0881-5
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- 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
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- Publication type:
- Article
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 3, p. 151, doi. 10.1038/jhg.2014.112
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- Publication type:
- Article
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
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- Journal of Human Genetics, 2014, v. 59, n. 8, p. 454, doi. 10.1038/jhg.2014.54
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- Publication type:
- Article
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
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- Journal of Human Genetics, 2014, v. 59, n. 1, p. 46, doi. 10.1038/jhg.2013.119
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- Publication type:
- Article
Clinicopathologic characteristics of early-onset Becker's nevus in Korean children and adolescents.
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- International Journal of Dermatology, 2018, v. 57, n. 1, p. 55, doi. 10.1111/ijd.13779
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- Article
Becker's nevus syndrome: a report of a rare disease with unusual associations.
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 4, p. 458, doi. 10.1111/ijd.13378
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- Publication type:
- Article
Functional muscle ischemia in Duchenne and Becker muscular dystrophy.
- Published in:
- Frontiers in Physiology, 2013, v. 4, p. 1, doi. 10.3389/fphys.2013.00381
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- Publication type:
- Article
Autonomic regulation in muscular dystrophy.
- Published in:
- 2013
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- Publication type:
- Opinion
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Restrospective Study.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00196
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- Publication type:
- Article
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy.
- Published in:
- Nutrients, 2018, v. 10, n. 12, p. 1947, doi. 10.3390/nu10121947
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- Publication type:
- Article
Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy—Implications for Therapies.
- Published in:
- Nutrients, 2018, v. 10, n. 6, p. 796, doi. 10.3390/nu10060796
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- Publication type:
- Article
Adult patient with Becker dystrophy undergoing orthopedic surgery: an anesthesia challenge.
- Published in:
- International Medical Case Reports Journal, 2018, v. 11, p. 33, doi. 10.2147/IMCRJ.S150037
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- Publication type:
- Article
Exon 46-48 Deletion of DMD Gene - A Boon in Beckers Muscular Dystrophy.
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- Journal of Nepal Paediatric Society, 2021, v. 41, n. 2, p. 286, doi. 10.3126/jnps.v41i2.35321
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- 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
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- Publication type:
- journal article
First use of an intra-pericardial continuous flow ventricular assist device in a child with muscular dystrophy.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical Characteristics of Aged Becker Muscular Dystrophy Patients with Onset after 30 Years.
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- European Neurology, 1999, v. 42, n. 3, p. 145, doi. 10.1159/000008089
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- Publication type:
- Article
T1 mapping is abnormal before decline in EF in patients with Becker and Duchenne muscular dystrophy.
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- 2013
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- Publication type:
- Abstract
Progression of myocardial fibrosis by magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy.
- Published in:
- 2013
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- Publication type:
- Abstract
Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach.
- Published in:
- Journal of Cardiovascular Magnetic Resonance (BioMed Central), 2008, v. 10, p. 1
- Publication type:
- Article
ANALYSIS OF MUSCLE CALPAIN-3 IN LGMD 2A.
- Published in:
- Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2008, v. 18, p. 181
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- Publication type:
- Article
Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2021, v. 19, n. 1, p. 15, doi. 10.4274/jcp.2021.0003
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- 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
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- 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
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- 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
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- Publication type:
- Article
In Memoriam: Folker Hanefeld, MD, PhD, June 28, 1937–May 9, 2022.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 10/11, p. 889, doi. 10.1177/08830738221116242
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- Publication type:
- Article
Health-Related Quality of Life and Emotional Distress Among Mothers of Sons With Muscular Dystrophy as Compared to Sex- and Age Group–Matched Controls.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 3, p. 177, doi. 10.1177/0883073820962927
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- Publication type:
- Article
Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy.
- Published in:
- Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 993, doi. 10.1002/jgc4.1151
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- Publication type:
- Article
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence.
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- Journal of Genetic Counseling, 2018, v. 27, n. 6, p. 1349, doi. 10.1007/s10897-018-0266-0
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- Publication type:
- Article
The Process of Disclosure: Mothers’ Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters.
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1265, doi. 10.1007/s10897-018-0251-7
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- Publication type:
- Article
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy.
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- Journal of Genetic Counseling, 2018, v. 27, n. 1, p. 197, doi. 10.1007/s10897-017-0141-4
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- Publication type:
- Article
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.
- Published in:
- 2019
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- Publication type:
- journal article
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
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- Publication type:
- journal article
DMD transcript imbalance determines dystrophin levels.
- Published in:
- FASEB Journal, 2013, v. 27, n. 12, p. 4909, doi. 10.1096/fj.13-232025
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- Publication type:
- Article
Nontraumatic Pneumocephalus after Noninvasive Ventilation.
- Published in:
- 2023
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- Publication type:
- Case Study
Effect of vitamin D on Becker muscular dystrophy: A review.
- Published in:
- Tropical Journal of Pharmaceutical Research, 2020, v. 19, n. 12, p. 2691, doi. 10.4314/tjpr.v19i12.30
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- Publication type:
- Article
A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies.
- Published in:
- 2023
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- Publication type:
- Case Study
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.
- Published in:
- 2016
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- Publication type:
- Case Study
Cardiac considerations in the operative management of the patient with Duchenne or Becker muscular dystrophy.
- Published in:
- Pediatric Anesthesia, 2013, v. 23, n. 9, p. 777, doi. 10.1111/pan.12229
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- Publication type:
- Article
Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.
- Published in:
- Pediatric Anesthesia, 2013, v. 23, n. 9, p. 855, doi. 10.1111/pan.12248
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- Publication type:
- Article
Global muscular dystrophy research: A 25-year bibliometric perspective.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification.
- Published in:
- Neurology India, 2011, v. 59, n. 6, p. 803, doi. 10.4103/0028-3886.91355
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- Publication type:
- Article
Duchenne or Becker muscular dystrophy: A clinical, genetic and immunohistochemical study in China.
- Published in:
- Neurology India, 2011, v. 59, n. 6, p. 797, doi. 10.4103/0028-3886.91354
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- Publication type:
- Article
Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation.
- Published in:
- Neurology India, 2008, v. 56, n. 3, p. 248, doi. 10.4103/0028-3886.43442
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- Publication type:
- Article
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
- Published in:
- Neurology India, 2004, v. 52, n. 4, p. 496
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- Publication type:
- Article