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JAMA Neurology, ISSN 2168-6149, 01/2016, Volume 73, Issue 1, pp. 111 - 116
IMPORTANCE Duchenne muscular dystrophy (DMD) is a candidate for the recommended universal screening panel based on evidence that early corticosteroid treatment... 
DIAGNOSIS | PHENOTYPE | EXPERIENCE | MUTATIONS | CLINICAL NEUROLOGY | CREATINE-KINASE | FEMALE | DYSTROPHINOPATHY
Journal Article
Clinical and Experimental Pharmacology and Physiology, ISSN 0305-1870, 02/2008, Volume 35, Issue 2, pp. 207 - 210
SUMMARY • Duchenne muscular dystrophy (DMD) is the second most common fatal genetic disease and arises as a consequence of an absence or disruption of the... 
inhibition | dystrophinopathy | Purkinje | Duchenne muscular dystrophy | cerebellum | Cerebellum | Inhibition | Dystrophinopathy
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 08/2019, Volume 29, Issue 8, pp. 601 - 613
We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex... 
Becker muscular dystrophy | cDNA | NGS | MLPA | Dystrophinopathy | Duchenne muscular dystrophy | Genetic research | Genetic aspects | Genetic counseling | Medical genetics
Journal Article
Neurology and Clinical Neuroscience, ISSN 2049-4173, 05/2019, Volume 7, Issue 3, pp. 129 - 131
We report the case of a 64‐year‐old woman with dystrophinopathy exhibiting asymptomatic hyper CK emia and psychiatric symptoms only. Since adolescence, she had... 
dystrophin | female dystrophinopathy | anxiety neuroses | cognitive impairments | mental disorders
Journal Article
Medicina Veterinaria (Brazil), ISSN 1809-4678, 2013, Volume 7, Issue 1, pp. 1 - 10
Journal Article
Muscle & Nerve, ISSN 0148-639X, 09/2013, Volume 48, Issue 3, pp. 343 - 356
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 8, pp. 499 - 504
Journal Article
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY, ISSN 1084-9521, 04/2017, Volume 64, pp. 213 - 223
Because of their contractile activity and their high oxygen consumption and metabolic rate, skeletal muscles continually produce moderate levels of reactive... 
RYR1 | Oxidative stress | CONGENITAL MUSCULAR-DYSTROPHY | CARBONYLATED PROTEINS | Congenital myopathies | Dystrophinopathy | SELENOPROTEIN-N | DEVELOPMENTAL BIOLOGY | CELL BIOLOGY | SKELETAL-MUSCLE | S-NITROSYLATION | SEPN1 | REACTIVE OXYGEN | RYANODINE RECEPTOR | ColVI | MOUSE MODEL | IN-VIVO | MITOCHONDRIAL DYSFUNCTION
Journal Article
by Li, W and Huang, Z and Wang, N and Yuan, Y and Zhang, W
Annals of Physical and Rehabilitation Medicine, ISSN 1877-0657, 07/2018, Volume 61, pp. e326 - e326
According to the variable clinical manifestations, the phenotypes of dystrophinopathy were classified as Duchenne muscular dystrophy (DMD) and Becker muscular... 
Phenotypes | Dystrophinopathy | Genotypes and myopathological changes | Medical research | Phenotype | Analysis | Medicine, Experimental | Genotype | Genetic aspects | Dystrophin
Journal Article
Human Mutation, ISSN 1059-7794, 12/2009, Volume 30, Issue 12, pp. 1657 - 1666
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 03/2018, Volume 386, pp. 74 - 80
Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since... 
Speckle tracking echocardiography | Cardiomyopathy | Late gadolinium enhancement | Female dystrophinopathy carrier | Cardiac magnetic resonance imaging | MOTHERS | ABNORMALITIES | CARDIAC MAGNETIC-RESONANCE | INVOLVEMENT | SYMPTOMS | NEUROSCIENCES | CLINICAL NEUROLOGY | DUCHENNE MUSCULAR-DYSTROPHY
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 07/2018, Volume 28, Issue 7, pp. 572 - 581
Skeletal muscle or cardiac symptoms are known to appear in a certain proportion of female patients carrying the gene mutation. There is limited high-quality... 
Carrier | Burden | Cardiomyopathy | Female dystrophinopathy | Caregiver | SKEWED X INACTIVATION | ABNORMALITIES | CARDIAC MAGNETIC-RESONANCE | INVOLVEMENT | SYMPTOMS | GENETIC-CHARACTERIZATION | NEUROSCIENCES | CLINICAL NEUROLOGY | MANIFESTING CARRIERS | DUCHENNE MUSCULAR-DYSTROPHY | DYSFUNCTION | Women | Caregivers | Muscles | Health aspects | Epidemiology
Journal Article
JOURNAL OF CHILD NEUROLOGY, ISSN 0883-0738, 01/2019, Volume 34, Issue 1, pp. 44 - 53
Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and... 
AMBULATORY MALES | rare disorders | PATTERNS | ALTERNATIVE MEDICINE | population-based | COMPLEMENTARY | CLINICAL NEUROLOGY | INDIVIDUALS | muscular dystrophy | public health surveillance | POPULATION-BASED COHORT | BOYS | SURVEILLANCE | PEDIATRICS | dystrophinopathy | DUCHENNE MUSCULAR-DYSTROPHY | CORTICOSTEROID TREATMENT
Journal Article