|1|Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
Luce L.N.... Giliberto F.
|2|Motor unit potentials with satellites in dystrophinopathies. (23369874)
Zalewska E.... Hausmanowa-Petrusewicz I.
|3|The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. (23116935)
Ferlini A.... Gualandi F.
|4|Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. (23299919)
Mercier S.... Desguerre I.
|5|Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
Verhaart I.E.... van der Weerd L.
|7|Symptomatic dystrophinopathies in female children. (21186124)
Seemann N.... Campbell C.
|8|Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
Golla S.... Iannaccone S.T.
|9|Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
Flanigan K.M.... Weiss R.B.
|10|Association of autistic spectrum disorders with dystrophinopathies. (19818935)
Hinton V.J.... De Vivo D.C.
|11|Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
Tanveer N.... Bhatia R.
|12|Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
Ceulemans B.P.... Martin J.J.
|13|Cardiac involvement in the dystrophinopathies. (21791770)
Russell M.W.... Metzger J.M.
|14|A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
Bovolenta M.... Ferlini A.
|15|Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
Au C.G.... Winlaw D.S.
|16|Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
Tuffery-Giraud S.... Claustres M.
|17|Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
|18|Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
BAcroud C.... Leturcq F.
|19|The dystrophinopathies in Costa Rica. (17361541)
|20|Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
Arning L.... Gencik M.
|21|Immunopathology and molecular genetics of dystrophinopathies. (16106629)
Brown S.C.... Sewry C.A.
|22|Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy. (12522557)
Yagi M.... Matsuo M.
|23|The heart in human dystrophinopathies. (12589117)
Finsterer J.... StAPllberger C.
|24|Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
Berardinelli A.... Lanzi G.
|25|iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. (11474581)
Louboutin J.P.... Wilson J.M.
|26|Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
Suminaga R.... Wada H.
|27|Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. (10734267)
Bardoni A.... Bresolin N.
|28|On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
Oexle K.... Heyer R.
|29|The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
|30|From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
Ozawa E.... Yoshida M.
|31|Dystrophinopathy in a boy with Chediak-Higashi syndrome. (9829279)
von Moers A.... Stoltenburg-Didinger G.
|32|Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
|33|Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
Figarella-Branger D.... Pellissier J.F.
|34|Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study. (9077508)
Girlanda P.... Vita G.
|35|Altered distribution of plectin/HD1 in dystrophinopathies. (9352221)
SchrAPder R.... Magin T.M.
|36|Dystrophinopathies: clarification and complication. (8745379)
SAMAHA F.J.... Quinlan J.G.
|37|HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
Hoffman E.P.... Clemens P.R.
|38|Severe dystrophinopathy in a patient with congenital hypotonia. (8891365)
Cordone G.... Minetti C.
|39|Phenotype of dystrophinopathy in old mdx mice. (7604983)
Lefaucheur J.P.... Sebille A.
|40|X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. (7635465)
Azofeifa J.... Cremer M.
Gallano P.... Baiget M.
|42|Dystrophin, its gene, and the dystrophinopathies. (7484453)
|43|Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
|44|Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
Kyriakides T.... Middleton L.
|45|Anaesthesia-induced rhabdomyolysis causing cardiac arrest: case report and review of anaesthesia and the dystrophinopathies. (7818067)
|46|Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies. (7949630)
Sahashi K.... Sugita H.
|47|Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. (8198142)
Pegoraro E.... Wessel H.B.
|48|Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. (8223790)
Minetti C.... Bonilla E.
Pagon R.A.... Stephens K.
|50|Dystrophinopathy in isolated cases of myopathy in females. (1579251)
Hoffman E.P.... Rowland L.P.