|1|Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. (23299919)
Mercier S.... Desguerre I.
|2|Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
De Luca A.
|3|Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
Khelifi M.M.... Tuffery-Giraud S.
|4|Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
Golla S.... Iannaccone S.T.
|5|Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. (20646909)
Weiss R.M.... Mathews K.D.
|6|Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
Flanigan K.M.... Weiss R.B.
|7|Association of autistic spectrum disorders with dystrophinopathies. (19818935)
Hinton V.J.... De Vivo D.C.
|8|Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
Tanveer N.... Bhatia R.
|9|Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. (19158820)
Miyazaki D.... Ikeda S.
|10|Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
Ceulemans B.P.... Martin J.J.
|11|Cardiac involvement in the dystrophinopathies. (21791770)
Russell M.W.... Metzger J.M.
|12|Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
Au C.G.... Winlaw D.S.
|13|Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)
Cooper S.T.... North K.N.
|14|Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
|15|Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
Dent K.M.... Flanigan K.M.
|16|Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
|17|Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
BAcroud C.... Leturcq F.
|18|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.
|19|The heart in human dystrophinopathies. (12589117)
Finsterer J.... StAPllberger C.
|20|Diagnosis of dystrophinopathy by skin biopsy. (11870717)
Niiyama T.... Osame M.
|21|Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
Berardinelli A.... Lanzi G.
|22|iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. (11474581)
Louboutin J.P.... Wilson J.M.
|23|Glycerol kinase deficiency with dystrophinopathy]. (11555931)
Nakamura A.... Takeda S.
|24|Dystrophinopathies in females. (11057028)
Hausmanowa-Petrusewicz I.... Bojakowski J.
|25|Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
Siciliano G.... Murri L.
|26|Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
|27|Variable histological expression of dystrophinopathy in two females. (10378386)
Doriguzzi C.... Hoffman E.P.
|28|The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
|29|From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
Ozawa E.... Yoshida M.
|30|Dystrophinopathy in a young boy with Klinefelter's syndrome. (9585334)
Santoro L.... Salvatore F.
|31|Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
|32|Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease. (10732808)
Migheli A.... Palmucci L.
|33|Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study. (9077508)
Girlanda P.... Vita G.
|34|Asymptomatic dystrophinopathy. (9096754)
Morrone A.... Hoffman E.P.
|35|Altered distribution of plectin/HD1 in dystrophinopathies. (9352221)
SchrAPder R.... Magin T.M.
Reitter B.... Goebel H.H.
|37|The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
|38|Prognostic factors in mild dystrophinopathies. (8902723)
Angelini C.... Danieli G.A.
|39|HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
Hoffman E.P.... Clemens P.R.
|40|Phenotype of dystrophinopathy in old mdx mice. (7604983)
Lefaucheur J.P.... Sebille A.
|41|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.
|42|Phospholipase A2 activity in dystrophinopathies. (7633184)
Lindahl M.... Hoffman E.P.
|43|Dystrophin, its gene, and the dystrophinopathies. (7484453)
|44|Dystrophinopathies and related disorders. (8579967)
|45|Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
Kyriakides T.... Middleton L.
|46|Anaesthesia-induced rhabdomyolysis causing cardiac arrest: case report and review of anaesthesia and the dystrophinopathies. (7818067)
|47|Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies. (7949630)
Sahashi K.... Sugita H.
|48|Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. (8198142)
Pegoraro E.... Wessel H.B.
|49|Diagnosis of dystrophinopathies: review for the clinician. (8452597)
Miller G.... Wessel H.B.
|50|Dystrophinopathy in isolated cases of myopathy in females. (1579251)
Hoffman E.P.... Rowland L.P.