Results 91 to 100 of about 578 (157)

Genotype-phenotype correlation of neurodevelopmental disorders in patients with dystrophinopathies. [PDF]

J Pediatr (Rio J)
Soares FM, Rosa BF, Giordani GM, Rocha DL, Brusius-Facchin AC, Becker MM, Saute JAM.   +6 more
europepmc   +1 more source

[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]

Rev Med Inst Mex Seguro Soc
González-Morales IJ, Olivera-Bernal GC, León-González C DA, Rosas-Vargas H.   +3 more
europepmc   +1 more source

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. [PDF]

Rev Med Inst Mex Seguro Soc
Flores-Gonzale A, Herrera-Del Valle LE, Lara-Ramírez VR, Marco-Valdez I, Torres-Pedroza AJ, Briceño-Rodas KJ.   +5 more
europepmc   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source

The Economic Burden of Duchenne Muscular Dystrophy: A Systematic Review. [PDF]

Pharmacoeconomics
Landfeldt E, Åberg M, Bello L, Deroo V, Born AP, Giusti S, Ekström AB.   +6 more
europepmc   +1 more source

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]

Arq Bras Cardiol
Ribeiro GNP, Lipari LFVP, Senra PM, Pires LVL, Mizuta MH, Olivetti NQS, Aiello VD, Krieger JE.   +7 more
europepmc   +1 more source

Perceptions of Healthcare Quality in Duchenne Muscular Dystrophy: A Patient Experience Exploratory Study. [PDF]

Healthcare (Basel)
Casillas-Ávila MP, Chavez-Maisterra I, Gómez-Díaz B, Orellana Villazon VI, Escobar-Cedillo RE, Luna-Angulo AB, Zamora González EO, Vázquez-Cárdenas NA, Escotto-Ramírez M, Martínez-Gómez G, López-Hernández LB.   +10 more
europepmc   +1 more source

Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers. [PDF]

Neurol Genet
Vigliano AP, Luce L, Pastor Rueda JM, Chaves H, Mesa L, Carcione M, Mazzanti C, Llames Massini C, Radic CP, Cejas C, Giliberto F.   +10 more
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts. [PDF]

Cells
Cattin E, Schena E, Mattioli E, Marcuzzo S, Bonanno S, Cavalcante P, Corradi F, Benati D, Farinazzo G, Cattaneo M, De Sanctis V, Bertorelli R, Maggi L, Giannotta M, Pini A, Vattemi G, Cassandrini D, Cavallo M, Manferdini C, Lisignoli G, Fontana B, Pace I, Bruno C, Roncarati R, Fiorillo C, Ferracin M, Schirmer EC, Recchia A, Lattanzi G.   +28 more
europepmc   +1 more source