Results 121 to 130 of about 2,243 (172)

Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain. [PDF]

Rev Neurol
Ros-Arlanzón P, Pelegrín-Durá L, Aledo-Sala C, Moreno-Navarro L, Vaamonde-Esteban Y, Muñoz-Ambit A, Sánchez-Pérez R, Díaz-Marín C.   +7 more
europepmc   +1 more source

Brazilian Guideline on Dyslipidemias and Prevention of Atherosclerosis - 2025. [PDF]

Arq Bras Cardiol
Rached FH, Miname MH, Rocha VZ, Zimerman A, Cesena FHY, Sposito AC, Santos RDD, Behr PEB, Bianco HT, Alves RJ, Faludi AA, Coutinho EDR, Fonseca FAH, Carvalho LSF, Bertolami A, Rocha AMD, Marte AP, Chagas ACP, Caramelli B, Polanczyk CA, Ferreira CEDS, Serrano Junior CV, Araujo DB, Moriguchi EH, Pinto FJ, Moreira HG, Back IC, Faria Neto JR, Maia KAP, Bertolami MC, Assad MHV, Izar MCO, Barreto MA, Barreto NSF, Silva PGMBE, Pimentel Filho P, Maranhão RC, Kaiser SE, Machado VA, Saraiva JFK.   +39 more
europepmc   +1 more source

Análisis genético y molecular de las enfermedades neurológicas hereditarias [PDF]

, 1996
Palau, Francesc
core  

Cardiomyopathy in Children and Adolescents in the Era of Precision Medicine. [PDF]

Arq Bras Cardiol
Torbey AFM, Couto RGT, Grippa A, Maia EC, Miranda SA, Santos MACD, Peres ET, Costa OPS, Oliveira EM, Mesquita ET.   +9 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

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy. [PDF]

J Bras Pneumol, 2014
Marques TB, Neves Jde C, Portes LA, Salge JM, Zanoteli E, Reed UC.   +5 more
europepmc   +1 more source

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation. [PDF]

PLoS One, 2010
Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Lucia A, Gómez-Foix AM, Martí R, Andreu AL.   +11 more
europepmc   +1 more source

Técnicas de Biología Molecular aplicadas al diagnóstico clínico. Distrofia muscular y talasemias [PDF]

, 1993
Gallano, Pía
core  

[Current situation in prenatal diagnosis]. [PDF]

Aten Primaria, 2004
Bailón Muñoz E.
europepmc   +1 more source

Forma rara de distrofia muscular (ligada ao gene CHKB) identificada através da sequenciação completa do exoma [PDF]

, 2014
Egas, Conceição, Fineza, Isabel, Froufe, Hugo, Gonçalves, Ana Rita, Negrão, Luís, Oliveira, Jorge, Santos, Rosário, Sousa, Mário   +7 more
core