Results 141 to 150 of about 3,281 (206)

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

[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

[Tribute to the Unidad de Investigación Médica en Nutrición]. [PDF]

Rev Med Inst Mex Seguro Soc
Rodríguez-Cruz M.
europepmc   +1 more source

Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies. [PDF]

J Community Genet
Hoefel AML, Weschenfelder CA, Rosa BF, Donis KC, Saute JAM.   +4 more
europepmc   +1 more source

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

Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins. [PDF]

Medicina (Kaunas)
Luna-Angulo A, Landa-Solís C, Escobar-Cedillo RE, Estrada-Mena FJ, Sánchez-Chapul L, Gómez-Díaz B, Carrillo-Mora P, Avilés-Arnaut H, Jiménez-Hernández L, Jiménez-Hernández DA, Miranda-Duarte A.   +10 more
europepmc   +1 more source

Understanding rare variant contributions to autism: lessons from dystrophin-deficient model. [PDF]

NPJ Genom Med
Costa CIS, Madanelo L, Wang JYT, da Silva Campos G, De Sanctis Girardi AC, Scliar M, Monfardini F, de Cássia Mingroni Pavanello R, Cória VR, Vibranovski MD, Krepischi AC, Lourenço NCV, Zatz M, Yamamoto GL, Zachi EC, Passos-Bueno MR.   +15 more
europepmc   +1 more source

Alterações atencionais na distrofia muscular de duchenne [PDF]

, 2015
openaire   +1 more source

Gene-based therapies for neuromuscular disorders. [PDF]

Arq Neuropsiquiatr
Zanoteli E, França MC, Marques W.
europepmc   +1 more source

Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies. [PDF]

Int J Mol Sci, 2015
López-Hernández LB, Gómez-Díaz B, Luna-Angulo AB, Anaya-Segura M, Bunyan DJ, Zúñiga-Guzman C, Escobar-Cedillo RE, Roque-Ramírez B, Ruano-Calderón LA, Rangel-Villalobos H, López-Hernández JA, Estrada-Mena FJ, García S, Coral-Vázquez RM.   +13 more
europepmc   +1 more source