Results 181 to 190 of about 9,755 (237)

Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program. [PDF]

Int J Neonatal Screen
Leanca MC, Onose G, Nicolae G, Neagu E, Vasile D, Bercu E, Balanescu OM, Capitanescu A, Munteanu C, Popescu C, Mirea A.   +10 more
europepmc   +1 more source

Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review. [PDF]

Hum Genomics
Xia Y, Ma Y.
europepmc   +1 more source

Molecular Dynamics Simulation and Structural Insights into The SMN1 Protein Involved in the Pathogenesis of Spinal Muscular Atrophy

P. S. Bagga, Sudhakar Singh, Gobind Ram, Subham Kapil, Ramesh Eerapagula, Punit Puri, Jitender Kumar, Imran Sheikh   +7 more
openalex   +2 more sources

Multisystem Complications in Spinal Muscular Atrophy Type III: Chronic Respiratory Failure and Intractable Epilepsy. [PDF]

Cureus
Kaufman OR, Ahmad CM, Haberman S, King C.   +3 more
europepmc   +1 more source

SMN1 VUS plasmid data

Brett Stringer (21575024), Yougang Zhang (12717083), Afsaneh Taghipour-Sheshdeh (21674403), Shuxiang Goh (21674405), Heike Kölbel (3826165), Michelle Farrar (6547814), Brunhilde Wirth (9911223), Jean Giacomotto (1520779)   +7 more
openalex   +1 more source

Pre-symptomatic treatment of spinal muscular atrophy: a strategic shift from concept to clinical practice. [PDF]

World J Pediatr
Mao SS.
europepmc   +1 more source

Proband-independent noninvasive prenatal diagnosis for spinal muscular atrophy: early detection paving the way for early prenatal treatment. [PDF]

Ann Med
Li H, Gao S, Li S, Zhao Z, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X.   +9 more
europepmc   +1 more source

SMN1 and NAIP Genes Deletions in Different Types of Spinal Muscular Atrophy in Khuzestan Province, Iran

, 2011
Gholamreza Mohamadian, Fatemeh mosavi, Hamid Galehdari, Ali Akbar Momen, Seyed Reza Kazemi Nezhad   +4 more
openalex   +1 more source

Broadening applications for intrathecal gene therapy: a case for lysosomal storage diseases. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +1 more source

Mifepristone alone and in combination with scAAV9- SMN1 gene therapy improves disease phenotypes in Smn ^2B/- spinal muscular atrophy mice

Emma R Sutton, Eve McCallion, Joseph M. Hoolachan, Özge Çetin, Paloma Pacheco-Torres, Sihame Bouhmidi, Lauren Churchill, Taylor Scaife, Helena Chaytow, Yu-Ting Huang, Stéphanie Duguez, Bernard L. Schneider, Thomas H. Gillingwater, Maria Dimitriadi, Mélissa Bowerman   +14 more
openalex   +1 more source