Results 181 to 190 of about 12,639 (247)

Exploring the Prevalence of <i>SMN1</i> Duplication and Deletion in Russia and Its Impact on Carrier Screening. [PDF]

Int J Mol Sci
Mikhalchuk K, Polyakov A, Zabnenkova VV, Ismagilova O, Shchagina O.   +4 more
europepmc   +1 more source

Targeting Astrocytic Connexin 43 Mitigates Glutamate-Driven Motor Neuron Stress in Late-Onset Spinal Muscular Atrophy. [PDF]

Cells
Salmanian S, Schmitt LI, Liebig KC, Hezel S, Roos A, Schara-Schmidt U, Kleinschnitz C, Leo M, Hagenacker T.   +8 more
europepmc   +1 more source

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts [PDF]

Sara L. Cook, Christian Stout, Lindsey A. Kirkeby, Noemi Vidal‐Folch, Devin Oglesbee, Linda Hasadsri, Duygu Selcen, Margherita Milone, Daniel G. Anderson, Nathan P. Staff   +9 more
openalex   +1 more source

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan. [PDF]

Orphanet J Rare Dis
Wang CH, Hsu TR, Liu MY, Wang LY, Chou IJ, Lee WT, Liang WC, Lee IC, Chen HJ, Kao SM, Ho HC, Niu DM, Hsiao KJ, Chang MY, Hsieh HM, Jong YJ.   +15 more
europepmc   +1 more source

Genetics of ALS - genes and modifier. [PDF]

Curr Opin Neurol
Menge S, Decker L, Freischmidt A.
europepmc   +1 more source

Editorial: Special Issue "Genetic Newborn Screening". [PDF]

Genes (Basel)
Nishio H, Awano H.
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

10H-phenothiazine exerts beneficial effects in spinal muscular atrophy in vitro and in vivo models. [PDF]

Sci Rep
Rasà DM, Stanga S, Santonicola P, Mazzarella N, Camera A, Matino I, Zampi G, Boido M, Di Schiavi E, Vercelli A.   +9 more
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

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes. [PDF]

Genes (Basel)
Lee E, Orton K, Kwan E, Faga C, Le T, Shaheen R, Nair V, Cliffe S.   +7 more
europepmc   +1 more source