Results 171 to 180 of about 12,639 (247)

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling. [PDF]

Hum Mol Genet
Zwartkruis MM, de Pagter MS, Gommers D, Koopmans M, Ottenheim CPE, Kortooms JV, Albring M, Elferink MG, Wadman RI, Asselman FL, Cuppen I, van der Pol WL, Nelen MR, van Haaften GW, Groen EJN.   +14 more
europepmc   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies. [PDF]

Biology (Basel)
Vezzoli A, Bottai D, Adami R.
europepmc   +1 more source

Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy. [PDF]

Ann Indian Acad Neurol
Singh S, Suthar R, Srivastava P, Pandey A, Kaur A, Sahu JK.   +5 more
europepmc   +1 more source

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

Hu Xi, Wangsheng He, Hailin Jiang, Wenting Xie, Yue Yang, Yulong Yang, Ke Diao, Wenming Yang, Hao Li   +8 more
openalex   +1 more source

Assessment of Genetics Mutation of SMN1, SMA And SMN2 Genes In Spinal Atrophy-Muscle

, 2017
Somayeh Asadi
openalex   +1 more source

In utero therapy for spinal muscular atrophy: closer to clinical translation. [PDF]

Brain
Tizzano EF, Lindner G, Chilcott E, Finkel RS, Yáñez-Muñoz RJ.   +4 more
europepmc   +1 more source

Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insights from Cellular and Vertebrate Disease Models [PDF]

, 2017
Schneider, Svenja
core  

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy. [PDF]

Genome Med
Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano EF, Wadman RI, van der Pol WL, van Haaften GW, Groen EJN.   +19 more
europepmc   +1 more source

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0. [PDF]

Mol Genet Genomic Med
Stokes S, Snipes M, Moore LD, Schlabritz-Lutsevich N, Amy V, Maher J.   +5 more
europepmc   +1 more source

Régulation transcriptionnelle des gènes SMN1 et SMN2 durant la différenciation cellulaire

, 2001
Desprez, Delphine
openalex   +1 more source