Results 121 to 130 of about 9,755 (237)

Homozygous deletion of exon 7 in SMN1 gene without phenotypic features of spinal muscular atrophy

, 2022
Mahmoud Ghanei, Seyedeh Helia Sadat Fatemi, Mohammad Soudyab, Reza Jafarzadeh Esfehani   +3 more
openalex   +1 more source

Prevalence of SMN1 gene duplication in different ethnic groups: implication for carrier testing

, 2014
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by symmetrical muscular weakness and atrophy. The incidence is variable from 1 in 6000 to 1 in 10000 live births in different geographic areas.
A. Ravani, C. Trabanelli, L. Melchiorri, FERLINI, Alessandra, P. Rimessi, F. Gualandi, SELVATICI, Rita, A. Balboni, A. Venturoli, B. Dolcini, M. Fabris, M. Taddei Masieri   +11 more
core  

SMN1 and SMN2 Copy Number Determination by droplet digital PCR (ddPCR) based on Extreme Value Theory for Threshold Estimation

, 2017
Spinal muscular atrophy (SMA) is the most frequent genetic cause of infantile death. Homozygous deletion screening of survival of motor neuron (SMN1) represents the first tier in diagnostic testing.
Michael Jansen, Mohammad Niknazar, Oscar Puig   +2 more
core   +1 more source

Prion-Like Domain Dysfunction in SMN1 Initiates Aberrant hnRNP Assembly, Multiple Protein Aggregation and Causing Spinal Muscular Atrophy [PDF]

, 2023
I‐Fan Wang, Chen-Hung Ting, Li‐Kai Tsai, Hsiang‐Yu Chang, Hsing‐Jung Lai, Chien‐Lin Chen   +5 more
openalex   +1 more source

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

, 2010
International audienceSpinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuromuscular disorder is caused by the loss or mutation of the telomeric copy of the 'survival of motor neuron' (Smn) gene, termed ...
Dominguez, Elisa, Elisa Dominguez, Pereira de Moura, Aurélie, Chatauret, Nicolas, Voit, Thomas, Philippe Ravassard, Aurélie Pereira de Moura, Romain Carcenac, Martine Barkats, Sofia Benkhelifa-Ziyyat, Marais, Thibaut, Barkats, Martine, Thomas Voit, Astord, Stéphanie, Nicolas Chatauret, Carcenac, Romain, Stéphanie Astord, Benkhelifa-Ziyyat, Sofia, Ravassard, Philippe, Duque, Sandra, Thibaut Marais, Sandra Duque   +21 more
core   +1 more source

Differential 3′ splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

, 2009
Spinal Muscular atrophy is a prevalent genetic disease caused by mutation of the SMN1 gene, which encodes the SMN protein involved in assembly of small nuclear ribonucleoprotein (snRNP) complexes.
Bonnal, S., De Araújo, M. M., Valcárcel, J., Krainer, A. R., Hastings, M. L.   +4 more
core   +1 more source

The prevalence of SMN gene deletion/duplication in spinal muscular atrophy families referred to neuro-genetic centers of Mashhad, Iran

Egyptian Journal of Medical Human Genetics
Background Spinal muscular atrophy (SMA) is a group of motor neuron diseases. In 95% of SMA patients, the telomeric copy of the SMN gene (SMN1) is homozygously deleted.
Mohammad Shariati, Alireza Davoudi, Reza Boostani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Nafiseh Todarbary, Javad Akhondian, Narges Hashemi, Ariane Sadr-Nabavi   +8 more
doaj   +1 more source

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

, 2011
International audienceSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting, in most cases, from homozygous deletions of the SMN1 gene or, in rare cases, from SMN1 intragenic mutations.
Funalot, Benoît, Saugier-Veber, Pascale, Mario Tosi, Fehrenbach, Séverine, Jean-Michel Vallat, Pascale Saugier-Veber, Drunat, Séverine, Tosi, Mario, Séverine Fehrenbach, Virginie N'Guyen-Viet, Alexandra Martins, Martins, Alexandra, N'Guyen-Viet, Virginie, Vallat, Jean-Michel, Bénédicte Gérard, Frebourg, Thierry, Vezain, Myriam, Myriam Vezain, Séverine Drunat, Thierry Frébourg, Benoît Funalot, Gérard, Bénédicte   +21 more
core   +1 more source

High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing [PDF]

, 2019
Přemysl Souček, Kamila Réblová, Michal Kramárek, Lenka Radová, Tereza Grymová, Pavla Hujová, Tatiana Kováčová, Matej Lexa, Lucie Grodecká, Tomáš Freiberger   +9 more
openalex   +1 more source

SMN1 wt Allele [PDF]

, 2020
openaire   +1 more source