Results 111 to 120 of about 12,639 (247)

Use of antisense oligonucleotides to enhance exon 7 incorporation in the pre-mRNA splicing of SMN2 [PDF]

, 2004
only availableSpinal muscular atrophy (SMA) is a neurodegenerative disorder that is relatively common in humans and is caused by loss of the survival motor neuron 1 (SMN1) gene.
Baughan, Travis, 1980-, Lorson, Christian (Christian Lawrence), 1969-, Singh, Cyntra   +2 more
core  

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

Correction: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

PLOS ONE, 2016
[This corrects the article DOI: 10.1371/journal.pone.0152439.].
Mohamed-Mounir El Mendili, Timothée Lenglet, Tanya Stojkovic, Anthony Behin, Raquel Guimarães-Costa, François Salachas, Vincent Meininger, Gaelle Bruneteau, Nadine Le Forestier, Pascal Laforêt, Stéphane Lehéricy, Habib Benali, Pierre-François Pradat   +12 more
openaire   +3 more sources

Composition of the Survival Motor Neuron (SMN) complex in Drosophila melanogaster [PDF]

, 2018
Spinal Muscular Atrophy (SMA) is caused by homozygous mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome.
Baillat, David, Droby, Gaith N., Gray, Kelsey M., Kelly, Jo A., Lamond, Angus I., Matera, A. Gregory, Raimer, Amanda C., Schmidt, Casey A., Ten Have, Sara, Wagner, Eric J.   +9 more
core   +3 more sources

Spinal Muscular Atrophy [PDF]

, 2011
Introdução: A Atrofia Muscular Espinhal (AME) é o nome dado a uma doença neuromuscular específica caracterizada pela degeneração dos neurónios motores medulares, condicionando atrofia e fraqueza muscular progressivas. É determinada pela alteração do gene
Francisco, R, Marreiros, H, Pires, M, Soudo, AP, Vieira, JP   +4 more
core  

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source

Distinct domains of the spinal muscular atrophy protein SMN are required for targeting to Cajal bodies in mammalian cells. [PDF]

, 2006
Mutations of the survival motor neuron gene SMN1 cause the inherited disease spinal muscular atrophy (SMA). The ubiquitous SMN protein facilitates the biogenesis of spliceosomal small nuclear ribonucleoproteins (snRNPs).
Cibert, Christian, Gendron, Marie-Claude, Khoobarry, Kevinee, Lefebvre, Suzie, Renvoisé, Benoît, Viollet, Louis   +5 more
core   +3 more sources

Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes

Scientific Reports
Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 (hereinafter referred to as SMN1/2), produce multiple circular RNAs (circRNAs), including C2A–2B–3–4 that encompasses early exons 2A, 2B, 3 and 4.
Diou Luo, Eric W. Ottesen, Ji Heon Lee, Ravindra N. Singh   +3 more
doaj   +1 more source

Genetic Circuitry of Survival Motor Neuron, the Gene Underlying Spinal Muscular Atrophy [PDF]

, 2013
The clinical severity of the neurodegenerative disorder spinal muscular atrophy (SMA) is dependent on the levels of functional Survival Motor Neuron (SMN) protein.
Artavanis-Tsakonas, Spyros, Brachat, Sophie, Curtis, Daniel, Davidow, Lance Steven, Dimlich, Douglas, Guruharsha, K. G., Hart, Anne C., Hori, Kazuya, Kankel, Mark William, Loureiro, Joseph, Richardson, Delwood, Rubin, Lee, Sen, Anindya, Sivasankaran, Rajeev, Van Vactor, David L., Yokokura, Takakazu   +15 more
core   +1 more source

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

PLoS ONE, 2019
Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene.
Raymon Vijzelaar, Reinier Snetselaar, Martijn Clausen, Amanda G Mason, Marrit Rinsma, Marinka Zegers, Naomi Molleman, Renske Boschloo, Rizkat Yilmaz, Romy Kuilboer, Sylvia Lens, Syamiroh Sulchan, Jan Schouten   +12 more
doaj   +1 more source