Results 41 to 50 of about 12,639 (247)

Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA

International Journal of Neonatal Screening, 2019
Numerous studies have shown evidence supporting the benefits of universal newborn screening for primary immunodeficiencies (PID) and for Spinal Muscular Atrophy (SMA).
Cristina Gutierrez-Mateo, Anne Timonen, Katja Vaahtera, Markku Jaakkola, David M Hougaard, Jonas Bybjerg-Grauholm, Marie Baekvad-Hansen, Dea Adamsen, Galina Filippov, Stephanie Dallaire, David Goldfarb, Daniel Schoener, Rongcong Wu   +12 more
doaj   +1 more source

Elastic and magnetic effects on the infrared phonon spectra of MnF2 [PDF]

, 2010
We measured the temperature dependent infrared reflectivity spectra of MnF2 between 4 K and room temperature. We show that the phonon spectrum undergoes a strong renormalization at TN.
C. S. Nelson, G. A. Smolenskii, J. Varignon, M. B. Lepetit, R. Dovesi, R. L. Moreira, R. P. S. M. Lobo, R. Schleck, S. V. Kiselev, W. Baltensperger, Y. Nahas   +10 more
core   +3 more sources

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H., Hunter, G., Lamont, D. J., Mutsaers, C. A., Wishart, T. M.   +4 more
core   +3 more sources

Cellular bases of the RNA metabolism dysfunction in motor neurons of a murine model of spinal muscular atrophy: Role of Cajal bodies and the nucleolus [PDF]

, 2017
Spinal muscular atrophy (SMA) is caused by a homozygous deletion or mutation in the survival motor neuron 1 (SMN1) gene that leads to reduced levels of SMN protein resulting in degeneration of motor neurons (MNs).
Berciano, Maria T., Calderó i Pardo, Jordi, Lafarga, Miguel, Narcís, Oriol J., Piedrafita Llorens, Lídia, Riancho, Javier, Tapia, Olga, Tarabal Mostazo, Olga   +7 more
core   +2 more sources

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers

Genes, 2023
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers.
Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva   +8 more
openaire   +2 more sources

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?

Frontiers in Genetics, 2020
Spinal muscular atrophy (SMA) is a neuromuscular disorder, characterized by muscle atrophy and impaired mobility. A homozygous deletion of survival motor neuron 1 (SMN1), exon 7 is the main cause of SMA in ~94% of patients worldwide, but only accounts ...
Elana Vorster, Fahmida B. Essop, John L. Rodda, Amanda Krause   +3 more
doaj   +1 more source

Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes

Egyptian Journal of Medical Human Genetics, 2020
Background Spinal muscular atrophy (SMA) is mostly caused by homozygous deletions in the survival motor neuron 1 (SMN1) gene. SMN2, its paralogous gene, is a genetic modifier of the disease phenotype, and its copy number is correlated with SMA severity ...
Yuri Yépez, Irene Paradisi, Sergio Arias   +2 more
doaj   +1 more source

Colorimetric Assay for Exon 7 SMN1/SMN2 Single Nucleotide Polymorphism Using Gold Nanoprobes [PDF]

BioImpacts, 2013
Introduction: Proximal spinal muscular atrophy (SMA) is one of the most significant neurodegenerative diseases amongst the autosomal-recessive genetic disorders which is caused by the absence of protein survival of motor neuron (SMN).
Hossein Ahmadpour-Yazdi, Mohammad Reza Hormozi-Nezhad, Ali Reza Abadi, Mohammad Hossein Sanati, Bahram Kazemi   +4 more
doaj   +1 more source

Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]

, 2008
Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core   +1 more source