Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
JOURNAL ARTICLE
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
OBJECTIVES: Mandatory newborn screening (NBS) for spinal muscular atrophy (SMA) was implemented for the first time in Italy at the end of 2021, allowing the identification and treatment of patients at an asymptomatic stage. METHODS: DNA samples extracted from dried blood spot (DBS) from newborns in Apulia region were analysed for SMA screening by using a real-time PCR-based assay. Infants harbouring homozygous deletion of SMN1 exon 7 confirmed by diagnostic molecular tests underwent clinical and neurophysiological assessment and received a timely treatment...
April 10, 2024: Annals of Clinical and Translational Neurology
#2
JOURNAL ARTICLE
Oliver Schwartz, Katharina Vill, Michelle Pfaffenlehner, Max Behrens, Claudia Weiß, Jessika Johannsen, Johannes Friese, Andreas Hahn, Andreas Ziegler, Sabine Illsinger, Martin Smitka, Arpad von Moers, Heike Kölbel, Gudrun Schreiber, Nadja Kaiser, Ekkehard Wilichowski, Marina Flotats-Bastardas, Ralf A Husain, Matthias Baumann, Cornelia Köhler, Regina Trollmann, Annette Schwerin-Nagel, Astrid Eisenkölbl, Mareike Schimmel, Martin Fleger, Birgit Kauffmann, Gert Wiegand, Manuela Baumgartner, Christian Rauscher, Sebahattin Cirak, Dieter Gläser, Günther Bernert, Tim Hagenacker, Susanne Goldbach, Kristina Probst-Schendzielorz, Hanns Lochmüller, Wolfgang Müller-Felber, Ulrike Schara-Schmidt, Maggie C Walter, Janbernd Kirschner, Astrid Pechmann
IMPORTANCE: There is increasing evidence that early diagnosis and treatment are key for outcomes in infants with spinal muscular atrophy (SMA), and newborn screening programs have been implemented to detect the disease before onset of symptoms. However, data from controlled studies that reliably confirm the benefits of newborn screening are lacking. OBJECTIVE: To compare data obtained on patients with SMA diagnosed through newborn screening and those diagnosed after clinical symptom onset...
April 8, 2024: JAMA Pediatrics
#3
JOURNAL ARTICLE
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life...
2024: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
#4
JOURNAL ARTICLE
Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min Li
Spinal muscular atrophy (SMA) is a neuromuscular disorder with an autosomal recessive inheritance pattern. Patients with severe symptoms may suffer respiratory failure, leading to death. The homozygous deletion of exon 7 in the SMN1 gene accounts for nearly 95% of all cases. Population carrier screening for SMA and prenatal diagnosis by amniocentesis for high-risk couples can assist in identifying the risk of fetal disease. We provided the SMA carrier screening process to 55,447 pregnant women in Yancheng from October 2020 to December 2022...
April 6, 2024: Biochemical Genetics
#5
JOURNAL ARTICLE
Florian Malard, Antje C Wolter, Julien Marquevielle, Estelle Morvan, Agathe Ecoutin, Simon H Rüdisser, Frédéric H T Allain, Sebastien Campagne
Pharmacological modulation of RNA splicing by small molecules is an emerging facet of drug discovery. In this context, the SMN2 splicing modifier SMN-C5 was used as a prototype to understand the mode of action of small molecule splicing modifiers and propose the concept of 5'-splice site bulge repair. In this study, we combined in vitro binding assays and structure determination by NMR spectroscopy to identify the binding modes of four other small molecule splicing modifiers that switch the splicing of either the SMN2 or the HTT gene...
March 30, 2024: Nucleic Acids Research
#6
JOURNAL ARTICLE
Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes...
March 27, 2024: Genetic Testing and Molecular Biomarkers
#7
JOURNAL ARTICLE
Kai Ma, Kaihui Zhang, Defang Chen, Chuan Wang, Mohnad Abdalla, Haozheng Zhang, Rujin Tian, Yang Liu, Li Song, Xinyi Zhang, Fangfang Liu, Guohua Liu, Dong Wang
Spinal muscular atrophy (SMA), which results from the deletion or/and mutation in the SMN1 gene, is an autosomal recessive neuromuscular disorder that leads to weakness and muscle atrophy. SMN2 is a paralogous gene of SMN1. SMN2 copy number affects the severity of SMA, but its role in patients treated with disease modifying therapies is unclear. The most appropriate individualized treatment for SMA has not yet been determined. Here, we reported a case of SMA type I with normal breathing and swallowing function...
March 23, 2024: Human Molecular Genetics
#8
JOURNAL ARTICLE
Megan A Iammarino, Lindsay N Alfano, Natalie F Reash, Brenna Sabo, Sara Conroy, Garey Noritz, Madalynn Wendland, Linda P Lowes
PURPOSE: This single-arm prospective cohort study aimed to evaluate the feasibility and utility of in-home body weight support harness system (BWSS) use in children treated for spinal muscular atrophy (SMA). METHODS: Individuals with 2 or 3 copies of SMN2 who received pharmacotherapeutic treatment, had head control, and weight <50lbs were enrolled. Families were provided a BWSS and documented use. Motor outcome assessments were completed at baseline, month 3 and month 6...
2024: PloS One
#9
JOURNAL ARTICLE
Ningning Wang, Kexin Jiao, Jin He, Bochen Zhu, Nachuan Cheng, Jian Sun, Lan Chen, Wanjin Chen, Lingyun Gong, Kai Qiao, Jianying Xi, Qihan Wu, Chongbo Zhao, Wenhua Zhu
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder primarily caused by the deletion or mutation of the survival motor neuron 1 (SMN1) gene. This study assesses the diagnostic potential of long-read sequencing (LRS) in three patients with SMA. For Patient 1, who has a heterozygous SMN1 deletion, LRS unveiled a missense mutation in SMN1 exon 5. In Patient 2, an Alu/Alu-mediated rearrangement covering the SMN1 promoter and exon 1 was identified through a blend of multiplex ligation-dependent probe amplification, LRS, and Gap-PCR...
March 13, 2024: Journal of Molecular Diagnostics: JMD
#10
Claudia Dosi, Riccardo Masson
OBJECTIVE: To review the clinical characteristics and effect of treatment in patients with spinal muscular atrophy (SMA) and three copies of the SMN2 gene. METHODS: We conducted a literature search in October 2022 to identify English-language clinical research on SMA that included SMN2 copy number according to PRISMA guidelines. RESULTS: Our search identified 44 studies examining the impact of three SMN2 copies on clinical characteristics (21 on phenotype, 13 on natural history, and 15 on functional status and other signs/symptoms)...
2024: Frontiers in Neurology
#11
JOURNAL ARTICLE
D V Vlodavets
Spinal muscular atrophy (SMA) is a devastating disease that is the leading genetic cause of death in infants and young children. It includes a broad spectrum of phenotypes that are classified into clinical groups based on the age of onset and maximum motor function achieved. The most common form of SMA is due to a defect in the survival motor neuron 1 gene ( SMN1 ) localized to 5q11.2-q13.3. The development of clinical symptoms and disease progression is thought to be due to decreased levels of survival motor neuron (SMN) protein...
2024: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
#12
Diou Luo, Eric Ottesen, Ji Heon Lee, Ravindra Singh
Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 , produce multiple circular RNAs (circRNAs), including C2A-2B-3-4 that encompasses early exons 2A, 2B, 3 and 4. Here we report the transcriptome- and proteome-wide effects of overexpression of C2A-2B-3-4 in inducible HEK293 cells. Our RNA-Seq analysis revealed altered expression of ~ 15% genes (4,172 genes) by C2A-2B-3-4. About half of the affected genes by C2A-2B-3-4 remained unaffected by L2A-2B-3-4, a linear transcript encompassing exons 2A, 2B, 3 and 4 of SMN1 / SMN2 ...
February 28, 2024: Research Square
#13
JOURNAL ARTICLE
Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone
INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 ( SMN1 ) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma® , Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown. METHODS: This longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1...
2024: Frontiers in Neurology
#14
JOURNAL ARTICLE
Yuma Ishigami, Mandy S Wong, Carlos Martí-Gómez, Andalus Ayaz, Mahdi Kooshkbaghi, Sonya M Hanson, David M McCandlish, Adrian R Krainer, Justin B Kinney
Drugs that target pre-mRNA splicing hold great therapeutic potential, but the quantitative understanding of how these drugs work is limited. Here we introduce mechanistically interpretable quantitative models for the sequence-specific and concentration-dependent behavior of splice-modifying drugs. Using massively parallel splicing assays, RNA-seq experiments, and precision dose-response curves, we obtain quantitative models for two small-molecule drugs, risdiplam and branaplam, developed for treating spinal muscular atrophy...
February 29, 2024: Nature Communications
#15
JOURNAL ARTICLE
Katharina Vill, Moritz Tacke, Anna König, Matthias Baumann, Manuela Baumgartner, Meike Steinbach, Guenther Bernert, Astrid Blaschek, Marcus Deschauer, Marina Flotats-Bastardas, Johannes Friese, Susanne Goldbach, Martin Gross, René Günther, Andreas Hahn, Tim Hagenacker, Erwin Hauser, Veronka Horber, Sabine Illsinger, Jessika Johannsen, Christoph Kamm, Jan C Koch, Heike Koelbel, Cornelia Koehler, Kirsten Kolzter, Hanns Lochmüller, Albert Ludolph, Alexander Mensch, Gerd Meyer Zu Hoerste, Monika Mueller, Wolfgang Mueller-Felber, Christoph Neuwirth, Susanne Petri, Kristina Probst-Schendzielorz, Manuel Pühringer, Robert Steinbach, Ulrike Schara-Schmidt, Mareike Schimmel, Bertold Schrank, Oliver Schwartz, Kurt Schlachter, Annette Schwerin-Nagel, Gudrun Schreiber, Martin Smitka, Raffi Topakian, Regina Trollmann, Matthias Tuerk, Manuela Theophil, Christian Rauscher, Mathias Vorgerd, Maggie C Walter, Markus Weiler, Claudia Weiss, Ekkehard Wilichowski, Claudia D Wurster, Gilbert Wunderlich, Daniel Zeller, Andreas Ziegler, Janbernd Kirschner, Astrid Pechmann
Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland. Inclusion criteria required comprehensive baseline data and diagnosis outside of newborn screening...
February 27, 2024: Journal of Neurology
#16
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Heidi L Rehm, Anne O'Donnell-Luria
Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second most common recessive disorder in individuals of European descent and is present in all populations. Accurate tools exist for diagnosing SMA from short read and long read genome sequencing data. However, there are no publicly available tools for GRCh38-aligned data from panel or exome sequencing assays which continue to be used as first line tests for neuromuscular disorders...
February 27, 2024: medRxiv
#17
JOURNAL ARTICLE
Haya Al-Hilal, Marianna Maretina, Anna Egorova, Andrey Glotov, Anton Kiselev
Spinal muscular atrophy is a neuromuscular disorder caused by mutations in both copies of the survival motor neuron gene 1 ( SMN1 ), which lead to reduction in the production of the SMN protein. Currently, there are several therapies that have been approved for SMA, with many more undergoing active research. While various biomarkers have been proposed for assessing the effectiveness of SMA treatment, a universally accepted one still has not been identified. This study aimed to describe a fast and reliable method using the number of gems in cell nuclei as a potential tool for assessment of splicing correction of oligonucleotide efficacy in SMA cells...
January 19, 2024: Methods and Protocols
#18
JOURNAL ARTICLE
Anton Kiselev, Marianna Maretina, Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il'ina, Svetlana Freund, Natalia Osinovskaya, Iskender Sultanov, Anna Egorova, Anastasia Lobenskaya, Alexander Koroteev, Irina Sosnina, Yulia Gorelik, Olesya Bespalova, Vladislav Baranov, Igor Kogan, Andrey Glotov
Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using a real-time PCR assay with dried blood spots (DBS) was performed from January 2022 through November 2022 in Saint Petersburg, which is a representative Russian megapolis...
January 25, 2024: International Journal of Neonatal Screening
#19
JOURNAL ARTICLE
Abdel Nasser H Abd El Mutaleb, Fawziya A R Ibrahim, Fayed A K Megahed, Ahmed Atta, Bahy A Ali, Tarek E I Omar, Mona M Rashad
Spinal muscular atrophy (SMA) is one of the most prevalent autosomal recessive illnesses with type I being the most severe type. Genomic alterations including survival motor neuron (SMN) copy number as well as deletions in SMN and Neuronal Apoptosis Inhibitory Protein (NAIP) are greatly implicated in the emergence of SMA. However, the association of such alterations with the severity of the disease is yet to be investigated. This study was directed to elucidate the molecular assessment of NAIP and SMN genomic alterations as a useful tool in predicting the severity of SMA among patients...
February 22, 2024: Biochemical Genetics
#20
REVIEW
Ashutosh Aasdev, Sreelekshmi R S, V Rajesh Iyer, Shivranjani C Moharir
Spinal muscular atrophy (SMA) is a neuromuscular, rare genetic disorder caused due to loss-of-function mutations in the survival motor neuron-1 ( SMN1 ) gene, leading to deficiency of the SMN protein. The severity of the disease phenotype is inversely proportional to the copy number of another gene, SMN2 , that differs from SMN1 by a few nucleotides. The current diagnostic methods for SMA include symptom-based diagnosis, biochemical methods like detection of serum creatine kinase, and molecular detection of disease-causing mutations using polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and exome or next-generation sequencing (NGS)...
2024: Journal of Biosciences
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
