Results 81 to 90 of about 12,639 (247)

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Differences in SMN1 allele frequencies among ethnic groups within North America [PDF]

Journal of Medical Genetics, 2009
Background: Spinal muscular atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the bi-allelic loss of SMN1 exon 7 are reported to account for 94% of affected individuals. Published literature places the carrier frequency for SMN1 mutations between 1 in 25 and 1
Hendrickson, B C, Donohoe, C, Akmaev, V R, Sugarman, E A, Labrousse, P, Boguslavskiy, L, Flynn, K, Rohlfs, E M, Walker, A, Allitto, B, Sears, C, Scholl, T   +11 more
openaire   +2 more sources

Molecular mechanism of neurodegeneration in spinal muscular atrophy

Нервно-мышечные болезни
In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of
A. I. Vlasenko, V. D. Nazarov, S. V. Lapin, A. V. Mazing, E. A. Surkova, T. V. Blinova, M. P. Topuzova, T. M. Alekseeva   +7 more
doaj   +1 more source

Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis

Нервно-мышечные болезни, 2015
Proximal spinal muscular atrophy (SMA) types I-IV is the most common autosomal recessive neuromuscular disease caused by mutations in the SMN1 gene encoding the survival motor neuron protein.
V. V. Zabnenkova, E. L. Dadali, A. V. Polyakov   +2 more
doaj   +1 more source

Simultaneous mutations in SMN1 and SUMM2 fully suppress the dwarf and autoimmune phenotypes of Arabidopsis mpk4 mutant

Plant Signaling & Behavior, 2022
Disruption of the Arabidopsis mitogen-activated protein kinase pathway, MEKK1–MKK1/MKK2–MPK4 (hereafter designated as MEKK1 pathway), leads to the activation of distinct NLRs (nucleotide-binding and leucine-rich repeat receptors), TNL (TIR-type NLR) SMN1,
Momoko Takagi, Suzuna Nagai, Hironori Kaminaka, Kazuya Akimitsu, Ken Shirasu, Kazuya Ichimura   +5 more
doaj   +1 more source

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Quantitative and structural features of the SMN1 and SMN2 genes in patients with spinal muscular atrophy 5q

Нервно-мышечные болезни
Background. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by loss of motor neurons. The cause of neurodegeneration is predominantly a homozygous deletion of the SMN1 gene, leading to a decrease in the ...
A. I. Vlasenko, V. D. Nazarov, S. V. Lapin, A. V. Mazing, E. A. Surkova, T. V. Blinova, T. M. Alekseeva   +6 more
doaj   +1 more source

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

Scientific Reports, 2023
Spinal muscular atrophy (SMA) is among the most common autosomal recessive disorders with different incidence rates in different ethnic groups. In the current study, we have determined SMN1, SMN2 and NAIP copy numbers in an Iranian population using MLPA ...
Shahram Savad, Mahmoud Reza Ashrafi, Niusha Samadaian, Morteza Heidari, Mohammad-Hossein Modarressi, Gholamreza Zamani, Saloomeh Amidi, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Alireza Ronagh, Hossein Shojaaldini Ardakani, Solat Eslami, Soudeh Ghafouri-Fard   +13 more
doaj   +1 more source

An ∼140-kb Deletion Associated with Feline Spinal Muscular Atrophy Implies an Essential LIX1 Function for Motor Neuron Survival [PDF]

, 2006
The leading genetic cause of infant mortality is spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of disorders. Previously we described a domestic cat model of autosomal recessive, juvenile-onset SMA similar to human SMA ...
Agarwala, R., Brichta, Lars, Buzzell, Bethany G., David, Victor A., Drummond, Meghan C., Fyfe, John C., Gregory, Brittany L., Menotti-Raymond, Marilyn, Murphy, William J., O\u27Brien, Stephen J., Schaffer, Alejandro A., Wedemeyer, William J., Wirth, Brunhilde   +12 more
core   +3 more sources