Results 111 to 120 of about 9,755 (237)

Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines

Stem Cell Research, 2019
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target ...
K.R. Valetdinova, M.A. Maretina, M.L. Kuranova, E.V. Grigor'eva, Y.M. Minina, E.A. Kizilova, A.V. Kiselev, S.P. Medvedev, V.S. Baranov, S.M. Zakian   +9 more
doaj   +1 more source

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls [PDF]

, 2015
Ping Fang, Liang Li, Jian Zeng, Wanjun Zhou, Weiqing Wu, Zeyan Zhong, Tizhen Yan, Jiansheng Xie, Jing Huang, Lin Li, Ying Zhao, Xiangmin Xu   +11 more
openalex   +1 more source

Gamet donors SMN1 and SMN2 laboratory testing

, 2018
Práce je věnována neurodegenerativní chorobě, spinální muskulární atrofii. Zabývá se geny SMN1 a SMN2 a jejich genetickými mutacemi, které jsou za toto onemocnění zodpovědné.
Ševčíková, Aneta
core  

Survival of motor neuron 1 telomeric (SMN1; SMN); survival of motor neuron 2 centromeric (SMN2; SMNC) [PDF]

, 2009

openalex   +1 more source

P271: Beyond SMN1: Review of genotype-phenotype correlation in individuals with ≥4 SMN2 copy numbers

, 2023
Zöe Powis, Meagan Nashawaty, Andrea Paal, Khalida Liaquat   +3 more
openalex   +1 more source

Detekciya razlichnyh form poteri gena SMN1 s pomoshch'yu nabora dlya PCR-RV [PDF]

, 2023
В. Д. Назаров, К. К. Черебилло, С. В. Лапин, Д. В. Сидоренко, Е. А. Девяткина, А. К. Мусонова, Tsveta Petrova, А. И. Никифорова, Александра Иванова   +8 more
openalex   +1 more source

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

, 2014
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have SMA offspring ...
Barcelo, MJ, Abad Vázquez, Cipriano Carlos, Millan, JM, Baiget, M, Martinez-Hernandez, R, Also-Rallo, E, Bernal, S, Tizzano, EF, Alias, L, Santana Rodríguez, Alfredo   +9 more
core   +1 more source

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

European Journal of Neurology, 2009
Background and purpose:  Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large‐scale population‐based studies of SMA have been performed in Iran, previous estimates have indicated that the incidence of autosomal recessive ...
Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H   +11 more
openaire   +4 more sources

Biodistribution and Tolerability of AAV-PHP.B-CBh- SMN1 in Wistar Han Rats and Cynomolgus Macaques Reveal Different Toxicologic Profiles

, 2021
Xavier Palazzi, Ingrid D. Pardo, Madhu P. Sirivelu, Leah Newman, Steven W. Kumpf, Jessie Qian, Tania Franks, Sarah Lopes, June Liu, Laura Monarski, Sandra Casinghino, Casey Ritenour, Hayley N. Ritenour, Christopher DuBois, Jennifer Olson, John Graves, Kristin Alexander, Timothy Coskran, Thomas A. Lanz, Joseph T. Brady, Douglas M. McCarty, Somanathan Suryanarayan, Laurence O. Whiteley   +22 more
openalex   +1 more source

Number of samples containing the SMN1/2Δ7–8 variant per tested population.

, 2019
Number of samples containing the SMN1/2Δ7–8 variant per tested population.
Amanda G. Mason (482141), Syamiroh Sulchan (7037498), Reinier Snetselaar (4720644), Raymon Vijzelaar (7037471), Marrit Rinsma (7037477), Rizkat Yilmaz (7037489), Marinka Zegers (7037480), Sylvia Lens (7037495), Martijn Clausen (7037474), Romy Kuilboer (7037492), Jan Schouten (21389), Naomi Molleman (7037483), Renske Boschloo (7037486)   +12 more
core   +1 more source