Motoneuron Diseases
F Lotti, S Przedborski - Vertebrate Motoneurons, 2022 - Springer
… lateral sclerosis, progressive muscular atrophy, spinal muscular atrophy (SMA), … characterized
neuropathologically by the loss of both upper motoneurons and lower motor neurons …
neuropathologically by the loss of both upper motoneurons and lower motor neurons …
Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice
AJ Kordala, N Ahlskog, M Hanifi, A Bhomra, J Stoodley… - bioRxiv, 2022 - biorxiv.org
… Spinal muscular atrophy (SMA) is the leading genetic cause … Loss of SMN leads to
degeneration of lower α-motor neurons … bulk transcriptomic analysis in spinal cords of symptomatic …
degeneration of lower α-motor neurons … bulk transcriptomic analysis in spinal cords of symptomatic …
[PDF][PDF] Thesis submitted for the degree of Doctor of Philosophy
A Al Khleifat - 2019 - kclpure.kcl.ac.uk
… predominantly of motor neurons, characterized by progressive … Progressive muscular atrophy
or lower motor neuron … factors, which includes expansions, repeats, insertions/deletions (…
or lower motor neuron … factors, which includes expansions, repeats, insertions/deletions (…
A male individual with t (2; 7)(p23; q35) anomaly: A case report
A Yıldırım, D Taşkın, Ş Aktaş, M Dündar - avesis.erciyes.edu.tr
… Authorities recommend carrier screening for spinal muscular atrophy, … deletions reveals the
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …
A case with extra derivative choromosome 22
R Atasay, M Demir, M Erdoğan, A Yıldırım, C Gündüz… - avesis.erciyes.edu.tr
… Authorities recommend carrier screening for spinal muscular atrophy, … deletions reveals the
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …
[PDF][PDF] … stem cells and CRISPR/Cas9 gene editing technology for investigation of molecular background of Duchenne muscular dystrophy-related cardiomyopathy
K Andrysiak - 2022 - ruj.uj.edu.pl
… a mutation in the DMD gene (deletion of exon 50) in the … the global transcriptomic and
proteomic analysis of DMD hiPSC-CM … -month-old mice, while muscle atrophy is developed in …
proteomic analysis of DMD hiPSC-CM … -month-old mice, while muscle atrophy is developed in …
Intrafamiliäre Variabilität des Phänotyps der 5q-assoziierten spinalen Muskelatrophie am Beispiel von 2 Geschwistern
B Becker, I Cordts, M Deschauer - Nervenheilkunde, 2022 - thieme-connect.com
… spinal muscular atrophy (5q-SMA) is an autosomal recessive disorder caused by biallelic
defects in the SMN1 (survival of motor neuron 1) gene on … dessen Deletion scheinen mit einem …
defects in the SMN1 (survival of motor neuron 1) gene on … dessen Deletion scheinen mit einem …
[PDF][PDF] KORELACJE GENOTYPOWO-FENOTYPOWE W RDZENIOWYM ZANIKU MIĘŚNI, Z UWZGLĘDNIENIEM FORM RZADKICH
M Jędrzejowska - imdik.pan.pl
… decay of survival motor neuron 1 causes spinal muscular atrophy. … Characterization of
survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. …
survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. …