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Motor neuron disease
- ... GG, Puls I, Fischbeck KH, Holzbaur EL. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and ... Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. ...
- ... peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Proc Natl Acad Sci U S A. 2003 ...
- ... reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. ...
- ... of TECPR2 in a complex form of progressive motor neuron disease. Clin Genet. 2016 Aug;90(2):182-5. ...
- ... production, which improves the function and survival of motor neurons and results in less severe disease. More About This Health Condition BCD541 C-BCD541 ...
- ... location in the body most affected by the disease, with SMA-LED-associated mutations primarily affecting motor neurons and intellectual disability-associated mutations primarily affecting neurons ...
- ... and lead to a loss of communication between motor neurons and muscles in the hands and feet. More About This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition GARS1 gene variants ...
- ... cell damage and cell death. The loss of motor neurons causes muscle weakness and spasticity in people with Silver syndrome. More About This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition A few variants ...
- ... mechanism is unknown. The cumulative death of alpha-motor neurons leads to breathing problems and ... cardiac transcription factor ...
- ... found in nerve cells that control muscle movement (motor neurons) in some people with ALS. It is unclear if protein aggregates cause the nerve cell death that leads to ALS. People with ALS caused by mutations in the FUS gene tend to develop the disease at a younger age and have a decreased ...