eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | amyotrophic lateral sclerosis |
| Symptom | C0085084|motor neuron disease |
| Sentences | 3 |
| PubMedID- 20951041 | Here we report, for the first time, the occurrence of motor neuron disease, consistent with amyotrophic lateral sclerosis (als), in a 62-year-old woman affected by early-onset slowly progressive cmt2a, due to a novel mfn2 mutation. |
| PubMedID- 24126854 | Owing to the overlapping phenotypes among hsp, amyotrophic lateral sclerosis and ftd with motor neuron disease along with shared pathological findings, we hypothesized that c9orf72 expansions might be a genetic risk factor or modifier of hsp. |
| PubMedID- 26477025 | Nerve ultrasound in the differentiation of multifocal motor neuropathy (mmn) and amyotrophic lateral sclerosis with predominant lower motor neuron disease (als/lmnd). |
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