eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | |apraxia |
| Sentences | 60 |
| PubMedID- 26256098 | Mutations in aptx cause an inherited human disease syndrome characterized by early-onset progressive ataxia with ocular motor apraxia (aoa1). |
| PubMedID- 20687492 | Significant attention has been given on the dna ssb repair (ssbr) system in neurons, because the impairment of the ssbr causes human neurodegenerative disorders, including early-onset ataxia with ocular motor apraxia and hypoalbuminemia (eaoh), also known as ataxia-oculomotor apraxia type 1 (aoa1). |
| PubMedID- 23593030 | Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (aoa2), plays an important role in maintaining genome integrity by coordination of transcription, dna replication, and the dna damage response. |
| PubMedID- 20713024 | (1)h mr spectroscopy in friedreich's ataxia and ataxia with oculomotor apraxia type 2. |
| PubMedID- 24760770 | Mutations in setx cause the recessive disorder ataxia with oculomotor apraxia type 2 (aoa2) and a dominant juvenile form of amyotrophic lateral sclerosis (als4). |
| PubMedID- 23129421 | Mutations in the senataxin (setx) gene can cause amyotrophic lateral sclerosis 4 (als4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. |
| PubMedID- 23524341 | As a proof of principle cockayne syndrome, ataxia with oculomotor apraxia 1 (aoa1), spinocerebellar ataxia with axonal neuropathy 1 (scan1) and ataxia-telangiectasia have recently been shown to have mitochondrial dysfunction and those diseases showed strong association with mitochondrial disorders. |
| PubMedID- 19593598 | ataxia with oculomotor apraxia (aoa) type 2 (aoa2 mim 606002) is a recessive subtype of aoa characterized by cerebellar atrophy, oculomotor apraxia, early loss of reflexes, and peripheral neuropathy. |
| PubMedID- 24694197 | Mutations in human senataxin (setx), an ortholog yeast protein of sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (aoa2) and juvenile amyotrophic lateral sclerosis (als4), two types of progressive motor neuron degeneration. |
| PubMedID- 21412945 | Aptx is the gene involved in ataxia with oculomotor apraxia type 1 (aoa1), a recessive disorder with early-onset cerebellar ataxia, oculomotor apraxia and peripheral neuropathy. |
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