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ALLMedicine™ Ataxia-oculomotor Apraxia Type 1 Center

Research & Reviews  4 results

Ataxia with oculomotor apraxia type 1
https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1

Dec 31st, 2014 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1168 Definition A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia assoc...

Ataxia with oculomotor apraxia type 1
https://rarediseases.info.nih.gov/diseases/9283/ataxia-with-oculomotor-apraxia-type-1

Dec 31st, 2014 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1168 Definition A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia assoc...

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor...
https://doi.org/10.1007/978-1-4419-6448-9_3
Advances in Experimental Medicine and Biology; Tada M, Yokoseki A et. al.

Aug 6th, 2010 - DNA single-strand breaks (SSBs) are non-overlapping discontinuities in strands ofa DNA duplex. Significant attention has been given on the DNA SSB repair (SSBR) system in neurons, because the impairment of the SSBR causes human neurodegenerative d...

ataxia-oculomotor apraxia type 1 (Concept Id: C1859598) - MedGen - NCBI
https://www.ncbi.nlm.nih.gov/books/?Cmd=Link&Db=medgen&DbFrom=books&IdsFromResult=1487312&LinkName=books_medgen

Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. The first manifestation is prog...

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