Search

Search Constraints

You searched for: Author/Creator Mitsui, Jun

Search Results

1. A case of late‐onset Krabbe disease which showed subacute progression of spastic paresis with bilateral spinal cord lesions. Issue 4 (21st June 2018)

2. A novel multi‐exon deletion in the dysferlin gene of a limb‐girdle muscular dystrophy type 2B Filipino patient. Issue 6 (7th October 2020)

3. A novel mutation in ABCD1 gene in a Filipino patient with adult‐onset X‐linked ALD. Issue 5 (8th July 2020)

4. A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2. (April 2014)

5. AgIn: measuring the landscape of CpG methylation of individual repetitive elements. (17th June 2016)

6. An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support. Issue 4 (27th March 2020)

8. Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. (February 2016)

9. Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. Issue 5 (24th October 2018)

10. Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study. Issue 3 (30th July 2017)