14 results on '"Akimoto, Chizuru"'
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2. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
3. PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis
4. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
5. Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians
6. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
7. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.
8. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories
9. Translational repression of the McKusick–Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites
10. No GGGGCC-hexanucleotide repeat expansion inC9ORF72in parkinsonism patients in Sweden
11. High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients
12. A novel mutation in X-linked Charcot-Marie-Tooth (CMTX1) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)
13. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
14. [Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)].
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