about
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature.Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients.Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31.Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)Response to Satomura et alA novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia
P50
Q37943557-A77500C9-5BB9-4F62-8702-5865E0A903A1Q39030188-211C4FD6-23AF-4923-80BE-EAA2A36E9E97Q43719873-84AE2B2D-F8F9-482C-9D6B-052B5D568CDEQ47103393-43840B66-B240-468F-BE38-2C3FC39600D1Q47835191-B957228B-3D1D-4991-85DF-D8F03DA489ABQ47911337-AC87C6CE-5D45-4BCD-A68B-CBF484ED06B8Q48240548-0D2C5D20-F452-4835-B6CB-1297035FF7D6Q48332656-1E4BCFA3-AEB0-4880-B6E1-60447E492F99Q48434911-D1E79644-9911-474B-BB6D-5691187D0D81Q53207188-D796886E-3378-4743-84B9-3731BDFFBBCDQ84857531-20013383-B513-4CAD-923E-ECCD78DFD04EQ87414051-DD66034D-741B-454F-9E60-A9276BC75776Q92245782-3B4D9931-9A45-4836-9F14-6054679E15BD
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Katsuya Nakamura
@ast
Katsuya Nakamura
@en
Katsuya Nakamura
@es
Katsuya Nakamura
@nl
Katsuya Nakamura
@sl
type
label
Katsuya Nakamura
@ast
Katsuya Nakamura
@en
Katsuya Nakamura
@es
Katsuya Nakamura
@nl
Katsuya Nakamura
@sl
prefLabel
Katsuya Nakamura
@ast
Katsuya Nakamura
@en
Katsuya Nakamura
@es
Katsuya Nakamura
@nl
Katsuya Nakamura
@sl
P1053
G-9120-2017
P106
P1153
55750641300
P21
P2798
P31
P3829
P3835
katsuya-nakamura
P496
0000-0003-2342-1089
P569
2000-01-01T00:00:00Z