Search Results - "Matsuda, Mieko"
-
1
In vivo distribution and localization of chorein
Published in Biochemical and biophysical research communications (09-02-2007)“…Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. In this…”
Get full text
Journal Article -
2
Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree
Published in Journal of the neurological sciences (15-12-2007)“…Abstract Background Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and…”
Get full text
Journal Article -
3
Adult‐type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case
Published in Psychiatry and clinical neurosciences (01-02-2011)“…Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A. MLD is a heterogeneous…”
Get full text
Journal Article -
4
Terrestrial Neutron-Induced Single-Event Burnout in SiC Power Diodes
Published in IEEE transactions on nuclear science (01-08-2012)“…Tolerance against single-event burnout (SEB) caused by terrestrial neutrons is one of the urgent issues in practical application of SiC power devices. This…”
Get full text
Journal Article -
5
Intrarenal pelvic papillary Wilms’ tumor associated with aniridia: A case report
Published in International journal of urology (01-07-1999)“…Background: Intrarenal pelvic Wilms’ tumor in a papillary growth is rare in children. A case of a two‐year‐old infant with Wilms’ tumor associated with…”
Get full text
Journal Article -
6
Chorein deficiency leads to upregulation of gephyrin and GABAA receptor
Published in Biochemical and biophysical research communications (15-12-2006)Get full text
Journal Article -
7
Chorein deficiency leads to upregulation of gephyrin and GABA A receptor
Published in Biochemical and biophysical research communications (15-12-2006)“…Chorea-acanthocytosis (ChAc) is a hereditary neurodegenerative disorder caused by loss of function mutations in the VPS13A gene encoding chorein. Recently,…”
Get full text
Journal Article -
8
A CASE OF AUTOERYTHROCYTE SENSITIZATION SYNDROME WITH SEVERE DIARRHEA AND RECURRENT HEMATEMESIS
Published in Nihon Naika Gakkai Zasshi (10-12-1978)Get full text
Journal Article -
9
Terrestrial neutron-induced single-event burnout in SiC power diodes
Published in 2011 12th European Conference on Radiation and Its Effects on Components and Systems (01-09-2011)“…Tolerance against single-event burnout (SEB) caused by terrestrial neutrons is one of the urgent issues in practical application of SiC power devices. This…”
Get full text
Conference Proceeding -
10
Clinical studies on a case of agammaglobulinemia and juvenile myxedema (author's transl)
Published in Nihon Naika Gakkai zasshi (10-07-1974)Get full text
Journal Article -
11
Intrarenal pelvic papillary Wilms' tumor associated with aniridia: A case report
Published in International Journal of Urology (01-07-1999)Get full text
Report -
12
A CASE OF AUTOERYTHROCYTE SENSITIZATION SYNDROME WITH SEVERE DIARRHEA AND RECURRENT HEMATEMESIS
Published in Nihon Naika Gakkai zasshi (1978)Get full text
Journal Article -
13
CLINICAL STUDIES ON A CASE OF AGAMMAGLOBULINEMIA AND JUVENILE MYXEDEMA
Published in Nihon Naika Gakkai Zasshi (10-07-1974)Get full text
Journal Article