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M

Mariko Yagi

Osaka City General Hospital

H指数:23

被引数:1,911

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Natural Course of Pachychoroid Pigment Epitheliopathy

OPHTHALMOLOGY SCIENCE

IF4.6

2022-12-019

OAAI

Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2018-04-058

OAAI

Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-03-0114

PREAI

Changes in body weight and height in survivors of Menkes disease

JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY

IF3.3

2014-10-012

PREAI

Association of a vascular endothelial growth factor polymorphism with the development of bronchopulmonary dysplasia in Japanese premature newborns

SCIENTIFIC REPORTS

IF3.9

2014-03-2527

OAAI

A prostaglandin D2 metabolite is elevated in the urine of Duchenne muscular dystrophy patients and increases further from 8 years old

CLINICA CHIMICA ACTA

IF2.9

2013-08-0135

PREAI

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-12-0111

PREAI

Antisense Oligonucleotide Induced Dystrophin Exon 45 Skipping at a Low Half-Maximal Effective Concentration in a Cell-Free Splicing System

NUCLEIC ACID THERAPEUTICS

IF4.7

2011-10-016

PREAI

Two closely spaced nonsense mutations in the DMD gene in a Malaysian family

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-07-013

PREAI

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

NATURE COMMUNICATIONS

IF15.7

2011-05-1079

OAAI

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4

MOLECULAR GENETICS AND METABOLISM

IF3.5

2010-10-0150

OAAI

High Incidence of Electrocardiogram Abnormalities in Young Patients With Duchenne Muscular Dystrophy

PEDIATRIC NEUROLOGY

IF2.1

2008-12-0140

OAAI

Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients

CLINICA CHIMICA ACTA

IF2.9

2008-05-0110

PREAI

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient

IF3.6

2006-09-2617

PREAI

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene

JOURNAL OF MEDICAL GENETICS

IF3.7

2006-07-0630

OAAI

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy

PEDIATRIC RESEARCH

IF3.1

2006-05-01108

OAAI

Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

IF3.6

2006-03-1027

PREAI

EGFR mRNA is upregulated, but somatic mutations of the gene are hardly found in renal cell carcinoma in Japanese patients

EGFR mRNA上调，但在日本患者的肾细胞癌中几乎没有发现该基因的体细胞突变

PHARMACEUTICAL RESEARCH

IF4.3

2005-09-2219

PREAI

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro

MOLECULAR GENETICS AND METABOLISM

IF3.5

2005-07-0155

PREAI

C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene

PEDIATRIC RESEARCH

IF3.1

2004-11-0116

OAAI