Noriko Miyake - Genetic Mutations

Author Information

Noriko Miyake is a researcher affiliated with the Department of Human Genetics at the Graduate School of Medicine, Yokohama City University in Yokohama, Japan. Her research focuses extensively on genetic disorders and the identification of novel genes associated with various neurodevelopmental and neuromuscular conditions.

Research Contributions

Noriko Miyake has made significant contributions to the field of genetics, particularly in the understanding of neurodevelopmental disorders. Her recent publications delve into various genetic syndromes and conditions, including KCNMA1-related channelopathy, cerebellar ataxia, and kyphomelic dysplasia. She has also contributed to large-scale genomic studies that have identified new disorder-related genes. Additionally, her work has explored therapeutic approaches for conditions such as focal cortical dysplasia and metachromatic leukodystrophy.

Aliases

Noriko Miyake is also known by the aliases N Miyake and N. Miyake.

Publication and Citation Metrics

Metric	Value
Total Citations	14,817
H-index	64
Number of Papers	513

Publications:

Polymicrogyria in a child with KCNMA1-related channelopathy

DOI: 10.1016/j.braindev.2021.09.009

Year: 2022

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

DOI: 10.1093/brain/awab363

Year: 2022

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

DOI: 10.1186/s13073-022-01042-w

Year: 2022

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

DOI: 10.1002/acn3.51505

Year: 2022

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

DOI: 10.1111/cge.14133

Year: 2022

Whole exome sequencing revealed a mutation in COL6A1 associated with ullrich congenital muscular dystrophy

DOI: 10.15625/1811-4989/16157

Year: 2021

SLC4A2 Deficiency Causes a New Type of Osteopetrosis

DOI: 10.1002/jbmr.4462

Year: 2021

Treatment of adult metachromatic leukodystrophy model mice using intrathecal administration of type 9 AAV vector encoding arylsulfatase A

DOI: 10.1038/s41598-021-99979-2

Year: 2021

A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion

DOI: 10.1111/cge.13909

Year: 2021

Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy

DOI: 10.1111/cge.14066

Year: 2021

Can Missense Mutations be Treated or Repaired?

How Do Mutations Occur?

How are Genetic Mutations Identified?

How Does NGS Work?

How Does Biotechnology Impact Environmental Conservation?

What Causes CNVs?

Why is Populace Genomics Important?

What is Genetic Engineering?

What Causes Hemophilia?

How Do Deletion Mutations Occur?

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