Miyake, Noriko

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Saitsu, H., Nishimura, T., Muramatsu, K., Kodera, H., Kumada, S., Sugai, K., Kasai-Yoshida, E., Sawaura, N., Nishida, H., Hoshino, A., et al. (2013) · Nature Genetics

Neurological diseases and metabolismAutophagy in Disease and Therapy

Cited by 474

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Nakamura, K., Kato, M., Osaka, H., Yamashita, S., Nakagawa, E., Haginoya, K., Tohyama, J., Okuda, M., Wada, T., Shimakawa, S., et al. (2013) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 201

Early onset epileptic encephalopathy caused by de novo SCN 8A mutations

Ohba, C., Kato, M., Takahashi, S., Lerman‐Sagie, T., Lev, D., Terashima, H., Kubota, M., Kawawaki, H., Matsufuji, M., Kojima, Y., et al. (2014) · Epilepsia

Epilepsy research and treatmentIon channel regulation and function

Cited by 158

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 156

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

Cited by 133

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A

Chromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders

Cited by 101

Improved Intravitreal AAV-Mediated Inner Retinal Gene Transduction after Surgical Internal Limiting Membrane Peeling in Cynomolgus Monkeys

Takahashi, K., Igarashi, T., Miyake, K., Kobayashi, M., Yaguchi, C., Iijima, O., Yamazaki, Y., Katakai, Y., Miyake, N., Kameya, S., et al. (2017) · Molecular Therapy

Virus-based gene therapy researchRetinal Development and Disorders

Cited by 99

A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations

Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 88

De novo variants in CAMK 2A and CAMK 2B cause neurodevelopmental disorders

Akita, T., Aoto, K., Kato, M., Shiina, M., Mutoh, H., Nakashima, M., Kuki, I., Okazaki, S., Magara, S., Shiihara, T., et al. (2018) · Annals of Clinical and Translational Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 87

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Nakashima, M., Kato, M., Aoto, K., Shiina, M., Belal, H., Mukaida, S., Kumada, S., Sato, A., Zerem, A., Lerman‐Sagie, T., et al. (2018) · Annals of Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 80

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Shimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 68

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 65

Direct Comparison of Administration Routes for AAV8-mediated Ocular Gene Therapy

Igarashi, T., Miyake, K., Asakawa, N., Miyake, N., Shimada, T., & Takahashi, H. (2013) · Current Eye Research

Virus-based gene therapy researchRetinal Development and Disorders

Cited by 64

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Saitsu, H., Tohyama, J., Walsh, T., Kato, M., Kobayashi, Y., Lee, M., Tsurusaki, Y., Miyake, N., Goto, Y.-I., Nishino, I., et al. (2014) · Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Sakamoto, M., Iwama, K., Sekiguchi, F., Mashimo, H., Kumada, S., Ishigaki, K., Okamoto, N., Behnam, M., Ghadami, M., Koshimizu, E., et al. (2021) · Journal of Human Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 26

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

Tsurusaki, Y., Okamoto, N., Suzuki, Y., Doi, H., Saitsu, H., Miyake, N., & Matsumoto, N. (2011) · Clinical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9