Publications by authors named "Noriko Miyake"

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A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
J Hum Genet 2018 May 28;63(5):673-676. Epub 2018 Feb 28.
Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.
J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

variants in and cause neurodevelopmental disorders.
Ann Clin Transl Neurol 2018 Mar 29;5(3):280-296. Epub 2018 Jan 29.
Department of BiochemistryHamamatsu University School of Medicine1-20-1 Handayama, Higashi-kuHamamatsu431-3192Japan.

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
J Hum Genet 2017 Nov 20;62(11):997-1000. Epub 2017 Jul 20.
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.

Succinate dehydrogenase B-deficient renal cell carcinoma: A case report with novel germline mutation.
Pathol Int 2017 Nov 28;67(11):585-589. Epub 2017 Sep 28.
Department of Pathology, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama 236-0004, Japan.

Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
J Orthop Sci 2017 Sep 23;22(5):967-971. Epub 2016 Feb 23.
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan. Electronic address:

Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Clin Biochem 2017 Aug 24;50(12):670-677. Epub 2017 Feb 24.
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science Hokkaido University, Sapporo 001-0021, Japan. Electronic address:

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.
Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Am J Med Genet A 2016 Aug 5;170(8):1967-73. Epub 2016 Jun 5.
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.
J Med Genet 2016 08 7;53(8):568-74. Epub 2016 Apr 7.
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan Department of Orthopaedics, National Rehabilitation Center for Disabled Children, Tokyo, Japan.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet 2016 06 26;98(6):1243-1248. Epub 2016 May 26.
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea. Electronic address: