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.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet 2016 Jun 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:

Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
Hum Genet 2016 Jan 12;135(1):61-8. Epub 2015 Nov 12.
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells.
Hum Gene Ther 2015 Dec 19;26(12):801-12. Epub 2015 Nov 19.
1 Division of Gene Therapy, Department of Biochemistry and Molecular Biology, Research Center for Advanced Medical Technology, Nippon Medical School, Tokyo, Japan .

Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector.
Sci Rep 2015 Aug 18;5:13104. Epub 2015 Aug 18.
Department of Biochemistry and Molecular Biology; Division of Gene Therapy, Research Center for Advanced Medical Technology; Nippon Medical School, Tokyo, 113-8603, Japan.

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.