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1. D型肝炎ウイルス感染の病因、疫学、自然経過、および臨床症状 pathogenesis epidemiology natural history and clinical manifestations of hepatitis d virus infection
2. ライソゾーム膜蛋白質2欠損症（糖原病IIb型、ダノン病） lysosome associated membrane protein 2 deficiency glycogen storage disease iib danon disease
3. D型肝炎ウイルス感染の診断 diagnosis of hepatitis d virus infection
4. ヘリコバクターピロリ感染の細菌学および疫学 bacteriology and epidemiology of helicobacter pylori infection
5. 微細重複症候群 microduplication syndromes

English Journal

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.

Dallabona C1, Abbink TE2, Carrozzo R3, Torraco A3, Legati A4, van Berkel CG2, Niceta M5, Langella T4, Verrigni D3, Rizza T3, Diodato D3, Piemonte F3, Lamantea E4, Fang M6, Zhang J6, Martinelli D7, Bevivino E7, Dionisi-Vici C7, Vanderver A8, Philip SG9, Kurian MA10, Verma IC11, Bijarnia-Mahay S11, Jacinto S12, Furtado F13, Accorsi P14, Ardissone A15, Moroni I15, Ferrero I1, Tartaglia M5, Goffrini P1, Ghezzi D16, van der Knaap MS17, Bertini E18.
Brain : a journal of neurology.Brain.2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29.
This study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic
PMID 26912632

Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.

Hannula-Jouppi K1, Laasanen SL2, Ilander M3, Furio L4, Tuomiranta M5, Marttila R6, Jeskanen L7, Häyry V8, Kanerva M8, Kivirikko S9, Tuomi ML2, Heikkilä H7, Mustjoki S3, Hovnanian A10, Ranki A7.
JAMA dermatology.JAMA Dermatol.2016 Feb 10. doi: 10.1001/jamadermatol.2015.5827. [Epub ahead of print]
Importance: Netherton syndrome (NS) is a rare and severe genodermatosis caused by SPINK5 mutations leading to the loss of lymphoepithelial Kazal-type-related inhibitor (LEKTI). Netherton syndrome is characterized by neonatal scaling erythroderma, a bamboolike hair defect, a substantial skin barrier
PMID 26865388

Teixidó-Tura G1, Franken R2, Galuppo V1, Gutiérrez García-Moreno L1, Borregan M3, Mulder BJ4, García-Dorado D1, Evangelista A1.
Heart (British Cardiac Society).Heart.2016 Feb 4. pii: heartjnl-2015-308535. doi: 10.1136/heartjnl-2015-308535. [Epub ahead of print]
OBJECTIVE: This study aimed to determine aortic disease severity in patients with Loeys-Dietz syndrome (LDS).METHODS: Thirty-three patients with LDS diagnosed and followed up at our unit were included. After reviewing all family trees, 25 deceased family members with clear clinical suspicion of havi
PMID 26848186

Nakamura Akinori,Hineno Akiyo,Yoshida Kunihiro,Sekijima Yoshiki,Hanaoka-Tachibana Naoko,Takei Yo-Ichi,Ohara Shinji,Ikeda Shu-Ichi
AMYOTROPHIC LATERAL SCLEROSIS 13(5), 479-486, 2012-09
… In conclusion, the family showed a marked intrafamilial phenotypic variation associated with the SOD1 C111Y mutation. …
NAID 120005368062

A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

Nakamura Katsuya,Sekijima Yoshiki,Nagamatsu Kiyoshiro,Yoshida Kunihiro,Ikeda Shu-ichi
JOURNAL OF THE NEUROLOGICAL SCIENCES 313(1-2), 189-192, 2012-02-15
… Intrafamilial phenotypic variation is common in BHC/Brain-Thyroid-Lung syndrome and suggests the existence of other genetic or environmental factors regulating TITF-1 function. …
NAID 120005248139

Molecular Epidemiology of Methicillin-Resistant Staphylococcus aureus Isolated from Children in a Community with Low Antimicrobial Pressure in Japan

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Japanese Journal of Infectious Diseases 65(6), 483-488, 2012
… Intrafamilial transmission was observed in neonates identified with the SCCmecIV MRSA strains, and these strains were genetically typed as community-associated MRSA; …
NAID 130002588755