Recessive RYR1 Mutations in a Patient With Severe Congenital Nemaline Myopathy With Ophthalomoplegia Identified Through Massively Parallel SequencingKONDO, Eri; NISHIMURA, Takafumi; FURUKAWA, Toru et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 772-778, issn 1552-4825, 7 p.Article

Three Patients With Severe Bilateral Frontoparietal PolymicrogyriaNAKAYAMA, Tomohiro; OGUNI, Hirokazu; FUNATSUKA, Makoto et al.Pediatric neurology. 2008, Vol 38, Num 5, pp 353-356, issn 0887-8994, 4 p.Article

Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophinTACHI, Nobutada; CHIBA, Shunzo; MATSUO, Masafumi et al.Pediatric neurology. 2001, Vol 24, Num 5, pp 373-378, issn 0887-8994Article

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutationNAKAJIMA, Yoko; MEIJER, Judith; LEE, Tomoko et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 5, pp 801-812, issn 0141-8955, 12 p.Article

Nationwide Survey of Nevoid Basal Cell Carcinoma Syndrome in Japan Revealing the Low Frequency of Basal Cell CarcinomaENDO, Mamiko; FUJII, Katsunori; SUGITA, Katsuo et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 351-357, issn 1552-4825, 7 p.Article

Surgical indication for refractory childhood epilepsy : Indication of Surgical Therapy for Intractable Epilepsies in ChildrenOGUNI, Hirokazu; MUKAHIRA, Kyoko; TANAKA, Teruyuki et al.Epilepsia (Copenhagen). 2001, Vol 41, Num 9, pp 21-25, issn 0013-9580, SUPConference Paper

Loss-of-Function Mutation in the SLC9A6 Gene Causes X-Linked Mental Retardation Resembling Angelman SyndromeTAKAHASHI, Yumi; HOSOKI, Kana; MATSUSHITA, Masafumi et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2011, Vol 156, Num 7, pp 799-807, issn 1552-4841, 9 p.Article

An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxelUCHIYAMA, Toshitaka; KANNO, Hitoshi; ISHITANI, Ken et al.Cancer chemotherapy and pharmacology. 2012, Vol 69, Num 6, pp 1617-1624, issn 0344-5704, 8 p.Article

Altered glycosylation of α-dystroglycan in neurons of fukuyama congenital muscular dystrophy brainsSAITO, Yoshiaki; YAMAMOTO, Tomoko; MIZUGUCHI, Masashi et al.Brain research. 2006, Vol 1075, pp 223-228, issn 0006-8993, 6 p.Article

Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 familiesWEBER, Yvonne G; BERGER, Andrea; NEUBAUER, Bernd et al.Epilepsia (Copenhagen). 2004, Vol 45, Num 6, pp 601-609, issn 0013-9580, 9 p.Article

Aberrant neuronal migration in the brainstem of Fukuyama-type congenital muscular dystrophySAITO, Yoshiaki; KOBAYASHI, Makio; HAYASHI, Kitami et al.Journal of neuropathology and experimental neurology. 2003, Vol 62, Num 5, pp 497-508, issn 0022-3069, 12 p.Article

Hyperzincemia with systemic inflammation: A heritable disorder of calprotectin metabolism with rheumatic manifestations?SAITO, Yoshiaki; SAITO, Kayoko; FUJIKAWA, Satoshi et al.The Journal of pediatrics. 2002, Vol 140, Num 2, pp 267-269, issn 0022-3476Article

Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophyHINO, Naomi; KOBAYASHI, Makio; SHIBATA, Noriyuki et al.Brain & development (Tokyo. 1979). 2001, Vol 23, Num 2, pp 97-107, issn 0387-7604Article

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily geneDATE, Hidetoshi; ONODERA, Osamu; SAKAI, Tetsuo et al.Nature genetics. 2001, Vol 29, Num 2, pp 184-188, issn 1061-4036Article

Genomic copy number variations at 17p13.3 and epileptogenesisSHIMOJIMA, Keiko; SUGIURA, Chitose; TAKAHASHI, Hiroka et al.Epilepsy research. 2010, Vol 89, Num 2-3, pp 303-309, issn 0920-1211, 7 p.Article

Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patientsNAKAYAMA, Yuki; NARA, Noriko; KITAMURA, Toshio et al.The American journal of pathology. 2004, Vol 164, Num 5, pp 1773-1782, issn 0002-9440, 10 p.Article

A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodesITO, Yasushi; SAITO, Kayoko; SHISHIKURA, Keiko et al.Brain & development (Tokyo. 1979). 2003, Vol 25, Num 6, pp 438-441, issn 0387-7604, 4 p.Article

Worldwide distribution and broader clinical spectrum of muscle-eye-brain diseaseTANIGUCHI, Kiyomi; KOBAYASHI, Kazuhiro; FALSAPERLA, Raffaele et al.Human molecular genetics (Print). 2003, Vol 12, Num 5, pp 527-534, issn 0964-6906, 8 p.Article

Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophyYAMAMOTO, Tomoko; KATO, Yoichiro; KARITA, Mizuho et al.Acta neuropathologica. 2002, Vol 104, Num 3, pp 217-224, issn 0001-6322Article