研究成果

[雑誌論文] Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Morino H, Miyamoto R, Ohnishi S, Maruyama H, Kawakami H 2014

[学会発表] OPTN-ALS患者由来iPS細胞研究に向けて

川上秀史,平木啓子,大澤亮介,鈴木秀規,吉澤明生,倉持真人,森野豊之,和泉唯信,梶龍兒,加藤英政,丸山博文 2014

[雑誌論文] Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.

Morino H, Miyamoto R, Ohnishi S, Maruyama H, Kawakami H 2014

[学会発表] 脊髄小脳失調症36型の臨床的特徴および日本人失調症患者2121人の病型別検討

杉原勝宣,丸山博文,宮本亮介,森野豊之,上野弘貴,松本昌泰,北口浩史,雪竹基弘,東靖人,西中和人,織田雅也,和泉唯信,川上秀史 2013

[雑誌論文] Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system

Maruyama H, Morino H, Izumi Y, Noda K, Kawakami H 2013

[学会発表] Novel C10orf2 mutations cause Perrault syndrome

Kawakami H,Morino H,Miyamoto R,Maruyama H 2013

[雑誌論文] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

Izumi Yuishin 2013

[雑誌論文] Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system.

Maruyama H, Morino H, Izumi Y, Noda K, Kawakami H 2013

[学会発表] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

Y Izumi, R Miyamoto, H Morino, A Yoshizawa, K Nishinaka, F Udaka, M Kameyama, H Maruyama, H Kawakami 2013

[学会発表] Perrault症候群の新規原因遺伝子

森野豊之,宮本亮介,丸山博文,川上秀史 2013

[学会発表] VCP変異を認めたMND+IBMの臨床像と家族性ALSにおけるVCP変異の頻度

鎌田正紀,池田和代,久米広大,浦井由光,出口一志,峠哲男,宮本亮介,杉原勝宣,森野豊之,丸山博文,川上秀史 2013

[学会発表] 次世代シーケンサーで確認したSYNE1変異による脊髄小脳変性症の臨床像

和泉唯信,宮本亮介,森野豊之,吉澤明生,西中和人,宇高不可思,亀山正邦,丸山博文,川上秀史 2013

[学会発表] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Y Izumi, R Miyamoto, H Morino, A Yoshizawa, K Nishinaka, F Udaka, M Kameyama, H Maruyama, H Kawakami 2013

[学会発表] Perrault症候群の新規原因遺伝子

森野豊之，宮本亮介，丸山博文，川上秀史 2013

[学会発表] Novel C10orf2 mutations cause Perrault syndrome

Kawakami H，Morino H，Miyamoto R，Maruyama H 2013

[雑誌論文] Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.

Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, Kameyama M, Maruyama H, Kawakami H 2013

[学会発表] SCA36の臨床的特徴

杉原勝宣,丸山博文,宮本亮介,森野豊之,上野弘貴,北口浩史,雪竹基弘,東靖人,西中和人,織田雅也,和泉唯信,川上秀史 2012

[学会発表] ALS関連遺伝子のスクリーニング

杉原勝宣,宮本亮介,鎌田正紀,森野豊之,丸山博文,川上秀史 2012

[学会発表] Exome sequence identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor

R Miyamoto, H Morino, H Maruyama, Y Izumi, R Kaji, H Kawakami 2012

[学会発表] Exome sequencing identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor

宮本亮介,森野豊之,丸山博文,和泉唯信,梶龍兒,川上秀史 2012

[雑誌論文] The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients

Sugihara K, Maruyama H, Morino H, Miyamoto R, Ueno H, Matsumoto M, Kaji R, Kitaguchi H, Yukitake M, Higashi Y, Nishinaka K, Oda M, Izumi Y, Kawakami H 2012

[雑誌論文] Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

Sugihara K, Maruyama H, Kamada M, Morino H, Kawakami H 2011

[雑誌論文] Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay

Tanaka E, Maruyama H, Morino H, Kawakami H 2011

[雑誌論文] The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population

Snapinn KW, Larson EB, Kawakami H, Ujike H, Borenstein AR, Izumi Y, Kaji R, Maruyama H, Mata IF, Morino H, Oda M, Tsuang DW, Yearout D, Edwards KL, Zabetian CP 2011

[学会発表] Optineurin変異による筋萎縮性側索硬化症の臨床経過および原因遺伝子の頻度

丸山博文,和泉唯信,伊東秀文,森野豊之,阿部康二,杉原勝宣,宮本亮介,小畠敬太郎,川上秀史 2011

[雑誌論文] Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients

Hagiwara K, Morino H, Shiihara J, Tanaka T, Miyazawa H, Suzuki T, Kohda M, Okazaki Y, Seyama K, Kawakami H 2011

[学会発表] 筋萎縮性側索硬化症の原因遺伝子オプチニューリンの同定および頻度・臨床症状

丸山博文,森野豊之,伊東秀文,和泉唯信,鎌田正紀,萩原弘一,阿部康二,小牟禮修,小畠敬太郎,上野弘貴,青木正志,日下博文,梶龍兒,川上秀史 2011

[学会発表] Optineurinは筋萎縮性側索硬化症の原因遺伝子である

丸山博文,森野豊之,和泉唯信,伊東秀文,川上秀史