Search

Author/Creator Fukai, Ryoko

1. A Case of McLeod Syndrome with A Novel XK Missense Mutation. Issue 3 (6th April 2018)

Authors:
Komiya, Hiroyasu; Takasu, Mutsuki; Hashiguchi, Shunta; Uematsu, Eri; Fukai, Ryoko; Tanaka, Kenichi; Tada, Mikiko; Joki, Hideto; Takahashi, Tatsuya; Koyano, Shigeru; Doi, Hiroshi; Takeuchi, Hideyuki; Tanaka, Fumiaki
Journal:
Movement disorders clinical practice
Issue:
Volume 5:Issue 3(2018)
Page Start:
333
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. (31st May 2015)

Authors:
Afifi, Hanan H.; Fukai, Ryoko; Miyake, Noriko; Gamal el Din, Amina A.; Eid, Maha M.; Eid, Ola M.; Thomas, Manal M.; El‐Badry, Tarek H.; Tosson, Angie M. S.; Abdel‐Salam, Ghada M. H.; Matsumoto, Naomichi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2418
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. (31st May 2015)

Authors:
Afifi, Hanan H.; Fukai, Ryoko; Miyake, Noriko; Gamal el Din, Amina A.; Eid, Maha M.; Eid, Ola M.; Thomas, Manal M.; El‐Badry, Tarek H.; Tosson, Angie M. S.; Abdel‐Salam, Ghada M. H.; Matsumoto, Naomichi
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2418
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Issue 1 (December 2016)

Authors:
Kanemasa, Hikaru; Fukai, Ryoko; Sakai, Yasunari; Torio, Michiko; Miyake, Noriko; Lee, Sooyoung; Ono, Hiroaki; Akamine, Satoshi; Nishiyama, Kei; Sanefuji, Masafumi; Ishizaki, Yoshito; Torisu, Hiroyuki; Saitsu, Hirotomo; Matsumoto, Naomichi; Hara, Toshiro
Journal:
BMC neurology
Issue:
Volume 16:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. De Novo Truncating Mutation of TRIM8 Causes Early‐Onset Epileptic Encephalopathy. (July 2016)

Authors:
Sakai, Yasunari; Fukai, Ryoko; Matsushita, Yuki; Miyake, Noriko; Saitsu, Hirotomo; Akamine, Satoshi; Torio, Michiko; Sasazuki, Momoko; Ishizaki, Yoshito; Sanefuji, Masafumi; Torisu, Hiroyuki; Shaw, Chad A; Matsumoto, Naomichi; Hara, Toshiro
Journal:
Annals of human genetics
Issue:
Volume 80:Number 4(2016:Jul.)
Page Start:
235
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy. Issue 6 (22nd October 2019)

Authors:
Okubo, Masaki; Doi, Hiroshi; Fukai, Ryoko; Fujita, Atsushi; Mitsuhashi, Satomi; Hashiguchi, Shunta; Kishida, Hitaru; Ueda, Naohisa; Morihara, Keisuke; Ogasawara, Akihiro; Kawamoto, Yuko; Takahashi, Tatsuya; Takahashi, Keita; Nakamura, Haruko; Kunii, Misako; Tada, Mikiko; Katsumoto, Atsuko; Fukuda...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 6(2019)
Page Start:
962
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Panventriculomegaly with a wide foramen of Magendie and large cisterna magna: clinical, radiological, and genetic analysis. Issue 1 (December 2015)

Authors:
Kageyama, Hiroshi; Ogino, Ikuko; Shimoji, Kazuaki; Nakajima, Madoka; Fukai, Ryoko; Miyake, Noriko; Nishiyama, Kenichi; Matsumoto, Naomichi; Arai, Hajime; Miyajima, Masakazu
Journal:
Fluids and barriers of the CNS
Issue:
Volume 12:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy". Issue 3 (8th July 2020)

Authors:
Doi, Hiroshi; Okubo, Masaki; Fukai, Ryoko; Fujita, Atsushi; Mitsuhashi, Satomi; Takahashi, Keita; Kunii, Misako; Tada, Mikiko; Fukuda, Hiromi; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Sone, Jun; Sobue, Gen; Takeuchi, Hideyuki; Matsumoto, Naomichi; Tanaka, Fumiaki
Journal:
Annals of neurology
Issue:
Volume 88:Issue 3(2020)
Page Start:
642
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗