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Items: 1 to 50 of 2170

1.

Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.

Hamanaka K, Takahashi K, Miyatake S, Mitsuhashi S, Hamanoue H, Miyaji Y, Fukai R, Doi H, Fujita A, Imagawa E, Iwama K, Nakashima M, Mizuguchi T, Takata A, Miyake N, Takeuchi H, Tanaka F, Matsumoto N.

Clin Genet. 2018 May 21. doi: 10.1111/cge.13369. [Epub ahead of print] No abstract available.

PMID:
29782645
2.

Highly Discriminative and Chemoselective Deprotection/Transformations of Acetals with the Combination of Trialkylsilyl Triflate/2,4,6-Collidine.

Ohta R, Matsumoto N, Ueyama Y, Kuboki Y, Aoyama H, Murai K, Arisawa M, Maegawa T, Fujioka H.

J Org Chem. 2018 May 21. doi: 10.1021/acs.joc.8b00675. [Epub ahead of print]

PMID:
29782161
3.

A synthetic NO reduction cycle on a bis(pyrazolato)-bridged dinuclear ruthenium complex including photo-induced transformation.

Arikawa Y, Hiura J, Tsuchii C, Kodama M, Matsumoto N, Umakoshi K.

Dalton Trans. 2018 May 17. doi: 10.1039/c8dt01208c. [Epub ahead of print]

PMID:
29770405
4.

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.

Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H.

Hum Mutat. 2018 May 16. doi: 10.1002/humu.23550. [Epub ahead of print]

PMID:
29768694
5.

[Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma].

Ogawa Y, Yanagisawa K, Uchiyama Y, Matsumoto A, Inoue M, Toyama K, Miyazawa Y, Matsumoto N, Handa H.

Rinsho Ketsueki. 2018;59(4):383-388. doi: 10.11406/rinketsu.59.383. Japanese.

PMID:
29743396
6.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N.

Ann Neurol. 2018 May 8. doi: 10.1002/ana.25256. [Epub ahead of print] No abstract available.

PMID:
29740860
7.

Prospects for observing and localizing gravitational-wave transients with Advanced LIGO, Advanced Virgo and KAGRA.

Abbott BP, Abbott R, Abbott TD, Abernathy MR, Acernese F, Ackley K, Adams C, Adams T, Addesso P, Adhikari RX, Adya VB, Affeldt C, Agathos M, Agatsuma K, Aggarwal N, Aguiar OD, Aiello L, Ain A, Ajith P, Akutsu T, Allen B, Allocca A, Altin PA, Ananyeva A, Anderson SB, Anderson WG, Ando M, Appert S, Arai K, Araya A, Araya MC, Areeda JS, Arnaud N, Arun KG, Asada H, Ascenzi S, Ashton G, Aso Y, Ast M, Aston SM, Astone P, Atsuta S, Aufmuth P, Aulbert C, Avila-Alvarez A, Awai K, Babak S, Bacon P, Bader MKM, Baiotti L, Baker PT, Baldaccini F, Ballardin G, Ballmer SW, Barayoga JC, Barclay SE, Barish BC, Barker D, Barone F, Barr B, Barsotti L, Barsuglia M, Barta D, Bartlett J, Barton MA, Bartos I, Bassiri R, Basti A, Batch JC, Baune C, Bavigadda V, Bazzan M, Bécsy B, Beer C, Bejger M, Belahcene I, Belgin M, Bell AS, Berger BK, Bergmann G, Berry CPL, Bersanetti D, Bertolini A, Betzwieser J, Bhagwat S, Bhandare R, Bilenko IA, Billingsley G, Billman CR, Birch J, Birney R, Birnholtz O, Biscans S, Bisht A, Bitossi M, Biwer C, Bizouard MA, Blackburn JK, Blackman J, Blair CD, Blair DG, Blair RM, Bloemen S, Bock O, Boer M, Bogaert G, Bohe A, Bondu F, Bonnand R, Boom BA, Bork R, Boschi V, Bose S, Bouffanais Y, Bozzi A, Bradaschia C, Brady PR, Braginsky VB, Branchesi M, Brau JE, Briant T, Brillet A, Brinkmann M, Brisson V, Brockill P, Broida JE, Brooks AF, Brown DA, Brown DD, Brown NM, Brunett S, Buchanan CC, Buikema A, Bulik T, Bulten HJ, Buonanno A, Buskulic D, Buy C, Byer RL, Cabero M, Cadonati L, Cagnoli G, Cahillane C, Calderón Bustillo J, Callister TA, Calloni E, Camp JB, Cannon KC, Cao H, Cao J, Capano CD, Capocasa E, Carbognani F, Caride S, Casanueva Diaz J, Casentini C, Caudill S, Cavaglià M, Cavalier F, Cavalieri R, Cella G, Cepeda CB, Cerboni Baiardi L, Cerretani G, Cesarini E, Chamberlin SJ, Chan M, Chao S, Charlton P, Chassande-Mottin E, Cheeseboro BD, Chen HY, Chen Y, Cheng HP, Chincarini A, Chiummo A, Chmiel T, Cho HS, Cho M, Chow JH, Christensen N, Chu Q, Chua AJK, Chua S, Chung S, Ciani G, Clara F, Clark JA, Cleva F, Cocchieri C, Coccia E, Cohadon PF, Colla A, Collette CG, Cominsky L, Constancio M Jr, Conti L, Cooper SJ, Corbitt TR, Cornish N, Corsi A, Cortese S, Costa CA, Coughlin MW, Coughlin SB, Coulon JP, Countryman ST, Couvares P, Covas PB, Cowan EE, Coward DM, Cowart MJ, Coyne DC, Coyne R, Creighton JDE, Creighton TD, Cripe J, Crowder SG, Cullen TJ, Cumming A, Cunningham L, Cuoco E, Canton TD, Danilishin SL, D'Antonio S, Danzmann K, Dasgupta A, Da Silva Costa CF, Dattilo V, Dave I, Davier M, Davies GS, Davis D, Daw EJ, Day B, Day R, De S, DeBra D, Debreczeni G, Degallaix J, De Laurentis M, Deléglise S, Del Pozzo W, Denker T, Dent T, Dergachev V, De Rosa R, DeRosa RT, DeSalvo R, Devine RC, Dhurandhar S, Díaz MC, Fiore LD, Giovanni MD, Girolamo TD, Lieto AD, Pace SD, Palma ID, Virgilio AD, Doctor Z, Doi K, Dolique V, Donovan F, Dooley KL, Doravari S, Dorrington I, Douglas R, Dovale Álvarez M, Downes TP, Drago M, Drever RWP, Driggers JC, Du Z, Ducrot M, Dwyer SE, Eda K, Edo TB, Edwards MC, Effler A, Eggenstein HB, Ehrens P, Eichholz J, Eikenberry SS, Eisenstein RA, Essick RC, Etienne Z, Etzel T, Evans M, Evans TM, Everett R, Factourovich M, Fafone V, Fair H, Fairhurst S, Fan X, Farinon S, Farr B, Farr WM, Fauchon-Jones EJ, Favata M, Fays M, Fehrmann H, Fejer MM, Fernández Galiana A, Ferrante I, Ferreira EC, Ferrini F, Fidecaro F, Fiori I, Fiorucci D, Fisher RP, Flaminio R, Fletcher M, Fong H, Forsyth SS, Fournier JD, Frasca S, Frasconi F, Frei Z, Freise A, Frey R, Frey V, Fries EM, Fritschel P, Frolov VV, Fujii Y, Fujimoto MK, Fulda P, Fyffe M, Gabbard H, Gadre BU, Gaebel SM, Gair JR, Gammaitoni L, Gaonkar SG, Garufi F, Gaur G, Gayathri V, Gehrels N, Gemme G, Genin E, Gennai A, George J, Gergely L, Germain V, Ghonge S, Ghosh A, Ghosh A, Ghosh S, Giaime JA, Giardina KD, Giazotto A, Gill K, Glaefke A, Goetz E, Goetz R, Gondan L, González G, Gonzalez Castro JM, Gopakumar A, Gorodetsky ML, Gossan SE, Gosselin M, Gouaty R, Grado A, Graef C, Granata M, Grant A, Gras S, Gray C, Greco G, Green AC, Groot P, Grote H, Grunewald S, Guidi GM, Guo X, Gupta A, Gupta MK, Gushwa KE, Gustafson EK, Gustafson R, Hacker JJ, Hagiwara A, Hall BR, Hall ED, Hammond G, Haney M, Hanke MM, Hanks J, Hanna C, Hannam MD, Hanson J, Hardwick T, Harms J, Harry GM, Harry IW, Hart MJ, Hartman MT, Haster CJ, Haughian K, Hayama K, Healy J, Heidmann A, Heintze MC, Heitmann H, Hello P, Hemming G, Hendry M, Heng IS, Hennig J, Henry J, Heptonstall AW, Heurs M, Hild S, Hirose E, Hoak D, Hofman D, Holt K, Holz DE, Hopkins P, Hough J, Houston EA, Howell EJ, Hu YM, Huerta EA, Huet D, Hughey B, Husa S, Huttner SH, Huynh-Dinh T, Indik N, Ingram DR, Inta R, Ioka K, Isa HN, Isac JM, Isi M, Isogai T, Itoh Y, Iyer BR, Izumi K, Jacqmin T, Jani K, Jaranowski P, Jawahar S, Jiménez-Forteza F, Johnson WW, Jones DI, Jones R, Jonker RJG, Ju L, Junker J, Kagawa T, Kajita T, Kakizaki M, Kalaghatgi CV, Kalogera V, Kamiizumi M, Kanda N, Kandhasamy S, Kanemura S, Kaneyama M, Kang G, Kanner JB, Karki S, Karvinen KS, Kasprzack M, Kataoka Y, Katsavounidis E, Katzman W, Kaufer S, Kaur T, Kawabe K, Kawai N, Kawamura S, Kéfélian F, Keitel D, Kelley DB, Kennedy R, Key JS, Khalili FY, Khan I, Khan S, Khan Z, Khazanov EA, Kijbunchoo N, Kim C, Kim H, Kim JC, Kim J, Kim W, Kim YM, Kimbrell SJ, Kimura N, King EJ, King PJ, Kirchhoff R, Kissel JS, Klein B, Kleybolte L, Klimenko S, Koch P, Koehlenbeck SM, Kojima Y, Kokeyama K, Koley S, Komori K, Kondrashov V, Kontos A, Korobko M, Korth WZ, Kotake K, Kowalska I, Kozak DB, Krämer C, Kringel V, Krishnan B, Królak A, Kuehn G, Kumar P, Kumar R, Kumar R, Kuo L, Kuroda K, Kutynia A, Kuwahara Y, Lackey BD, Landry M, Lang RN, Lange J, Lantz B, Lanza RK, Lartaux-Vollard A, Lasky PD, Laxen M, Lazzarini A, Lazzaro C, Leaci P, Leavey S, Lebigot EO, Lee CH, Lee HK, Lee HM, Lee HW, Lee K, Lehmann J, Lenon A, Leonardi M, Leong JR, Leroy N, Letendre N, Levin Y, Li TGF, Libson A, Littenberg TB, Liu J, Lockerbie NA, Lombardi AL, London LT, Lord JE, Lorenzini M, Loriette V, Lormand M, Losurdo G, Lough JD, Lousto CO, Lovelace G, Lück H, Lundgren AP, Lynch R, Ma Y, Macfoy S, Machenschalk B, MacInnis M, Macleod DM, Magaña-Sandoval F, Majorana E, Maksimovic I, Malvezzi V, Man N, Mandic V, Mangano V, Mano S, Mansell GL, Manske M, Mantovani M, Marchesoni F, Marchio M, Marion F, Márka S, Márka Z, Markosyan AS, Maros E, Martelli F, Martellini L, Martin IW, Martynov DV, Mason K, Masserot A, Massinger TJ, Masso-Reid M, Mastrogiovanni S, Matichard F, Matone L, Matsumoto N, Matsushima F, Mavalvala N, Mazumder N, McCarthy R, McClelland DE, McCormick S, McGrath C, McGuire SC, McIntyre G, McIver J, McManus DJ, McRae T, McWilliams ST, Meacher D, Meadors GD, Meidam J, Melatos A, Mendell G, Mendoza-Gandara D, Mercer RA, Merilh EL, Merzougui M, Meshkov S, Messenger C, Messick C, Metzdorff R, Meyers PM, Mezzani F, Miao H, Michel C, Michimura Y, Middleton H, Mikhailov EE, Milano L, Miller AL, Miller A, Miller BB, Miller J, Millhouse M, Minenkov Y, Ming J, Mirshekari S, Mishra C, Mitrofanov VP, Mitselmakher G, Mittleman R, Miyakawa O, Miyamoto A, Miyamoto T, Miyoki S, Moggi A, Mohan M, Mohapatra SRP, Montani M, Moore BC, Moore CJ, Moraru D, Moreno G, Morii W, Morisaki S, Moriwaki Y, Morriss SR, Mours B, Mow-Lowry CM, Mueller G, Muir AW, Mukherjee A, Mukherjee D, Mukherjee S, Mukund N, Mullavey A, Munch J, Muniz EAM, Murray PG, Mytidis A, Nagano S, Nakamura K, Nakamura T, Nakano H, Nakano M, Nakano M, Nakao K, Napier K, Nardecchia I, Narikawa T, Naticchioni L, Nelemans G, Nelson TJN, Neri M, Nery M, Neunzert A, Newport JM, Newton G, Nguyen TT, Ni WT, Nielsen AB, Nissanke S, Nitz A, Noack A, Nocera F, Nolting D, Normandin MEN, Nuttall LK, Oberling J, Ochsner E, Oelker E, Ogin GH, Oh JJ, Oh SH, Ohashi M, Ohishi N, Ohkawa M, Ohme F, Okutomi K, Oliver M, Ono K, Ono Y, Oohara K, Oppermann P, Oram RJ, O'Reilly B, O'Shaughnessy R, Ottaway DJ, Overmier H, Owen BJ, Pace AE, Page J, Pai A, Pai SA, Palamos JR, Palashov O, Palomba C, Pal-Singh A, Pan H, Pankow C, Pannarale F, Pant BC, Paoletti F, Paoli A, Papa MA, Paris HR, Parker W, Pascucci D, Pasqualetti A, Passaquieti R, Passuello D, Patricelli B, Pearlstone BL, Pedraza M, Pedurand R, Pekowsky L, Pele A, Peña Arellano FE, Penn S, Perez CJ, Perreca A, Perri LM, Pfeiffer HP, Phelps M, Piccinni OJ, Pichot M, Piergiovanni F, Pierro V, Pillant G, Pinard L, Pinto IM, Pitkin M, Poe M, Poggiani R, Popolizio P, Post A, Powell J, Prasad J, Pratt JWW, Predoi V, Prestegard T, Prijatelj M, Principe M, Privitera S, Prodi GA, Prokhorov LG, Puncken O, Punturo M, Puppo P, Pürrer M, Qi H, Qin J, Qiu S, Quetschke V, Quintero EA, Quitzow-James R, Raab FJ, Rabeling DS, Radkins H, Raffai P, Raja S, Rajan C, Rakhmanov M, Rapagnani P, Raymond V, Razzano M, Re V, Read J, Regimbau T, Rei L, Reid S, Reitze DH, Rew H, Reyes SD, Rhoades E, Ricci F, Riles K, Rizzo M, Robertson NA, Robie R, Robinet F, Rocchi A, Rolland L, Rollins JG, Roma VJ, Romano R, Romie JH, Rosińska D, Rowan S, Rüdiger A, Ruggi P, Ryan K, Sachdev S, Sadecki T, Sadeghian L, Sago N, Saijo M, Saito Y, Sakai K, Sakellariadou M, Salconi L, Saleem M, Salemi F, Samajdar A, Sammut L, Sampson LM, Sanchez EJ, Sandberg V, Sanders JR, Sasaki Y, Sassolas B, Sathyaprakash BS, Sato S, Sato T, Saulson PR, Sauter O, Savage RL, Sawadsky A, Schale P, Scheuer J, Schmidt E, Schmidt J, Schmidt P, Schnabel R, Schofield RMS, Schönbeck A, Schreiber E, Schuette D, Schutz BF, Schwalbe SG, Scott J, Scott SM, Sekiguchi T, Sekiguchi Y, Sellers D, Sengupta AS, Sentenac D, Sequino V, Sergeev A, Setyawati Y, Shaddock DA, Shaffer TJ, Shahriar MS, Shapiro B, Shawhan P, Sheperd A, Shibata M, Shikano Y, Shimoda T, Shoda A, Shoemaker DH, Shoemaker DM, Siellez K, Siemens X, Sieniawska M, Sigg D, Silva AD, Singer A, Singer LP, Singh A, Singh R, Singhal A, Sintes AM, Slagmolen BJJ, Smith B, Smith JR, Smith RJE, Somiya K, Son EJ, Sorazu B, Sorrentino F, Souradeep T, Spencer AP, Srivastava AK, Staley A, Steinke M, Steinlechner J, Steinlechner S, Steinmeyer D, Stephens BC, Stevenson SP, Stone R, Strain KA, Straniero N, Stratta G, Strigin SE, Sturani R, Stuver AL, Sugimoto Y, Summerscales TZ, Sun L, Sunil S, Sutton PJ, Suzuki T, Swinkels BL, Szczepańczyk MJ, Tacca M, Tagoshi H, Takada S, Takahashi H, Takahashi R, Takamori A, Talukder D, Tanaka H, Tanaka K, Tanaka T, Tanner DB, Tápai M, Taracchini A, Tatsumi D, Taylor R, Telada S, Theeg T, Thomas EG, Thomas M, Thomas P, Thorne KA, Thrane E, Tippens T, Tiwari S, Tiwari V, Tokmakov KV, Toland K, Tomaru T, Tomlinson C, Tonelli M, Tornasi Z, Torrie CI, Töyrä D, Travasso F, Traylor G, Trifirò D, Trinastic J, Tringali MC, Trozzo L, Tse M, Tso R, Tsubono K, Tsuzuki T, Turconi M, Tuyenbayev D, Uchiyama T, Uehara T, Ueki S, Ueno K, Ugolini D, Unnikrishnan CS, Urban AL, Ushiba T, Usman SA, Vahlbruch H, Vajente G, Valdes G, van Bakel N, van Beuzekom M, van den Brand JFJ, Van Den Broeck C, Vander-Hyde DC, van der Schaaf L, van Heijningen JV, van Putten MHPM, van Veggel AA, Vardaro M, Varma V, Vass S, Vasúth M, Vecchio A, Vedovato G, Veitch J, Veitch PJ, Venkateswara K, Venugopalan G, Verkindt D, Vetrano F, Viceré A, Viets AD, Vinciguerra S, Vine DJ, Vinet JY, Vitale S, Vo T, Vocca H, Vorvick C, Voss DV, Vousden WD, Vyatchanin SP, Wade AR, Wade LE, Wade M, Wakamatsu T, Walker M, Wallace L, Walsh S, Wang G, Wang H, Wang M, Wang Y, Ward RL, Warner J, Was M, Watchi J, Weaver B, Wei LW, Weinert M, Weinstein AJ, Weiss R, Wen L, Weßels P, Westphal T, Wette K, Whelan JT, Whiting BF, Whittle C, Williams D, Williams RD, Williamson AR, Willis JL, Willke B, Wimmer MH, Winkler W, Wipf CC, Wittel H, Woan G, Woehler J, Worden J, Wright JL, Wu DS, Wu G, Yam W, Yamamoto H, Yamamoto K, Yamamoto T, Yancey CC, Yano K, Yap MJ, Yokoyama J, Yokozawa T, Yoon TH, Yu H, Yu H, Yuzurihara H, Yvert M, Zadrożny A, Zangrando L, Zanolin M, Zeidler S, Zendri JP, Zevin M, Zhang L, Zhang M, Zhang T, Zhang Y, Zhao C, Zhou M, Zhou Z, Zhu SJ, Zhu XJ, Zucker ME, Zweizig J; KAGRA Collaboration, LIGO Scientific Collaboration and Virgo Collaboration.

Living Rev Relativ. 2018;21(1):3. doi: 10.1007/s41114-018-0012-9. Epub 2018 Apr 26. Review.

8.

Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency.

Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H.

Int J Hematol. 2018 Apr 30. doi: 10.1007/s12185-018-2462-y. [Epub ahead of print]

PMID:
29713955
9.

Essential Role of the a3 Isoform of V-ATPase in Secretory Lysosome Trafficking via Rab7 Recruitment.

Matsumoto N, Sekiya M, Tohyama K, Ishiyama-Matsuura E, Sun-Wada GH, Wada Y, Futai M, Nakanishi-Matsui M.

Sci Rep. 2018 Apr 30;8(1):6701. doi: 10.1038/s41598-018-24918-7.

10.

Testicular regulation of seasonal change in apocrine glands in the back skin of the brown bear (Ursus arctos).

Tomiyasu J, Kondoh D, Yanagawa Y, Sato Y, Sakamoto H, Matsumoto N, Sasaki K, Haneda S, Matsui M.

J Vet Med Sci. 2018 May 1. doi: 10.1292/jvms.17-0689. [Epub ahead of print]

11.

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.

Kunii M, Doi H, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F.

Clin Genet. 2018 Apr 26. doi: 10.1111/cge.13371. [Epub ahead of print]

PMID:
29700822
12.

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.

Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.

Brain Dev. 2018 Apr 23. pii: S0387-7604(18)30135-9. doi: 10.1016/j.braindev.2018.04.002. [Epub ahead of print]

PMID:
29699863
13.

Usefulness of Fecoflowgram for Assessment of Defecation after Intersphincteric Resection.

Kawahara H, Mouri T, Ishida K, Matsumoto N, Akiba T, Yanaga K.

Digestion. 2018 Apr 26;98(2):81-86. doi: 10.1159/000487507. [Epub ahead of print]

PMID:
29698951
14.

A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.

Yahikozawa H, Miyatake S, Sakai T, Uehara T, Yamada M, Hanyu N, Futatsugi Y, Doi H, Koyano S, Tanaka F, Suzuki A, Matsumoto N, Yoshida K.

Cerebellum. 2018 Apr 23. doi: 10.1007/s12311-018-0941-6. [Epub ahead of print]

PMID:
29687291
15.

Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.

Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.

Brain Dev. 2018 Apr 17. pii: S0387-7604(18)30108-6. doi: 10.1016/j.braindev.2018.03.012. [Epub ahead of print]

PMID:
29678278
16.

Prognostic Relevance of Liver Stiffness Assessed by Transient Elastography in Patients With Acute Decompensated Heart Failure.

Saito Y, Kato M, Nagashima K, Monno K, Aizawa Y, Okumura Y, Matsumoto N, Moriyama M, Hirayama A.

Circ J. 2018 Apr 17. doi: 10.1253/circj.CJ-17-1344. [Epub ahead of print]

17.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R.

Brain. 2018 Apr 13. doi: 10.1093/brain/awy092. [Epub ahead of print]

PMID:
29668857
18.

Visualization of Thalamocortical Axon Branching and Synapse Formation in Organotypic Cocultures.

Matsumoto N, Yamamoto N.

J Vis Exp. 2018 Mar 28;(133). doi: 10.3791/56553.

PMID:
29658913
19.

Epigallocatechin Gallate-Modified Gelatin Sponges Treated by Vacuum Heating as a Novel Scaffold for Bone Tissue Engineering.

Honda Y, Takeda Y, Li P, Huang A, Sasayama S, Hara E, Uemura N, Ueda M, Hashimoto M, Arita K, Matsumoto N, Hashimoto Y, Baba S, Tanaka T.

Molecules. 2018 Apr 11;23(4). pii: E876. doi: 10.3390/molecules23040876.

20.

Distribution and Morphological Features of Microglia in the Developing Cerebral Cortex of Gyrencephalic Mammals.

Mizuguchi K, Horiike T, Matsumoto N, Ichikawa Y, Shinmyo Y, Kawasaki H.

Neurochem Res. 2018 May;43(5):1075-1085. doi: 10.1007/s11064-018-2520-0. Epub 2018 Apr 3.

PMID:
29616442
21.

Usefulness of TAS-102 as Third-line Chemotherapy for Metastatic Colorectal Cancer.

Kawahara H, Mouri T, Ishida K, Matsumoto N, Akiba T, Yanaga K.

Anticancer Res. 2018 Apr;38(4):2419-2422.

PMID:
29599371
22.

Detection of EGFR Gene Mutation by Mutation-oriented LAMP Method.

Matsumoto N, Kumasaka A, Ando T, Komiyama K.

Anticancer Res. 2018 Apr;38(4):2093-2099.

PMID:
29599327
23.

Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.

Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.

Mol Genet Metab. 2018 May;124(1):64-70. doi: 10.1016/j.ymgme.2018.03.007. Epub 2018 Mar 19.

PMID:
29599076
24.

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.

Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S.

Epilepsia Open. 2017 Nov 23;3(1):81-85. doi: 10.1002/epi4.12085. eCollection 2018 Mar.

25.

A message for 2018.

Matsumoto N.

J Hum Genet. 2018 Apr;63(4):393-396. doi: 10.1038/s10038-018-0417-z. Epub 2018 Mar 26. No abstract available.

PMID:
29576626
26.

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.

Vögtle FN, Brändl B, Larson A, Pendziwiat M, Friederich MW, White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, Walsh M, Yu HC, Shinde DN, Stephani U, Van Hove JLK, Müller FJ, Helbig I.

Am J Hum Genet. 2018 Apr 5;102(4):557-573. doi: 10.1016/j.ajhg.2018.02.014. Epub 2018 Mar 22.

PMID:
29576218
27.

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S.

J Hum Genet. 2018 Mar 22. doi: 10.1038/s10038-018-0447-6. [Epub ahead of print]

PMID:
29568001
28.

Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation.

Matsumoto N, Kaneko M, Watanabe N, Itaoka M, Seki Y, Morimoto T, Torii T, Miyamoto Y, Keiichi Homma, Yamauchi J.

Biochem Biophys Res Commun. 2018 Apr 30;499(1):78-85. doi: 10.1016/j.bbrc.2018.03.136. Epub 2018 Mar 21.

PMID:
29567474
29.

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H.

Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar.

30.

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K.

J Hum Genet. 2018 Mar 19. doi: 10.1038/s10038-018-0432-0. [Epub ahead of print]

PMID:
29556033
31.

A Single-Nucleotide Insertion in a Drug Transporter Gene Induces a Thermotolerance Phenotype in Gluconobacter frateurii by Increasing the NADPH/NADP+ Ratio via Metabolic Change.

Matsumoto N, Hattori H, Matsutani M, Matayoshi C, Toyama H, Kataoka N, Yakushi T, Matsushita K.

Appl Environ Microbiol. 2018 May 1;84(10). pii: e00354-18. doi: 10.1128/AEM.00354-18. Print 2018 May 15.

PMID:
29549098
32.

A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl.

Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T.

Brain Dev. 2018 Jun;40(6):493-497. doi: 10.1016/j.braindev.2018.02.002. Epub 2018 Mar 12.

PMID:
29544889
33.

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N.

Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208.

PMID:
29534297
34.

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Sakaguchi T, Žigman T, Petković Ramadža D, Omerza L, Pušeljić S, Ereš Hrvaćanin Z, Miyake N, Matsumoto N, Barić I.

Hum Genome Var. 2018 Mar 8;5:18005. doi: 10.1038/hgv.2018.5. eCollection 2018.

35.

De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.

Saikusa T, Hara M, Iwama K, Yuge K, Ohba C, Okada JI, Hisano T, Yamashita Y, Okamoto N, Saitsu H, Matsumoto N, Matsuishi T.

Brain Dev. 2018 May;40(5):406-409. doi: 10.1016/j.braindev.2017.12.013. Epub 2018 Mar 5.

PMID:
29519750
36.

Why do People Overthink? A Longitudinal Investigation of a Meta-Cognitive Model and Uncontrollability of Rumination.

Matsumoto N, Mochizuki S.

Behav Cogn Psychother. 2018 Mar 7:1-6. doi: 10.1017/S1352465818000103. [Epub ahead of print]

PMID:
29510773
37.

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S.

Eur J Med Genet. 2018 Mar 3. pii: S1769-7212(17)30774-7. doi: 10.1016/j.ejmg.2018.03.003. [Epub ahead of print]

PMID:
29510241
38.

Efficacy of ledipasvir/sofosbuvir with or without ribavirin for 12 weeks in genotype 1b HCV patients previously treated with a nonstructural protein 5A inhibitor-containing regimen.

Ikeda H, Watanabe T, Shimizu H, Hiraishi T, Kaneko R, Baba T, Takahashi H, Matsunaga K, Matsumoto N, Yasuda H, Okuse C, Iwabuchi S, Suzuki M, Itoh F.

Hepatol Res. 2018 Mar 5. doi: 10.1111/hepr.13074. [Epub ahead of print]

PMID:
29504692
39.

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A.

J Hum Genet. 2018 May;63(5):673-676. doi: 10.1038/s10038-018-0421-3. Epub 2018 Feb 28.

PMID:
29491473
40.

A Case of Portal-Systemic Encephalopathy due to Complicated Spleno-renal Shunt Successfully Treated with Balloon-occluded Retrograde Transvenous Obliteration Using a Double Coaxial Balloon Catheter System and Shape-memory Coils.

Matsuoka S, Yamana Y, Ishii T, Kumagawa M, Mizutani T, Kamimura S, Matsumoto N, Nakamura H, Nirei K, Tatsuo K, Moriyama M.

Intern Med. 2018 Feb 28. doi: 10.2169/internalmedicine.0247-17. [Epub ahead of print]

41.

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.

Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S.

J Pediatr Hematol Oncol. 2018 Feb 27. doi: 10.1097/MPH.0000000000001111. [Epub ahead of print]

PMID:
29489735
42.

The second point mutation in PREPL: a case report and literature review.

Silva S, Miyake N, Tapia C, Matsumoto N.

J Hum Genet. 2018 May;63(5):677-681. doi: 10.1038/s10038-018-0426-y. Epub 2018 Feb 26.

PMID:
29483676
43.

Detection and phylogenetic analysis of phlebovirus, including severe fever with thrombocytopenia syndrome virus, in ticks collected from Tokyo, Japan.

Matsumoto N, Masuoka H, Hirayama K, Yamada A, Hotta K.

J Vet Med Sci. 2018 Apr 18;80(4):638-641. doi: 10.1292/jvms.17-0604. Epub 2018 Feb 26.

44.

Safety and efficacy of nivolumab in Japanese patients with malignant melanoma: An interim analysis of a postmarketing surveillance.

Kiyohara Y, Uhara H, Ito Y, Matsumoto N, Tsuchida T, Yamazaki N.

J Dermatol. 2018 Apr;45(4):408-415. doi: 10.1111/1346-8138.14227. Epub 2018 Feb 20.

PMID:
29464755
45.

Ligand-Dependent Corepressor (LCoR) Is a Rexinoid-Inhibited Peroxisome Proliferator-Activated Receptor γ-Retinoid X Receptor α Coactivator.

Shalom-Barak T, Liersemann J, Memari B, Flechner L, Devor CE, Bernardo TM, Kim S, Matsumoto N, Friedman SL, Evans RM, White JH, Barak Y.

Mol Cell Biol. 2018 Apr 16;38(9). pii: e00107-17. doi: 10.1128/MCB.00107-17. Print 2018 May 1.

PMID:
29463649
46.

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.

Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T.

Am J Hum Genet. 2018 Mar 1;102(3):480-486. doi: 10.1016/j.ajhg.2018.01.019. Epub 2018 Feb 15.

PMID:
29455859
47.

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.

Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N.

J Hum Genet. 2018 Apr;63(4):425-430. doi: 10.1038/s10038-018-0410-6. Epub 2018 Feb 13.

PMID:
29440706
48.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N.

Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.

PMID:
29432562
49.

Malignant mesothelioma with squamous differentiation.

Tanaka H, Akiyama Y, Kitamura A, Matsumoto N, Tomita M, Kataoka H.

Histopathology. 2018 Jun;72(7):1216-1220. doi: 10.1111/his.13482. Epub 2018 Mar 30.

PMID:
29430704
50.

The EXPAND study: Efficacy and safety of rivaroxaban in Japanese patients with non-valvular atrial fibrillation.

Shimokawa H, Yamashita T, Uchiyama S, Kitazono T, Shimizu W, Ikeda T, Kamouchi M, Kaikita K, Fukuda K, Origasa H, Sakuma I, Saku K, Okumura Y, Nakamura Y, Morimoto H, Matsumoto N, Tsuchida A, Ako J, Sugishita N, Shimizu S, Atarashi H, Inoue H.

Int J Cardiol. 2018 May 1;258:126-132. doi: 10.1016/j.ijcard.2018.01.141. Epub 2018 Feb 3.

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