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Items: 1 to 50 of 115

1.

A questionnaire survey on the efficacy of various treatments for dyskinetic cerebral palsy due to preterm bilirubin encephalopathy.

Kitai Y, Hirai S, Okuyama N, Hirotsune M, Nishimoto S, Mizutani S, Okumura A, Kumada S, Arai H.

Brain Dev. 2020 Feb 13. pii: S0387-7604(20)30032-2. doi: 10.1016/j.braindev.2020.01.006. [Epub ahead of print]

PMID:
32063420
2.

Creation of novel large dataset comprising several granulation methods and the prediction of tablet properties from critical material attributes and critical process parameters using regularized linear regression models including interaction terms.

Oishi T, Hayashi Y, Noguchi M, Yano F, Kumada S, Takayama K, Okada K, Onuki Y.

Int J Pharm. 2020 Jan 24;577:119083. doi: 10.1016/j.ijpharm.2020.119083. [Epub ahead of print]

PMID:
31988032
3.

Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.

Hasegawa S, Kumada S, Tanuma N, Tsuji-Hosokawa A, Kashimada A, Mizuno T, Moriyama K, Sugawara Y, Shirai I, Miyata Y, Nishida H, Mashimo H, Hasegawa T, Hosokawa T, Hisakawa H, Uematsu M, Fujine A, Miyata R, Sakuma H, Kashimada K, Imai K, Morio T, Hayashi M, Mizutani S, Takagi M.

Pediatr Neurol. 2019 Nov;100:60-66. doi: 10.1016/j.pediatrneurol.2019.05.006. Epub 2019 May 13.

PMID:
31272782
4.

T2 Relaxation Study to Evaluate the Crystalline State of Indomethacin Containing Solid Dispersions Using Time-Domain NMR.

Okada K, Hirai D, Hayashi Y, Kumada S, Kosugi A, Onuki Y.

Chem Pharm Bull (Tokyo). 2019;67(6):580-586. doi: 10.1248/cpb.c19-00163.

5.

[Ataxia Telangiectasia].

Kumada S.

Brain Nerve. 2019 Apr;71(4):380-382. doi: 10.11477/mf.1416201280. Japanese.

PMID:
30988225
6.

Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N.

J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6.

PMID:
30842224
7.

A Time-Domain NMR Study of the State of Water in Wet Granules with Different Fillers and Its Contribution to the Wet Granulation Process and to the Characteristics of Granules.

Ito T, Okada K, Leong KH, Hirai D, Hayashi Y, Kumada S, Kosugi A, Onuki Y.

Chem Pharm Bull (Tokyo). 2019;67(3):271-276. doi: 10.1248/cpb.c18-00888.

8.

A Novel Approach to Evaluate Amorphous-to-Crystalline Transformation of Active Pharmaceutical Ingredients in Solid Dispersion Using Time-Domain NMR.

Okada K, Hirai D, Hayashi Y, Kumada S, Kosugi A, Onuki Y.

Chem Pharm Bull (Tokyo). 2019;67(3):265-270. doi: 10.1248/cpb.c18-00887.

9.

In silico predictions of tablet density using a quantitative structure-property relationship model.

Hayashi Y, Marumo Y, Takahashi T, Nakano Y, Kosugi A, Kumada S, Hirai D, Takayama K, Onuki Y.

Int J Pharm. 2019 Mar 10;558:351-356. doi: 10.1016/j.ijpharm.2018.12.087. Epub 2019 Jan 12.

PMID:
30641183
10.

Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

Kashimada A, Hasegawa S, Nomura T, Shiraku H, Moriyama K, Suzuki T, Nakajima K, Mizuno T, Imai K, Sugawara Y, Morio T, Kumada S, Takagi M.

Brain Dev. 2019 Feb;41(2):150-157. doi: 10.1016/j.braindev.2018.09.007. Epub 2018 Oct 6.

PMID:
30301590
11.

1H NMR Relaxation Study to Evaluate the Crystalline State of Active Pharmaceutical Ingredients Containing Solid Dosage Forms Using Time Domain NMR.

Okada K, Hirai D, Kumada S, Kosugi A, Hayashi Y, Onuki Y.

J Pharm Sci. 2019 Jan;108(1):451-456. doi: 10.1016/j.xphs.2018.09.023. Epub 2018 Sep 26.

PMID:
30267784
12.

An Investigation into the Quality of Medicines in Yangon, Myanmar.

Islam MR, Yoshida N, Kimura K, Uwatoko C, Rahman MS, Kumada S, Endo J, Ito K, Tanimoto T, Zin T, Tsuboi H.

Pharmacy (Basel). 2018 Aug 30;6(3). pii: E96. doi: 10.3390/pharmacy6030096.

13.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

14.

Resting-State Pallidal-Cortical Oscillatory Couplings in Patients With Predominant Phasic and Tonic Dystonia.

Yokochi F, Kato K, Iwamuro H, Kamiyama T, Kimura K, Yugeta A, Okiyama R, Taniguchi M, Kumada S, Ushiba J.

Front Neurol. 2018 May 31;9:375. doi: 10.3389/fneur.2018.00375. eCollection 2018.

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 Aug;40(7):566-569. doi: 10.1016/j.braindev.2018.03.012. Epub 2018 Apr 17.

PMID:
29678278
16.

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R.

Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5.

PMID:
29653907
17.

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
18.

Modeling of quantitative relationships between physicochemical properties of active pharmaceutical ingredients and tensile strength of tablets using a boosted tree.

Hayashi Y, Oishi T, Shirotori K, Marumo Y, Kosugi A, Kumada S, Hirai D, Takayama K, Onuki Y.

Drug Dev Ind Pharm. 2018 Jul;44(7):1090-1098. doi: 10.1080/03639045.2018.1434195. Epub 2018 Feb 8.

PMID:
29376430
19.

A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.

Miyatake S, Koshimizu E, Shirai I, Kumada S, Nakata Y, Kamemaru A, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Matsumoto N.

Mov Disord. 2018 Jan;33(1):177-179. doi: 10.1002/mds.27219. Epub 2017 Nov 22. No abstract available.

PMID:
29165877
20.

Relationships between response surfaces for tablet characteristics of placebo and API-containing tablets manufactured by direct compression method.

Hayashi Y, Tsuji T, Shirotori K, Oishi T, Kosugi A, Kumada S, Hirai D, Takayama K, Onuki Y.

Int J Pharm. 2017 Oct 30;532(1):82-89. doi: 10.1016/j.ijpharm.2017.08.111. Epub 2017 Aug 30.

PMID:
28859939
21.

Sleep-Related Laryngeal Stridor in Opsoclonus Myoclonus Syndrome.

Mizuno T, Kumada S, Naito R.

Pediatr Neurol. 2017 Dec;77:91. doi: 10.1016/j.pediatrneurol.2017.06.005. Epub 2017 Jun 27. No abstract available.

PMID:
28823798
22.

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.

Clin Genet. 2017 Sep;92(3):274-280. doi: 10.1111/cge.13002. Epub 2017 Apr 19.

PMID:
28244113
23.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N.

Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30.

PMID:
28177126
24.

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Fujita A, Waga C, Hachiya Y, Kurihara E, Kumada S, Takeshita E, Nakagawa E, Inoue K, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Goto YI, Miyake N, Matsumoto N.

Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23.

PMID:
26919706
25.

Correction: Reward-Induced Phasic Dopamine Release in the Monkey Ventral Striatum and Putamen.

Yoshimi K, Kumada S, Weitemier A, Jo T, Inoue M.

PLoS One. 2015 Aug 26;10(8):e0135592. doi: 10.1371/journal.pone.0135592. eCollection 2015. No abstract available.

26.

Reward-Induced Phasic Dopamine Release in the Monkey Ventral Striatum and Putamen.

Yoshimi K, Kumada S, Weitemier A, Jo T, Inoue M.

PLoS One. 2015 Jun 25;10(6):e0130443. doi: 10.1371/journal.pone.0130443. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0135592.

27.

Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

Uchino S, Saitsu H, Kumada S, Nakata Y, Matsumoto N.

Mov Disord Clin Pract. 2015 Mar 30;2(2):190-191. doi: 10.1002/mdc3.12158. eCollection 2015 Jun. No abstract available.

28.

Organ-level analysis of idioblast patterning in Egeria densa Planch. leaves.

Hara T, Kobayashi E, Ohtsubo K, Kumada S, Kanazawa M, Abe T, Itoh RD, Fujiwara MT.

PLoS One. 2015 Mar 5;10(3):e0118965. doi: 10.1371/journal.pone.0118965. eCollection 2015.

29.

Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.

Nakayama T, Sato Y, Uematsu M, Takagi M, Hasegawa S, Kumada S, Kikuchi A, Hino-Fukuyo N, Sasahara Y, Haginoya K, Kure S.

Brain Dev. 2015 Mar;37(3):362-5. doi: 10.1016/j.braindev.2014.06.001. Epub 2014 Jun 18.

PMID:
24954719
30.

Rituximab ameliorates anti-N-methyl-D-aspartate receptor encephalitis by removal of short-lived plasmablasts.

Hachiya Y, Uruha A, Kasai-Yoshida E, Shimoda K, Satoh-Shirai I, Kumada S, Kurihara E, Suzuki K, Ohba A, Hamano S, Sakuma H.

J Neuroimmunol. 2013 Dec 15;265(1-2):128-30. doi: 10.1016/j.jneuroim.2013.09.017. Epub 2013 Sep 28.

PMID:
24183642
31.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N.

Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24.

PMID:
23435086
32.

First video report of static encephalopathy of childhood with neurodegeneration in adulthood.

Kasai-Yoshida E, Kumada S, Yagishita A, Shimoda K, Sato-Shirai I, Hachiya Y, Kurihara E.

Mov Disord. 2013 Mar;28(3):397-9. doi: 10.1002/mds.25158. Epub 2013 Feb 6. No abstract available.

PMID:
23390121
33.

Modulation of activity and inhibitor sensitivity of rabbit aldose reductase-like protein (AKR1B19) by oxidized glutathione and SH-reagents.

Endo S, Fujimoto A, Kumada S, Matsunaga T, Ohno S, Mano J, Tajima K, El-Kabbani O, Hara A.

Chem Biol Interact. 2013 Feb 25;202(1-3):146-52. doi: 10.1016/j.cbi.2012.11.026. Epub 2012 Dec 19.

PMID:
23261715
34.

Characterization of rabbit morphine 6-dehydrogenase and two NAD(+)-dependent 3α(17β)-hydroxysteroid dehydrogenases.

Endo S, Matsunaga T, Fujimoto A, Kumada S, Arai Y, Miura Y, Mikamo H, El-Kabbani O, Yamano S, Iinuma M, Hara A.

Arch Biochem Biophys. 2013 Jan 15;529(2):131-9. doi: 10.1016/j.abb.2012.11.013. Epub 2012 Dec 7.

PMID:
23228597
35.

Autoimmune neurological disorders associated with group-A beta-hemolytic streptococcal infection.

Hachiya Y, Miyata R, Tanuma N, Hongou K, Tanaka K, Shimoda K, Kanda S, Hoshino A, Hanafusa Y, Kumada S, Kurihara E, Hayashi M.

Brain Dev. 2013 Aug;35(7):670-4. doi: 10.1016/j.braindev.2012.10.003. Epub 2012 Nov 9.

PMID:
23142103
36.

Characterization of rabbit aldose reductase-like protein with 3β-hydroxysteroid dehydrogenase activity.

Endo S, Matsunaga T, Kumada S, Fujimoto A, Ohno S, El-Kabbani O, Hu D, Toyooka N, Mano J, Tajima K, Hara A.

Arch Biochem Biophys. 2012 Nov 1;527(1):23-30. doi: 10.1016/j.abb.2012.07.012. Epub 2012 Aug 1.

PMID:
22874434
37.

Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.

Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y.

J Neurol. 2012 Nov;259(11):2329-34. doi: 10.1007/s00415-012-6493-7. Epub 2012 Apr 18.

PMID:
22527233
38.

Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).

Miyata R, Tanuma N, Hayashi M, Imamura T, Takanashi J, Nagata R, Okumura A, Kashii H, Tomita S, Kumada S, Kubota M.

Brain Dev. 2012 Feb;34(2):124-7. doi: 10.1016/j.braindev.2011.04.004. Epub 2011 May 14.

PMID:
21576007
39.

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.

Kanazawa K, Kumada S, Kato M, Saitsu H, Kurihara E, Matsumoto N.

Mov Disord. 2010 Oct 15;25(13):2265-7. doi: 10.1002/mds.23164. No abstract available.

PMID:
20721912
40.

Usefulness of anti-cyclic citrullinated peptide antibody and rheumatoid factor to detect rheumatoid arthritis in patients with systemic sclerosis.

Ueda-Hayakawa I, Hasegawa M, Kumada S, Tanaka C, Komura K, Hamaguchi Y, Takehara K, Fujimoto M.

Rheumatology (Oxford). 2010 Nov;49(11):2135-9. doi: 10.1093/rheumatology/keq205. Epub 2010 Jul 27.

PMID:
20663814
41.

Elevated serum placenta growth factor (PlGF) levels in patients with systemic sclerosis: a possible role in the development of skin but not lung fibrosis.

Hamaguchi Y, Hasegawa M, Tanaka C, Kumada S, Sato S, Takehara K, Fujimoto M.

J Dermatol Sci. 2010 Jun;58(3):229-31. doi: 10.1016/j.jdermsci.2010.04.004. Epub 2010 Apr 18. No abstract available.

PMID:
20451352
42.

Autoantibody-mediated regulation of B cell responses by functional anti-CD22 autoantibodies in patients with systemic sclerosis.

Odaka M, Hasegawa M, Hamaguchi Y, Ishiura N, Kumada S, Matsushita T, Komura K, Sato S, Takehara K, Fujimoto M.

Clin Exp Immunol. 2010 Feb;159(2):176-84. doi: 10.1111/j.1365-2249.2009.04059.x. Epub 2009 Nov 16.

43.

[Effects of piracetam therapy in a case of Lance-Adams syndrome].

Hoshino A, Kumada S, Yokochi F, Hachiya Y, Hanafusa Y, Tomita S, Okiyama R, Kurihara E.

No To Hattatsu. 2009 Sep;41(5):357-60. Japanese.

PMID:
19764456
44.

The axonal damage marker tau protein in the cerebrospinal fluid is increased in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.

Tanuma N, Miyata R, Kumada S, Kubota M, Takanashi J, Okumura A, Hamano S, Hayashi M.

Brain Dev. 2010 Jun;32(6):435-9. doi: 10.1016/j.braindev.2009.07.004. Epub 2009 Aug 12.

PMID:
19679415
45.

Adult-onset Stills disease with a cellulitis-like eruption.

Inaoki M, Nishijima C, Kumada S, Kawabata C, Yachie A.

Eur J Dermatol. 2009 Jan-Feb;19(1):80-1. doi: 10.1684/ejd.2008.0554. No abstract available.

PMID:
19171540
46.

Microelectrode findings and topographic reorganisation of kinaesthetic cells after gamma knife thalamotomy.

Terao T, Yokochi F, Taniguchi M, Kawasaki T, Okiyama R, Hamada I, Nishikawa N, Izawa N, Shin M, Kumada S, Takahashi H.

Acta Neurochir (Wien). 2008 Aug;150(8):823-7; discussion 827. doi: 10.1007/s00701-008-1606-x. Epub 2008 Jul 11.

PMID:
18615234
47.

Hemorrhage due to tracheoarterial fistula with severe motor and intellectual disability.

Hamano K, Kumada S, Hayashi M, Uchiyama A, Kurihara E, Tamagawa K, Enomoto S, Chou H.

Pediatr Int. 2008 Jun;50(3):337-40. doi: 10.1111/j.1442-200X.2008.02573.x.

PMID:
18533948
48.

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N.

Nat Genet. 2008 Jun;40(6):782-8. doi: 10.1038/ng.150. Epub 2008 May 11.

PMID:
18469812
49.

Elevated serum APRIL levels in patients with systemic sclerosis: distinct profiles of systemic sclerosis categorized by APRIL and BAFF.

Matsushita T, Fujimoto M, Hasegawa M, Tanaka C, Kumada S, Ogawa F, Takehara K, Sato S.

J Rheumatol. 2007 Oct;34(10):2056-62. Epub 2007 Sep 15.

PMID:
17896803
50.

Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy.

Hayashi M, Kumada S, Shioda K, Fukatsu R.

Brain Dev. 2007 Sep;29(8):473-81. Epub 2007 Feb 20.

PMID:
17307319

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