Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 57

1.

A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.

Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T.

Brain Dev. 2018 Oct;40(9):760-767. doi: 10.1016/j.braindev.2018.05.003. Epub 2018 May 24.

PMID:
29803542
2.

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 Jul;84(1):159-161. doi: 10.1002/ana.25256. Epub 2018 Jul 30. No abstract available.

PMID:
29740860
3.

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2017 Apr;62(5):587. doi: 10.1038/jhg.2017.13. Epub 2017 Feb 16. No abstract available.

PMID:
28202951
4.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.

Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12. Erratum in: J Hum Genet. 2017 Apr;62(5):587.

PMID:
28077841
5.

Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.

Kondo D, Noguchi A, Tamura H, Tsuchida S, Takahashi I, Kubota H, Yano T, Oyama C, Sawaishi Y, Moriwaki S, Takahashi T.

Tohoku J Exp Med. 2016 Jul;239(3):231-5. doi: 10.1620/tjem.239.231.

6.

Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

Torisu H, Yoshikawa Y, Yamaguchi-Takada Y, Yano T, Sanefuji M, Ishizaki Y, Sawaishi Y, Hara T.

Brain Dev. 2013 May;35(5):441-4. doi: 10.1016/j.braindev.2012.06.009. Epub 2012 Jul 20.

PMID:
22818990
7.

GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A.

Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14.

8.

A case of congenital axonal neuropathy associated with West syndrome.

Mizuno T, Sasaki M, Komaki H, Sakuma H, Saito Y, Nakagawa E, Sugai K, Saito Y, Nonaka I, Sawaishi Y.

Brain Dev. 2011 Sep;33(8):692-6. doi: 10.1016/j.braindev.2010.11.009. Epub 2011 Jan 5.

PMID:
21211919
9.

Periventricular calcification added to the phenotypic repertoire of Alexander disease.

Sawaishi Y.

Dev Med Child Neurol. 2010 Dec;52(12):1081-2. doi: 10.1111/j.1469-8749.2010.03818.x. Epub 2010 Oct 21. No abstract available.

10.

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.

Doi H, Koyano S, Miyatake S, Matsumoto N, Kameda T, Tomita A, Miyaji Y, Suzuki Y, Sawaishi Y, Kuroiwa Y.

J Neurol Sci. 2010 Mar 15;290(1-2):172-6. doi: 10.1016/j.jns.2009.11.008. Epub 2009 Dec 14.

PMID:
20006850
11.

Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis.

Muto A, Oguni H, Takahashi Y, Shirasaka Y, Sawaishi Y, Yano T, Hoshida T, Osaka H, Nakasu S, Akasaka N, Sugai K, Miyamoto A, Takahashi S, Suzuki M, Ohmori I, Nabatame S, Osawa M.

Brain Dev. 2010 Jun;32(6):445-53. doi: 10.1016/j.braindev.2009.10.004. Epub 2009 Nov 25.

PMID:
19942389
12.

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.

Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.

13.

Review of Alexander disease: beyond the classical concept of leukodystrophy.

Sawaishi Y.

Brain Dev. 2009 Aug;31(7):493-8. doi: 10.1016/j.braindev.2009.03.006. Epub 2009 Apr 21. Review.

PMID:
19386454
14.

[Symptomatic hypersomnia due to orexin deficiency in hypothalamic lesions].

Kanbayashi T, Arii J, Kubota H, Yano T, Kashiwagi M, Yoshikawa S, Tohyama J, Sawaishi Y.

No To Hattatsu. 2006 Sep;38(5):340-5. Japanese.

PMID:
16986734
15.

TRH therapy in a patient with juvenile Alexander disease.

Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M.

Brain Dev. 2006 Nov;28(10):663-7. Epub 2006 Jun 13.

PMID:
16774812
16.

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K.

J Hum Genet. 2006;51(7):625-8. Epub 2006 Jun 13.

PMID:
16770524
17.

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.

J Hum Genet. 2005;50(7):347-52. Epub 2005 Jul 15.

PMID:
16021330
18.

A hippocampal lesion detected by high-field 3 tesla magnetic resonance imaging in a patient with temporal lobe epilepsy.

Sawaishi Y, Sasaki M, Yano T, Hirayama A, Akabane J, Takada G.

Tohoku J Exp Med. 2005 Mar;205(3):287-91.

19.

CSF hypocretin-1 (orexin-A) levels in childhood narcolepsy and neurologic disorders.

Arii J, Kanbayashi T, Tanabe Y, Sawaishi Y, Kimura S, Watanabe A, Mishima K, Hishikawa Y, Shimizu T, Nishino S.

Neurology. 2004 Dec 28;63(12):2440-2. Review. No abstract available.

PMID:
15623725
20.

Leukoencephalopathy around a tumor cyst following intracystic methotrexate injection.

Yano T, Sawaishi Y, Hirayama A, Takaku I, Takada G.

Pediatr Neurol. 2005 Jan;32(1):68-71.

PMID:
15607610
21.

Pharmacokinetics and effects of ribavirin following intraventricular administration for treatment of subacute sclerosing panencephalitis.

Hosoya M, Mori S, Tomoda A, Mori K, Sawaishi Y, Kimura H, Shigeta S, Suzuki H.

Antimicrob Agents Chemother. 2004 Dec;48(12):4631-5.

22.

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K.

J Neurol Sci. 2004 Oct 15;225(1-2):125-7.

PMID:
15465095
23.

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K.

J Hum Genet. 2004;49(7):376-9. Epub 2004 Jun 12.

PMID:
15197604
24.

Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan.

Tomoda A, Nomura K, Shiraishi S, Hamada A, Ohmura T, Hosoya M, Miike T, Sawaishi Y, Kimura H, Takashima H, Tohda Y, Mori K, Kato Z, Fukushima A, Nishio H, Nezu A, Nihei K.

Brain Dev. 2003 Oct;25(7):514-7.

PMID:
13129596
25.

Acute cerebellitis.

Sawaishi Y, Takada G.

Cerebellum. 2002 Jul;1(3):223-8. Review.

PMID:
12879984
26.

Polyalanine expansion of ARX associated with cryptogenic West syndrome.

Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB.

Neurology. 2003 Jul 22;61(2):267-76. No abstract available.

PMID:
12874418
27.

Choroid plexus carcinoma presented with spinal dysfunction caused by a drop metastasis: a case report.

Sawaishi Y, Yano T, Yoshida Y, Ito Y, Mizoi K, Hirayama A, Takaku I, Takada G.

J Neurooncol. 2003 May;63(1):75-9.

PMID:
12814258
28.

Hypocretin deficiency in niemann-pick type C with cataplexy.

Kanbayashi T, Abe M, Fujimoto S, Miyachi T, Takahashi T, Yano T, Sawaishi Y, Arii J, Szilagyi G, Shimizu T.

Neuropediatrics. 2003 Feb;34(1):52-3. No abstract available.

PMID:
12690569
29.

Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection: retrospective diagnosis by PCR using Guthrie cards.

Haginoya K, Ohura T, Kon K, Yagi T, Sawaishi Y, Ishii KK, Funato T, Higano S, Takahashi S, Iinuma K.

Brain Dev. 2002 Oct;24(7):710-4.

PMID:
12427519
30.

Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.

Sawaishi Y, Yano T, Takaku I, Takada G.

Neurology. 2002 May 28;58(10):1541-3.

PMID:
12034796
31.

[Oral administration of lidocaine jelly to a patient with lidocaine-dependent].

Yano T, Sawaishi Y, Takada G.

No To Hattatsu. 2002 May;34(3):275-6. Japanese. No abstract available.

PMID:
12030019
32.

Fluctuation of computed tomographic findings in white matter in Alexander's disease.

Shiihara T, Kato M, Honma T, Ohtaki S, Sawaishi Y, Hayasaka K.

J Child Neurol. 2002 Mar;17(3):227-30.

PMID:
12026242
33.

Hypocretin-1 (orexin-A) levels in human lumbar CSF in different age groups: infants to elderly persons.

Kanbayashi T, Yano T, Ishiguro H, Kawanishi K, Chiba S, Aizawa R, Sawaishi Y, Hirota K, Nishino S, Shimizu T.

Sleep. 2002 May 1;25(3):337-9.

PMID:
12003164
34.

Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis.

Ichiyama T, Shoji H, Kato M, Sawaishi Y, Ozawa H, Matsubara T, Furukawa S.

Eur J Pediatr. 2002 Mar;161(3):133-7.

PMID:
11998908
35.

Lidocaine-dependent early infantile status epilepticus with highly suppressed EEG.

Sawaishi Y, Yano T, Enoki M, Takada G.

Epilepsia. 2002 Feb;43(2):201-4.

36.

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.

Takahashi T, Takahashi I, Komatsu M, Sawaishi Y, Higashi K, Nishimura G, Saito H, Takada G.

Clin Genet. 2001 Dec;60(6):447-51.

PMID:
11846737
37.

[A case of carbamazepine intoxication with alpha coma and status epilepticus].

Ono A, Yano T, Sawaishi Y, Komatsu K, Takada G.

No To Hattatsu. 2001 Nov;33(6):528-32. Japanese.

PMID:
11725522
38.

Severe pulmonary hypertension in an infant with achondroplasia.

Ito T, Sawaishi Y, Ito Y, Sugawara A.

Lancet. 2001 Sep 29;358(9287):1062. No abstract available.

PMID:
11589938
39.

Immunoliposome-mediated gene transfer into cultured myotubes.

Watanabe Y, Sawaishi Y, Tada H, Sato E, Suzuki T, Takada G.

Tohoku J Exp Med. 2000 Nov;192(3):173-80.

40.

Progressive facial hemiatrophy after epileptic seizures.

Yano T, Sawaishi Y, Toyono M, Takaku I, Takada G.

Pediatr Neurol. 2000 Aug;23(2):164-6.

PMID:
11020643
41.

A case of moyamoya-like vessels combined with brain anomaly.

Kato K, Tomura N, Takahashi S, Hirano H, Watarai J, Sawaishi Y, Takada G.

Radiat Med. 1999 Sep-Oct;17(5):373-7.

PMID:
10593290
42.

Migratory basal ganglia lesions in subacute sclerosing panencephalitis (SSPE): clinical implications of axonal spread.

Sawaishi Y, Yano T, Watanabe Y, Takada G.

J Neurol Sci. 1999 Oct 15;168(2):137-40.

PMID:
10526197
43.

Positron emission tomography in juvenile Alexander disease.

Sawaishi Y, Hatazawa J, Ochi N, Hirono H, Yano T, Watanabe Y, Okudera T, Takada G.

J Neurol Sci. 1999 Jun 1;165(2):116-20.

PMID:
10450795
44.

Enzyme therapy in Gaucher disease type 2: an autopsy case.

Takahashi T, Yoshida Y, Sato W, Yano T, Shoji Y, Sawaishi Y, Sakuma I, Sashi T, Enomoto K, Ida H, Takada G.

Tohoku J Exp Med. 1998 Oct;186(2):143-9.

45.

3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease.

Shoji Y, Takahashi T, Sawaishi Y, Ishida A, Matsumori M, Shoji Y, Enoki M, Watanabe H, Takada G.

J Inherit Metab Dis. 1999 Feb;22(1):1-8.

PMID:
10070612
46.

SSPE following neonatal measles infection.

Sawaishi Y, Abe T, Yano T, Ishikawa K, Takada G.

Pediatr Neurol. 1999 Jan;20(1):63-5.

PMID:
10029264
47.

Acute cerebellitis caused by Coxiella burnetii.

Sawaishi Y, Takahashi I, Hirayama Y, Abe T, Mizutani M, Hirai K, Takada G.

Ann Neurol. 1999 Jan;45(1):124-7.

PMID:
9894886
48.

Childhood multiple sclerosis treated with plasmapheresis.

Takahashi I, Sawaishi Y, Takeda O, Enoki M, Takada G.

Pediatr Neurol. 1997 Jul;17(1):83-7.

PMID:
9308985
49.

Cranial computed tomography scans of premature babies predict their eventual learning disabilities.

Ishida A, Nakajima W, Arai H, Takahashi Y, Iijima R, Sawaishi Y, Goto R, Takada G.

Pediatr Neurol. 1997 May;16(4):319-22.

PMID:
9258966
50.

Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region.

Sawaishi Y, Hayasaka K, Goto A, Kawamura K, Ishiguro S, Sugai K, Nonaka I, Uyemura K, Takada G.

J Neurol Sci. 1995 Dec;134(1-2):150-9.

PMID:
8747859

Supplemental Content

Loading ...
Support Center