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Items: 1 to 50 of 438

1.

GGC repeat expansion of NOTCH2NLC in adult patients with leukoencephalopathy.

Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F.

Ann Neurol. 2019 Aug 21. doi: 10.1002/ana.25586. [Epub ahead of print]

PMID:
31433517
2.

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing.

Alkanaq AN, Hamanaka K, Sekiguchi F, Taguri M, Takata A, Miyake N, Miyatake S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2019 Aug 13. doi: 10.1038/s10038-019-0654-9. [Epub ahead of print]

PMID:
31409854
3.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N.

J Hum Genet. 2019 Oct;64(10):967-978. doi: 10.1038/s10038-019-0643-z. Epub 2019 Jul 23.

PMID:
31337854
4.

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.

Hirasawa-Inoue A, Ishiyama A, Takeshita E, Shimizu-Motohashi Y, Saito T, Komaki H, Nakagawa E, Yuasa S, Saitsu H, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.

Brain Dev. 2019 Jul 6. pii: S0387-7604(19)30032-4. doi: 10.1016/j.braindev.2019.06.006. [Epub ahead of print]

PMID:
31288946
5.

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N.

J Hum Genet. 2019 Sep;64(9):885-890. doi: 10.1038/s10038-019-0626-0. Epub 2019 Jul 4.

PMID:
31270375
6.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM.

Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27.

PMID:
31256876
7.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.

Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F.

Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20.

PMID:
31229688
8.

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant.

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N.

J Hum Genet. 2019 Sep;64(9):955-960. doi: 10.1038/s10038-019-0631-3. Epub 2019 Jun 18.

PMID:
31213653
9.

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N.

Neurology. 2019 Jul 16;93(3):e237-e251. doi: 10.1212/WNL.0000000000007774. Epub 2019 Jun 13.

PMID:
31197031
10.

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy.

Oguni H, Nishikawa A, Sato Y, Otani Y, Ito S, Nagata S, Kato M, Hamanaka K, Miyatake S, Matsumoto N.

Epilepsy Res. 2019 Sep;155:106149. doi: 10.1016/j.eplepsyres.2019.06.001. Epub 2019 Jun 3.

PMID:
31185419
11.

Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation.

Ishikawa N, Tateishi Y, Tani H, Kobayashi Y, Itai T, Miyatake S, Kato M, Matsumoto N, Kobayashi M.

Seizure. 2019 May 29;71:20-23. doi: 10.1016/j.seizure.2019.05.024. [Epub ahead of print]

PMID:
31176277
12.

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N.

Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9.

13.

Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.

Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N.

Arthritis Res Ther. 2019 Jun 4;21(1):137. doi: 10.1186/s13075-019-1928-5.

14.

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N.

J Hum Genet. 2019 Aug;64(8):821-827. doi: 10.1038/s10038-019-0617-1. Epub 2019 May 20.

PMID:
31110234
15.

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A.

Neurol Genet. 2019 Mar 25;5(2):e319. doi: 10.1212/NXG.0000000000000319. eCollection 2019 Apr. No abstract available.

16.

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation.

Watanabe J, Okamoto K, Ohashi T, Natsumeda M, Hasegawa H, Oishi M, Miyatake S, Matsumoto N, Fujii Y.

World Neurosurg. 2019 Jul;127:446-450. doi: 10.1016/j.wneu.2019.04.156. Epub 2019 Apr 25.

PMID:
31029817
17.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N.

Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066.

PMID:
30985895
18.

A Japanese patient with RAD51-associated Fanconi anemia.

Takenaka S, Kuroda Y, Ohta S, Mizuno Y, Hiwatari M, Miyatake S, Matsumoto N, Oka A.

Am J Med Genet A. 2019 Jun;179(6):900-902. doi: 10.1002/ajmg.a.61130. Epub 2019 Mar 25.

PMID:
30907510
19.

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N.

Genome Biol. 2019 Mar 19;20(1):58. doi: 10.1186/s13059-019-1667-6.

20.

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
21.

Scavenger Receptor Class A1 Mediates Uptake of Morpholino Antisense Oligonucleotide into Dystrophic Skeletal Muscle.

Miyatake S, Mizobe Y, Tsoumpra MK, Lim KRQ, Hara Y, Shabanpoor F, Yokota T, Takeda S, Aoki Y.

Mol Ther Nucleic Acids. 2019 Mar 1;14:520-535. doi: 10.1016/j.omtn.2019.01.008. Epub 2019 Jan 25.

22.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.

Mizuguchi T, Suzuki T, Abe C, Umemura A, Tokunaga K, Kawai Y, Nakamura M, Nagasaki M, Kinoshita K, Okamura Y, Miyatake S, Miyake N, Matsumoto N.

J Hum Genet. 2019 May;64(5):359-368. doi: 10.1038/s10038-019-0569-5. Epub 2019 Feb 13.

PMID:
30760880
23.

Radiological diagnosis of brain radiation necrosis after cranial irradiation for brain tumor: a systematic review.

Furuse M, Nonoguchi N, Yamada K, Shiga T, Combes JD, Ikeda N, Kawabata S, Kuroiwa T, Miyatake SI.

Radiat Oncol. 2019 Feb 6;14(1):28. doi: 10.1186/s13014-019-1228-x.

24.

The Persistent Generalized Muscle Contraction in Siblings with Molybdenum Cofactor Deficiency Type A.

Yoshimura A, Kibe T, Hasegawa H, Ichida K, Koshimizu E, Miyatake S, Matsumoto N, Yokochi K.

Neuropediatrics. 2019 Apr;50(2):126-129. doi: 10.1055/s-0039-1677869. Epub 2019 Jan 29.

PMID:
30695801
25.

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS).

Yoshitomi S, Takahashi Y, Imai K, Koshimizu E, Miyatake S, Nakashima M, Saitsu H, Matsumoto N, Kato M, Fujita T, Ishii A, Hirose S, Inoue Y.

Seizure. 2019 Feb;65:118-123. doi: 10.1016/j.seizure.2019.01.009. Epub 2019 Jan 18.

PMID:
30684875
26.

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.

Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N.

J Hum Genet. 2019 Apr;64(4):347-350. doi: 10.1038/s10038-018-0556-2. Epub 2019 Jan 9.

PMID:
30626896
27.

SOFT syndrome in a patient from Chile.

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N.

Am J Med Genet A. 2019 Mar;179(3):338-340. doi: 10.1002/ajmg.a.61015. Epub 2018 Dec 20.

PMID:
30569574
28.

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

Mizuguchi T, Toyota T, Adachi H, Miyake N, Matsumoto N, Miyatake S.

J Hum Genet. 2019 Mar;64(3):191-197. doi: 10.1038/s10038-018-0551-7. Epub 2018 Dec 17.

PMID:
30559482
29.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.

Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N.

Eur J Hum Genet. 2019 Mar;27(3):378-383. doi: 10.1038/s41431-018-0289-x. Epub 2018 Nov 28.

PMID:
30487643
30.

Folate receptor-targeted novel boron compound for boron neutron capture therapy on F98 glioma-bearing rats.

Kanemitsu T, Kawabata S, Fukumura M, Futamura G, Hiramatsu R, Nonoguchi N, Nakagawa F, Takata T, Tanaka H, Suzuki M, Masunaga SI, Ono K, Miyatake SI, Nakamura H, Kuroiwa T.

Radiat Environ Biophys. 2019 Mar;58(1):59-67. doi: 10.1007/s00411-018-0765-2. Epub 2018 Nov 24.

PMID:
30474719
31.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.

Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23.

PMID:
30467404
32.

Boron Neutron Capture Therapy Combined with Early Successive Bevacizumab Treatments for Recurrent Malignant Gliomas - A Pilot Study.

Shiba H, Takeuchi K, Hiramatsu R, Furuse M, Nonoguchi N, Kawabata S, Kuroiwa T, Kondo N, Sakurai Y, Suzuki M, Ono K, Oue S, Ishikawa E, Michiue H, Miyatake SI.

Neurol Med Chir (Tokyo). 2018 Dec 15;58(12):487-494. doi: 10.2176/nmc.oa.2018-0111. Epub 2018 Nov 21.

33.

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N.

Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. Erratum in: Ann Neurol. 2019 Mar;85(3):462-463.

PMID:
30427554
34.

Biallelic COLGALT1 variants are associated with cerebral small vessel disease.

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N.

Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30.

PMID:
30412317
35.

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N.

Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454.

PMID:
30280376
36.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Dec;63(12):1223-1229. doi: 10.1038/s10038-018-0516-x. Epub 2018 Sep 27.

PMID:
30258207
37.

Boron Neutron Capture Therapy for High-Grade Skull-Base Meningioma.

Takeuchi K, Kawabata S, Hiramatsu R, Matsushita Y, Tanaka H, Sakurai Y, Suzuki M, Ono K, Miyatake SI, Kuroiwa T.

J Neurol Surg B Skull Base. 2018 Oct;79(Suppl 4):S322-S327. doi: 10.1055/s-0038-1666837. Epub 2018 Jul 3.

PMID:
30210985
38.

Preliminary feasibility study on differential diagnosis between radiation-induced cerebral necrosis and recurrent brain tumor by means of [18F]fluoro-borono-phenylalanine PET/CT.

Beshr R, Isohashi K, Watabe T, Naka S, Horitsugi G, Romanov V, Kato H, Miyatake SI, Shimosegawa E, Hatazawa J.

Ann Nucl Med. 2018 Dec;32(10):702-708. doi: 10.1007/s12149-018-1296-2. Epub 2018 Sep 7.

PMID:
30194665
39.

Exon Skipping Using Antisense Oligonucleotides for Laminin-Alpha2-Deficient Muscular Dystrophy.

Hara Y, Mizobe Y, Miyatake S, Takizawa H, Nagata T, Yokota T, Takeda S, Aoki Y.

Methods Mol Biol. 2018;1828:553-564. doi: 10.1007/978-1-4939-8651-4_36.

PMID:
30171567
40.

In Vivo Evaluation of Single-Exon and Multiexon Skipping in mdx52 Mice.

Mizobe Y, Miyatake S, Takizawa H, Hara Y, Yokota T, Nakamura A, Takeda S, Aoki Y.

Methods Mol Biol. 2018;1828:275-292. doi: 10.1007/978-1-4939-8651-4_17.

PMID:
30171548
41.

A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.

Hoshi M, Koshimizu E, Miyatake S, Matsumoto N, Imamura A.

Brain Dev. 2019 Jan;41(1):101-105. doi: 10.1016/j.braindev.2018.07.011. Epub 2018 Aug 1.

PMID:
30077506
42.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T.

Clin Genet. 2018 Dec;94(6):548-553. doi: 10.1111/cge.13423. Epub 2018 Sep 3.

PMID:
30051457
43.

PEX10-related autosomal recessive cerebellar ataxia with hearing loss.

Kaya Özçora GD, Miyatake S, Matsumoto N, Canpolat M, Erdoğan M, Bayramov R, Kumandaş S.

Acta Neurol Belg. 2018 Jul 19. doi: 10.1007/s13760-018-0987-8. [Epub ahead of print] No abstract available.

PMID:
30022445
44.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PMID:
30019515
45.

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17.

PMID:
30018422
46.

Boron Neutron Capture Therapy of Malignant Gliomas.

Miyatake SI, Kawabata S, Hiramatsu R, Kuroiwa T, Suzuki M, Ono K.

Prog Neurol Surg. 2018;32:48-56. doi: 10.1159/000469679. Epub 2018 Jul 10. Review.

PMID:
29990973
47.

PRUNE1-related disorder: Expanding the clinical spectrum.

Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.

Clin Genet. 2018 Oct;94(3-4):362-367. doi: 10.1111/cge.13385. Epub 2018 Jun 26.

PMID:
29797509
48.

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 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21. No abstract available.

PMID:
29782645
49.

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 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25.

PMID:
29768694
50.

A BTB-ZF protein, ZNF131, is required for early B cell development.

Iguchi T, Miyauchi E, Watanabe S, Masai H, Miyatake S.

Biochem Biophys Res Commun. 2018 Jun 22;501(2):570-575. doi: 10.1016/j.bbrc.2018.05.044.

PMID:
29750959

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