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Items: 1 to 50 of 347

1.

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
2.

Hepatic resection versus operative microwave ablation for single hepatocellular carcinoma ≤5 cm: A propensity score-matched analysis.

Ryu T, Takami Y, Wada Y, Hara T, Sasaki S, Saitsu H.

Surgery. 2019 Jul 3. pii: S0039-6060(19)30246-6. doi: 10.1016/j.surg.2019.05.007. [Epub ahead of print]

PMID:
31279438
3.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H.

Mol Genet Genomic Med. 2019 Jun 23:e814. doi: 10.1002/mgg3.814. [Epub ahead of print]

4.

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 Jun 20;130:104516. doi: 10.1016/j.nbd.2019.104516. [Epub ahead of print]

PMID:
31229688
5.

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
6.

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.

Yamaura G, Higashiyama Y, Kusama K, Kunii M, Tanaka K, Koyano S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Iwahashi Y, Joki H, Matsumoto N, Doi H, Tanaka F.

Intern Med. 2019 Jun 7. doi: 10.2169/internalmedicine.2126-18. [Epub ahead of print]

7.

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.

8.

Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy.

Fukada M, Yamada K, Eda S, Inoue K, Ohba C, Matsumoto N, Saitsu H, Nakayama A.

Mol Genet Genomic Med. 2019 Jul;7(7):e00698. doi: 10.1002/mgg3.698. Epub 2019 May 20.

9.

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
10.

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T.

J Am Soc Nephrol. 2019 May;30(5):877-889. doi: 10.1681/ASN.2018121268. Epub 2019 Apr 8.

PMID:
30962325
11.

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
12.

A Clinical Scoring System for Predicting Microvascular Invasion in Patients with Hepatocellular Carcinoma Within the Milan Criteria.

Ryu T, Takami Y, Wada Y, Tateishi M, Hara T, Yoshitomi M, Momosaki S, Yasumori K, Saitsu H, Okuda K.

J Gastrointest Surg. 2019 Apr;23(4):779-787. doi: 10.1007/s11605-019-04134-y. Epub 2019 Feb 20.

PMID:
30788712
13.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

Yoshitomi S, Takahashi Y, Yamaguchi T, Oboshi T, Horino A, Ikeda H, Imai K, Okanishi T, Nakashima M, Saitsu H, Matsumoto N, Yoshimoto J, Fujita T, Ishii A, Hirose S, Inoue Y.

Epileptic Disord. 2019 Feb 1;21(1):48-54. doi: 10.1684/epd.2019.1026.

PMID:
30782581
14.

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H.

Brain Dev. 2019 May;41(5):474-479. doi: 10.1016/j.braindev.2019.01.005. Epub 2019 Feb 2.

PMID:
30723005
15.

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
16.

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.

Nakashima M, Negishi Y, Hori I, Hattori A, Saitoh S, Saitsu H.

Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056. Epub 2019 Jan 24.

PMID:
30680869
17.

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.

Nakashima M, Tohyama J, Nakagawa E, Watanabe Y, Siew CG, Kwong CS, Yamoto K, Hiraide T, Fukuda T, Kaname T, Nakabayashi K, Hata K, Ogata T, Saitsu H, Matsumoto N.

J Hum Genet. 2019 Apr;64(4):313-322. doi: 10.1038/s10038-018-0559-z. Epub 2019 Jan 17.

PMID:
30655572
18.

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
19.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.

Shiraku H, Nakashima M, Takeshita S, Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N, Kato M.

Epilepsia Open. 2018 Nov 1;3(4):495-502. doi: 10.1002/epi4.12272. eCollection 2018 Dec.

20.

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
21.

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
22.

GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T.

Clin Case Rep. 2018 Oct 11;6(11):2229-2233. doi: 10.1002/ccr3.1851. eCollection 2018 Nov.

23.

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
24.

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
25.

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
26.

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.

Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI.

Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246.

PMID:
30256902
27.

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.

Takashima S, Saitsu H, Shimozawa N.

J Hum Genet. 2019 Feb;64(2):145-152. doi: 10.1038/s10038-018-0512-1. Epub 2018 Sep 20. Review.

PMID:
30237433
28.

Long-term survival of a patient with recurrent gallbladder carcinoma, treated with chemotherapy, immunotherapy, and surgery: a case report.

Kawamoto M, Wada Y, Koya N, Takami Y, Saitsu H, Ishizaki N, Tabata M, Onishi H, Nakamura M, Morisaki T.

Surg Case Rep. 2018 Sep 15;4(1):115. doi: 10.1186/s40792-018-0512-6.

29.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H.

Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018.

30.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.

Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.

PMID:
29929112
31.

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.

Brain Dev. 2018 Oct;40(9):819-823. doi: 10.1016/j.braindev.2018.05.012. Epub 2018 Jun 12.

PMID:
29907476
32.

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y.

Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z.

33.

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
34.

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
35.

Prognosis of Hepatocellular Carcinoma Patients Who Achieved Long-Term Recurrence-Free Survival After Curative Therapy: Impact of the ALBI Grade.

Matsushima H, Takami Y, Ryu T, Yoshitomi M, Tateishi M, Wada Y, Saitsu H.

J Gastrointest Surg. 2018 Jul;22(7):1230-1238. doi: 10.1007/s11605-018-3745-6. Epub 2018 May 7.

PMID:
29736665
36.

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 Aug;94(2):232-238. doi: 10.1111/cge.13371. Epub 2018 Jun 8.

PMID:
29700822
37.

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 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23.

PMID:
29699863
38.

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 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.

39.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y.

Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17.

PMID:
29666954
40.

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.

41.

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.

42.

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 Jun;63(6):749-753. doi: 10.1038/s10038-018-0432-0. Epub 2018 Mar 19.

PMID:
29556033
43.

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
44.

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
45.

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 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3.

PMID:
29510241
46.

Effect of achieving sustained virological response before hepatitis C virus-related hepatocellular carcinoma occurrence on survival and recurrence after curative surgical microwave ablation.

Ryu T, Takami Y, Wada Y, Tateishi M, Matsushima H, Yoshitomi M, Mikagi K, Saitsu H.

Hepatol Int. 2018 Mar;12(2):149-157. doi: 10.1007/s12072-018-9851-4. Epub 2018 Feb 27.

PMID:
29488056
47.

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
48.

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.

Doi H, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F.

J Hum Genet. 2018 Apr;63(4):417-423. doi: 10.1038/s10038-017-0408-5. Epub 2018 Feb 5.

PMID:
29403087
49.

Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene.

Ono H, Saitsu H, Horikawa R, Nakashima S, Ohkubo Y, Yanagi K, Nakabayashi K, Fukami M, Fujisawa Y, Ogata T.

Sci Rep. 2018 Feb 2;8(1):2287. doi: 10.1038/s41598-018-20691-9.

50.

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

Mutoh H, Kato M, Akita T, Shibata T, Wakamoto H, Ikeda H, Kitaura H, Aoto K, Nakashima M, Wang T, Ohba C, Miyatake S, Miyake N, Kakita A, Miyake K, Fukuda A, Matsumoto N, Saitsu H.

Am J Hum Genet. 2018 Feb 1;102(2):321-329. doi: 10.1016/j.ajhg.2018.01.004. Epub 2018 Jan 27.

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