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Items: 1 to 50 of 203

1.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

2.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

3.

Effect of ASP6432, a Novel Type 1 Lysophosphatidic Acid Receptor Antagonist, on Urethral Function and Prostate Cell Proliferation.

Sakamoto K, Noguchi Y, Ueshima K, Yamakuni H, Ohtake A, Sato S, Ishizu K, Hosogai N, Kawaminami E, Takeda M, Masuda N.

J Pharmacol Exp Ther. 2018 Aug;366(2):390-396. doi: 10.1124/jpet.118.247908. Epub 2018 Jun 8.

PMID:
29884626
4.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H.

Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104.

5.

Estimation of glycaemic control in the past month using ratio of glycated albumin to HbA1c.

Musha I, Mochizuki M, Kikuchi T, Akatsuka J, Ohtake A, Kobayashi K, Kikuchi N, Kawamura T, Yokota I, Urakami T, Sugihara S, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

Diabet Med. 2018 Jul;35(7):855-861. doi: 10.1111/dme.13640. Epub 2018 May 2.

PMID:
29653463
6.

Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.

Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T.

Brain Dev. 2018 Jun;40(6):498-502. doi: 10.1016/j.braindev.2018.02.007. Epub 2018 Mar 3.

PMID:
29506883
7.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

8.

An infant case of diffuse cerebrospinal lesions and cardiomyopathy caused by a BOLA3 mutation.

Nishioka M, Inaba Y, Motobayashi M, Hara Y, Numata R, Amano Y, Shingu K, Yamamoto Y, Murayama K, Ohtake A, Nakazawa Y.

Brain Dev. 2018 Jun;40(6):484-488. doi: 10.1016/j.braindev.2018.02.004. Epub 2018 Mar 2.

PMID:
29501406
9.

Guidance for Pediatric Familial Hypercholesterolemia 2017.

Harada-Shiba M, Ohta T, Ohtake A, Ogura M, Dobashi K, Nohara A, Yamashita S, Yokote K; Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia.

J Atheroscler Thromb. 2018 Jun 1;25(6):539-553. doi: 10.5551/jat.CR002. Epub 2018 Feb 6.

10.

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.

Asano K, Suzuki T, Saito A, Wei FY, Ikeuchi Y, Numata T, Tanaka R, Yamane Y, Yamamoto T, Goto T, Kishita Y, Murayama K, Ohtake A, Okazaki Y, Tomizawa K, Sakaguchi Y, Suzuki T.

Nucleic Acids Res. 2018 Feb 28;46(4):1565-1583. doi: 10.1093/nar/gky068.

11.

Atomic structure and passivated nature of the Se-treated GaAs(111)B surface.

Ohtake A, Goto S, Nakamura J.

Sci Rep. 2018 Jan 19;8(1):1220. doi: 10.1038/s41598-018-19560-2.

12.

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function.

Lim SC, Tajika M, Shimura M, Carey KT, Stroud DA, Murayama K, Ohtake A, McKenzie M.

Sci Rep. 2018 Jan 9;8(1):153. doi: 10.1038/s41598-017-18530-4.

13.

Barth Syndrome: Different Approaches to Diagnosis.

Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y.

J Pediatr. 2018 Feb;193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15.

PMID:
29249525
14.

Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes.

Okuno M, Ayabe T, Yokota I, Musha I, Shiga K, Kikuchi T, Kikuchi N, Ohtake A, Nakamura A, Nakabayashi K, Okamura K, Momozawa Y, Kubo M, Suzuki J, Urakami T, Kawamura T, Amemiya S, Ogata T, Sugihara S, Fukami M; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

Diabet Med. 2018 Mar;35(3):376-380. doi: 10.1111/dme.13566. Epub 2018 Jan 3.

PMID:
29247561
15.

Efficacy and Safety of Pitavastatin in Children and Adolescents with Familial Hypercholesterolemia in Japan and Europe.

Harada-Shiba M, Kastelein JJP, Hovingh GK, Ray KK, Ohtake A, Arisaka O, Ohta T, Okada T, Suganami H, Wiegman A.

J Atheroscler Thromb. 2018 May 1;25(5):422-429. doi: 10.5551/jat.42242. Epub 2017 Nov 29.

16.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

17.

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.

Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Maruyama S, Noguchi A, Awaya T, Ishige M, Ishige N, Musha I, Ajihara S, Ohtake A, Naito E, Hamada Y, Kono T, Asada T, Sasai H, Fukao T, Fujiki R, Ohara O, Bo R, Yamada K, Kobayashi H, Hasegawa Y, Yamaguchi S, Takayanagi M, Hata I, Shigematsu Y, Kobayashi M.

Mol Genet Metab. 2017 Nov;122(3):67-75. doi: 10.1016/j.ymgme.2017.07.011. Epub 2017 Jul 31.

PMID:
28801073
18.

Reactivation of hyperglycemia-induced hypocretin (HCRT) gene silencing by N-acetyl-d-mannosamine in the orexin neurons derived from human iPS cells.

Hayakawa K, Sakamoto Y, Kanie O, Ohtake A, Daikoku S, Ito Y, Shiota K.

Epigenetics. 2017 Sep;12(9):764-778. doi: 10.1080/15592294.2017.1346775. Epub 2017 Nov 24.

PMID:
28762874
19.

HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing.

Imai-Okazaki A, Kohda M, Kobayashi K, Hirata T, Sakata Y, Murayama K, Ohtake A, Okazaki Y, Nakaya A, Ott J.

Hum Mutat. 2017 Dec;38(12):1796-1800. doi: 10.1002/humu.23298. Epub 2017 Sep 21.

PMID:
28722338
20.

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.

Sato R, Arai-Ichinoi N, Kikuchi A, Matsuhashi T, Numata-Uematsu Y, Uematsu M, Fujii Y, Murayama K, Ohtake A, Abe T, Kure S.

Clin Genet. 2018 Feb;93(2):242-247. doi: 10.1111/cge.13068. Epub 2017 Oct 4.

PMID:
28594066
21.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

22.

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K.

J Inherit Metab Dis. 2017 Sep;40(5):685-693. doi: 10.1007/s10545-017-0042-6. Epub 2017 Apr 20.

23.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.

Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, Miyake N, Mizuguchi T, Ohtake A, Saitsu H, Matsumoto N.

J Hum Genet. 2017 Aug;62(8):741-746. doi: 10.1038/jhg.2017.24. Epub 2017 Mar 2.

24.

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y.

J Hum Genet. 2017 Apr;62(5):539-547. doi: 10.1038/jhg.2016.165. Epub 2017 Jan 26.

PMID:
28123175
25.

A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced.

Sugimoto M, Togawa T, Aiba K, Koyama N, Yokochi K, Murayama K, Ohtake A.

No To Hattatsu. 2017 Jan;49(1):37-41. Japanese.

PMID:
30011153
26.

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.

Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805. Epub 2016 Jun 14. No abstract available.

PMID:
27301544
27.

High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in Japan.

Yamazaki T, Shibuya A, Ishii S, Miura N, Ohtake A, Sasaki N, Araki R, Ota Y, Fujiwara M, Miyajima Y, Uetake K, Hamahata K, Kato K, Kawakami K, Toyoda H, Moriguchi N, Okada M, Nishi M, Ogata Y, Takimoto T, Ohga S, Ohta S, Amemiya S.

Pediatr Int. 2017 Mar;59(3):303-308. doi: 10.1111/ped.13151. Epub 2016 Nov 13.

PMID:
27596055
28.

Preoperative urinary tract obstruction in scoliosis patients.

Suzuki S, Kotani T, Mori K, Kawamura K, Ohtake A.

Pediatr Int. 2017 Jan;59(1):48-52. doi: 10.1111/ped.13115. Epub 2016 Nov 6.

PMID:
27507671
29.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C.

Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14.

30.

Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy.

Imai A, Kishita Y, Nakayama Y, Fujita S, Futatani T, Kohda M, Yatsuka Y, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y.

Int J Cardiol. 2016 Oct 15;221:446-9. doi: 10.1016/j.ijcard.2016.06.287. Epub 2016 Jun 29. No abstract available.

PMID:
27409572
31.

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families.

Imai A, Kohda M, Nakaya A, Sakata Y, Murayama K, Ohtake A, Lathrop M, Okazaki Y, Ott J.

J Hum Genet. 2016 Nov;61(11):959-963. doi: 10.1038/jhg.2016.85. Epub 2016 Jun 30.

32.

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate.

Hashimura Y, Morioka I, Hisamatsu C, Yokoyama N, Taniguchi-Ikeda M, Yokozaki H, Murayama K, Ohtake A, Itoh K, Takeshima Y, Iijima K.

Pediatr Int. 2016 Jul;58(7):651-5. doi: 10.1111/ped.12907. Epub 2016 Jun 6.

PMID:
27264907
33.

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.

Higuchi T, Kobayashi M, Ogata J, Kaneshiro E, Shimada Y, Kobayashi H, Eto Y, Maeda S, Ohtake A, Ida H, Ohashi T.

JIMD Rep. 2016;30:63-72. Epub 2016 Jun 3.

34.

Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

Imai A, Fujita S, Kishita Y, Kohda M, Tokuzawa Y, Hirata T, Mizuno Y, Harashima H, Nakaya A, Sakata Y, Takeda A, Mori M, Murayama K, Ohtake A, Okazaki Y.

Int J Cardiol. 2016 Mar 15;207:203-5. doi: 10.1016/j.ijcard.2016.01.026. Epub 2016 Jan 7. No abstract available.

PMID:
26803244
35.

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y.

PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.

36.

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Kishita Y, Pajak A, Bolar NA, Marobbio CM, Maffezzini C, Miniero DV, Monné M, Kohda M, Stranneheim H, Murayama K, Naess K, Lesko N, Bruhn H, Mourier A, Wibom R, Nennesmo I, Jespers A, Govaert P, Ohtake A, Van Laer L, Loeys BL, Freyer C, Palmieri F, Wredenberg A, Okazaki Y, Wedell A.

Am J Hum Genet. 2015 Nov 5;97(5):761-8. doi: 10.1016/j.ajhg.2015.09.013. Epub 2015 Oct 29.

37.

Overcoming metal-induced fluorescence quenching on plasmo-photonic metasurfaces coated by a self-assembled monolayer.

Choi B, Iwanaga M, Miyazaki HT, Sugimoto Y, Ohtake A, Sakoda K.

Chem Commun (Camb). 2015 Jul 21;51(57):11470-3. doi: 10.1039/c5cc04426j.

PMID:
26088784
38.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16. Review.

PMID:
26074369
39.

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

Fukumura S, Ohba C, Watanabe T, Minagawa K, Shimura M, Murayama K, Ohtake A, Saitsu H, Matsumoto N, Tsutsumi H.

J Hum Genet. 2015 Sep;60(9):509-13. doi: 10.1038/jhg.2015.57. Epub 2015 May 28.

PMID:
26016410
40.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kölker S, Prokisch H, Klopstock T.

Ann Clin Transl Neurol. 2015 May;2(5):492-509. doi: 10.1002/acn3.189. Epub 2015 Mar 13.

41.

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

Abe Y, Terashima H, Hoshino H, Sassa K, Sakai T, Ohtake A, Kubota M, Yamanouchi H.

Brain Dev. 2016 Jan;38(1):174. doi: 10.1016/j.braindev.2015.04.009. Epub 2015 May 8. No abstract available.

PMID:
25963376
42.

Efficacy and Safety of Pitavastatin in Japanese Male Children with Familial Hypercholesterolemia.

Harada-Shiba M, Arisaka O, Ohtake A, Okada T, Suganami H; NK-104-PH 01 study registration group.

J Atheroscler Thromb. 2016;23(1):48-55. doi: 10.5551/jat.28753. Epub 2015 Apr 20.

43.

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

Abe Y, Terashima H, Hoshino H, Sassa K, Sakai T, Ohtake A, Kubota M, Yamanouchi H.

Brain Dev. 2015 Oct;37(9):894-6. doi: 10.1016/j.braindev.2015.01.006. Epub 2015 Feb 14.

PMID:
25687202
44.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D.

Am J Hum Genet. 2015 Feb 5;96(2):309-17. doi: 10.1016/j.ajhg.2014.12.023.

45.

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K.

Brain Dev. 2015 Aug;37(7):719-24. doi: 10.1016/j.braindev.2014.10.013. Epub 2014 Nov 18.

PMID:
25466440
46.

Fever of unknown origin as the initial manifestation of valproate-induced Fanconi syndrome.

Nozaki F, Kumada T, Kusunoki T, Fujii T, Murayama K, Ohtake A.

Pediatr Neurol. 2014 Dec;51(6):846-9. doi: 10.1016/j.pediatrneurol.2014.09.007. Epub 2014 Sep 21.

PMID:
25439492
47.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

48.

The ratio of glycated albumin to hemoglobin A1c measured in IFCC units accurately represents the glycation gap.

Akatsuka J, Mochizuki M, Musha I, Ohtake A, Kobayashi K, Kikuchi T, Kikuchi N, Kawamura T, Urakami T, Sugihara S, Hoshino T, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes.

Endocr J. 2015;62(2):161-72. doi: 10.1507/endocrj.EJ14-0066. Epub 2014 Nov 2.

49.

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.

Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y.

Ann Clin Transl Neurol. 2014 May;1(5):361-9. doi: 10.1002/acn3.59. Epub 2014 Apr 28.

50.

Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation.

Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A.

Endocrine. 2015 Jun;49(2):553-6. doi: 10.1007/s12020-014-0434-4. Epub 2014 Oct 2. No abstract available.

PMID:
25273316

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