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849 results

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Page 1
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sekiguchi F, et al. Among authors: mitsuhashi s. J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17. J Hum Genet. 2019. PMID: 31530938
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. Mitsuhashi S, et al. Among authors: mitsuhashi h. Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010. Am J Hum Genet. 2011. PMID: 21665002 Free PMC article.
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.
Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I. Hamanaka K, et al. Among authors: mitsuhashi s. Neuromuscul Disord. 2016 Mar;26(3):234-5. doi: 10.1016/j.nmd.2015.11.010. Epub 2015 Dec 3. Neuromuscul Disord. 2016. PMID: 26898940 No abstract available.
Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308].
Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I. Hamanaka K, et al. Among authors: mitsuhashi s. Neuromuscul Disord. 2016 Jul;26(7):472. doi: 10.1016/j.nmd.2016.05.015. Neuromuscul Disord. 2016. PMID: 27312129 No abstract available.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: mitsuhashi s. Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666374 Free PMC article.
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I. Zhu W, et al. Among authors: mitsuhashi s. J Hum Genet. 2017 Feb;62(2):159-166. doi: 10.1038/jhg.2016.134. Epub 2016 Nov 10. J Hum Genet. 2017. PMID: 27829678
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N. Miyatake S, et al. Among authors: mitsuhashi s. Am J Hum Genet. 2017 Jan 5;100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017374 Free PMC article.
A novel mutation in SLC1A3 causes episodic ataxia.
Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. Among authors: mitsuhashi s. J Hum Genet. 2018 Feb;63(2):207-211. doi: 10.1038/s10038-017-0365-z. Epub 2017 Dec 5. J Hum Genet. 2018. PMID: 29208948
849 results