53. Fujino H, Suwazono S, Ueda Y, Kobayashi M, Nakayama T, Imura O, Matsumura T, Takahashi MP. Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study. J Neuromuscul Dis. 2023 Aug 17. doi: 10.3233/JND-230083.
52. Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato
M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki
M. Efficacy confirmation study of aceneuramic acid administration for GNE
myopathy in Japan. Orphanet J Rare Dis. 2023 Aug 11;18(1):241. doi: 10.1186/s13023-023-02850-y.
51. Kubota T, Takahashi S, Yamamoto R, Sato R, Miyanooto A, Yamamoto R, Yamauchi K, Homma K, Takahashi MP. Optical measurement of gating pore currents in hypokalemic periodic paralysis
model cells. Dis Model Mech. 22023 Jun 1;16(6):dmm049704. doi: 10.1242/dmm.049704.
Epub 2023 Jun 27.
50. Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato
M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki
M. Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy
in Japan. J Neuromuscul Dis. 2023 Apr 25. doi: 10.3233/JND-230029.
49. Yamauchi K, Matsumura T, Takada H, Kuru S, Kobayashi M, Kubota T, Kimura E, Nakamura H, Takahashi MP. The current status of medical care for myotonic dystrophy type 1 in the
national registry of Japan. Muscle Nerve. 2023 May;67(5):387-393.
48. Uzawa A, Suzuki S, Kuwabara S, Akamine H, Onishi Y, Yasuda M, Ozawa Y, Kawaguchi N, Kubota T, Takahashi MP, Suzuki Y, Watanabe G, Kimura T, Sugimoto T, Samukawa M, Minami N, Masuda
M, Konno S, Nagane Y, Utsugisawa K. Effectiveness of early cycles of fast-acting
treatment in generalised myasthenia gravis. J Neurol Neurosurg Psychiatry.
2023 Jan 24:jnnp-2022-330519.
47. Segawa K, Nishiyama M, Mori I, Kubota T, Takahashi MP. Hyperkalemic periodic paralysis associated with a novel missense variant
located in the inner pore of Nav1.4. Brain Dev. 2023 Apr;45(4):205-211.
46. Uzawa A, Suzuki S, Kuwabara S, Akamine H, Onishi Y, Yasuda M, Ozawa Y, Kawaguchi N, Kubota T, Takahashi MP, Suzuki Y, Watanabe G, Kimura T, Sugimoto T, Samukawa M, Minami N, Masuda
M, Konno S, Nagane Y, Utsugisawa K. Impact of Early Treatment with Intravenous
High-Dose Methylprednisolone for Ocular Myasthenia Gravis. Neurotherapeutics.
2023 Mar;20(2):518-523.
45．Suzuki, S, Masuda, M, Uzawa, A., Nagane, Y., Konno, S., Suzuki, Y.,
Kubota, T., Sugimoto, T., Samukawa, M., Watanabe, G., Ishizuchi, K., Akamine, H.,
Onishi, Y., Yoshizumi, K., Uchi, T., Amino, I., Ueta, Y., Minami, N., Kawaguchi,
N., Kimura, T., Takahashi, M.P., Murai, H. and Utsugisawa, K. Japan MG Registry: chronological surveys
over 10 years. Clin Exp Neuroimmunol. 2022 in press
44． Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue H, Takahashi MP. Periodic paralysis due to cumulative effects of rare variants in SCN4A
with small functional alterations. Muscle Nerve. 2022 Dec;66(6):757-761.
43．Baba K, Fukuda T, Furuta M, Tada S, Imai A, Asano Y, Sugie H, Takahashi MP, Mochizuki H. A case of a mild clinical phenotype with myopathic and hemolytic forms of phosphoglycerate kinase deficiency (PGK Osaka): A case report and literature review. Intern Med. 2022 Dec 1;61(23):3589-3594.
42．Fujiwara K, Yamamoto R, Kubota T, Tazumi A, Sabuta T, Takahashi MP, Sakurai H. Mature Myotubes generated from human-induced pluripotent stem cells without forced gene expression. Front Cell Dev Biol. 2022 May 30;10:886879.
41．Fujino H, Saito T, Takahashi MP, Takada H, Nakayama T, Imura O, Matsumura T. Quality of life and subjective
symptom impact in Japanese patients with myotonic dystrophy type 1. BMC
Neurol. 2022 Feb 14;22(1):55.
40． Sugimoto M, Kuru S, Takada H, Horie R, Yamauchi K, Kubota T, Matsumura T, Nakamura H, Kimura E, Takahashi MP. Characteristics of myotonic dystrophy patients in the national registry of Japan. J Neurol Sci. 2022 Jan 15;432:120080.
39． Kubota T, Nabatame S, Sato R, Hama M, Nishiike U, Mochizuki H, Takahashi MP, Takeshima T. Hemiplegic migraine type 2 caused by a novel variant within
the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant. Brain
Dev. 2021 Oct;43(9):952-957. PMID: 34082146
38． Kubota T, Hama M, Sugiura Y, Takahashi Y, Ishikawa K, Mizusawa H, Takahashi MP. A nationwide survey of episodic ataxia in Japan. Neurol Clin Neurosci.
2021; 9: 443– 451. doi:10.1111/ncn3.12550
37．Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami
N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura
M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru
S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N,
Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S,
Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai
N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara
W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K,
Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S,
Uzawa A. Clinicopathologic features of oculopharyngodistal myopathy with
LRP12 CGG repeat expansions compared with other oculopharyngodistal myopathy
subtypes. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509.
PMID: 34047774
36． Hama M, Horie R, Kubota T, Matsumura T, Kimura E, Nakamura H, Takahashi MP, Takada H. Metabolic complications in myotonic dystrophy type 1: A cross-sectional
survey using the National Registry of Japan. J Neurol Sci. 2021 Aug 15;427:117511.
doi: 10.1016/j.jns.2021.117511. Online ahead of print. PMID: 34082146
35．Matsumura T, Takada H, Kobayashi M, Nakajima T, Ogata K, Nakamura A,
Funato M, Kuru S, Komai K, Futamura N, Adachi Y, Arahata H, Fukudome T,
Ishizaki M, Suwazono S, Aoki M, Matsuura T, Takahashi MP, Sunada Y, Hanayama K, Hashimoto H, Nakamura H. A web-based questionnaire
survey on the influence of coronavirus disease-19 on the care of patients
with muscular dystrophy. Neuromuscul Disord. 2021 Sep;31(9):839-846. doi:
10.1016/j.nmd.2021.04.008. Epub ahead of print. PMID: 34462178; PMCID:
PMC8102088.
34．Hamakawa N, Kogetsu A, Isono M, Yamasaki C, Manabe S, Takeda T, Iwamoto
K, Kubota T, Barrett J, Gray N, Turner A, Teare H, Imamura Y, Yamamoto BA, Kaye J,
Hide M, Takahashi MP, Matsumura Y, Javaid MK, Kato K. The practice of active patient involvement in rare disease research using ICT: Experiences and lessons from the RUDY JAPAN project. Res Involv Engagem. 2021 Feb 1;7(1):9. doi: 10.1186/s40900-021-00253-6.
33．Itoh H, Hisamatsu T, Tamura T, Segawa K, Takahashi T, Takada H, Kuru
S, Wada C, Suzuki M, Suwazono S, Sasaki S, Okumura K, Horie M, Takahashi MP, Matumura T. Cardiac conduction disorders as markers of cardiac events
in myotonic dystrophy type 1. J Am Heart Assoc. 2020 Aug 19:e015709. doi:
10.1161/JAHA.119.015709. Epub ahead of print. PMID: 32812471.I
32．Ishikawa T, Mishima H, Barc J, Takahashi MP, Hirono K, Terada S, Kowase S, Sato T, Mukai Y, Yui Y, Ohkubo K, Kimoto H, Watanabe H, Hata Y, Aiba T, Ohno S, Chishaki A, Shimizu W, Horie M, Ichida F, Nogami A, Yoshiura KI, Schott JJ, Makita N. Cardiac emerinopathy: A non-syndromic nuclear envelopathy with increased risk of thromboembolic stroke due to progressive atrial standstill and left ventricular non-compaction. Circ Arrhythm Electrophysiol. 2020 Jul 29. doi: 10.1161/CIRCEP.120.008712. Epub ahead of print. PMID: 32755394.
31． Kubota T, Wu F, Vicart S, Nakaza M, Sternberg D, Watanabe D, Furuta M, Kokunai Y, Abe T, Kokubun N, Fontaine B, Cannon SC, Takahashi MP. Hypokalemic periodic paralysis with a charge-retaining substitution in
the voltage sensor. Brain communications. 2020 Jul 16;2(2):fcaa103. doi:
10.1093/braincomms/fcaa103. eCollection 2020. PMID: 33005891
30．Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP. Mutation spectrum and health status in skeletal muscle channelopathies in Japan. Neuromuscul Disord. 2020 Jun 07, doi:https://doi.org/10.1016/j.nmd.2020.06.001
29． Nakaza M, Kitamura Y, Furuta M, Kubota T, Sasaki R, Takahashi MP. Analysis of the genetic background associated with sporadic periodic
paralysis in Japanese patients. J Neurol Sci. 2020 May 15;412:116795. doi:
10.1016/j.jns.2020.116795. Epub 2020 Mar 24.
28． Horie R, Kubota T, Koh J, Tanaka R, Nakamura Y, Sasaki R, Ito H, Takahashi MP. EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome
by impairing fast inactivation. Muscle Nerve. 2020 Mar 4. doi: 10.1002/mus.26849.
27．Du X, Carvalho-de-Souza JL, Wei C, Carrasquel-Ursulaez W, Lorenzo Y, Gonzalez N, Kubota T, Staisch J, Hain T, Petrossian N, Xu M, Latorre R, Bezanilla F, Gomez CM. Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proc Natl Acad Sci U S A. 2020 Mar 4. pii: 201920008. doi: 10.1073/pnas.1920008117.
26．Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. The expanding phenotype of hypokalemic periodic
paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. Mol
Genet Genomic Med. 2020 Feb 27:e1175. doi: 10.1002/mgg3.1175.
25．Nakamori M, Panigrahi GB, Lanni S, Gall-Duncan T, Hayakawa H, Tanaka
H, Luo J, Otabe T, Li J, Sakata A, Caron MC, Joshi N, Prasolava T, Chiang
K, Masson JY, Wold MS, Wang X, Lee MYWT, Huddleston J, Munson KM, Davidson
S, Layeghifard M,Edward LM, Gallon R, Santibanez-Koref M, Murata A, Takahashi MP, Eichler EE, Shlien A, Nakatani K, Mochizuki H, Pearson CE. A slipped-CAG
DNA-binding small molecule induces trinucleotide-repeat contractions in
vivo. Nat Genet. 2020 Feb;52(2):146-159. doi: 10.1038/s41588-019-0575-8.
24． Takahashi MP, Yamamoto R, Kubota T, Matsuura T, Ishigaki K, Sunada Y, Komaki H, Takada H, Kuru S, Matsumura T. [Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey]. Rinsho Shinkeigaku.2020 Feb 27;60(2):130-136. doi: 10.5692/clinicalneurol.cn-001349. Epub 2020 Jan 18. Japanese.
23．Matsumura T, Takada H, Ishigaki K, Komaki H, Takahashi MP. [Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey]. Rinsho Shinkeigaku. 2020 Feb 27;60(2):120-129. doi: 10.5692/clinicalneurol.cn-001347. Epub 2020 Jan 18. Japanese.
22．Fukumura S, Yamauchi K, Kawanabe A, Yamamoto A, Nakaza M, Kubota T, Kato S, Sasaki R, Okamura Y, Takahashi MP. Functional analysis of a double-point mutation in the KCNJ2 gene identified
in a family with Andersen-Tawil syndrome. J Neurol Sci. 2019 Dec 15;407:116521.
doi: 10.1016/j.jns.2019.116521.
21．Auxerre-Plantié E, Nakamori M, Renaud Y, Huguet A, Choquet C, Dondi
C, Miquerol L, Takahashi MP, Gourdon G, Junion G, Jagla T, Zmojdzian M, Jagla K. Straightjacket/α2δ3
deregulation is associated with cardiac conduction defects in myotonic
dystrophy type 1. Elife. 2019 Dec 12;8. pii: e51114. doi: 10.7554/eLife.51114.
20．Mori C, Nakatani R, Nakamori M, Matsumura T, Takahashi MP, Fujimura H, Mochizuki H, Sakoda S. A family with both X-linked dominantCharcot-Marie-Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations. Neurology and Clinical Neuroscience 2019 7(2): 88-90.
19． Mori I, Fujino H, Matsumura T, Takada H, Ogata K, Nakamori M, Innami K, Shingaki
H, Imura O, Takahashi MP, Heatwole C. The myotonic dystrophy health index: Japanese adaption and
validity testing. Muscle Nerve. 2019 Jan 25. doi: 10.1002/mus.26422. [Epub
ahead of print]
18．Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi:10.1186/s13023-019-1157-7.
17．Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach
F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H,
Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand
N. rbFOX1/ MBNL1 competition for binding to CCUG RNA repeats may contribute
to myotonic dystrophy type 1/ type 2 differences. Nat Commun. 2018 May
22;9(1):2009. doi: 10.1038/s41467-018-04370-x.
16．Fujino H, Saito T, Takahashi MP, Takada H, Nakayama T, Ogata K, Rose MR, Imura O, Matsumura T. Validation
of the Individualized Neuromuscular Quality of Life in Japanese patients
with myotonic dystrophy. Muscle Nerve. 2018 Jan 17. doi: 10.1002/mus.26071.
[Epub ahead of print] PubMed PMID: 29342319.
15．Furuta M, Kimura T, Nakamori M, Matsumura T, Fujimura H, Jinnai K, Takahashi MP, Mochizuki H, Yoshikawa H. Macroscopic and microscopic diversity of mis-splicing in the central nervous system of myotonic dystrophy type 1. Neuroreport 2018 Feb 7;29(3):235-240.
14．Fujino H, Shingaki H, Suwazono S, Ueda Y, Wada C, Nakayama T, Takahashi MP, Imura O, Matsumura T. Cognitive impairment and quality of life in patients
with myotonic dystrophy type 1. Muscle Nerve. 2017 Nov 28. doi: 10.1002/mus.26022.
[Epub ahead of print] PubMed PMID: 29193182.
13．Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki
H, Sakoda S, Takahashi MP, Nishino I. GNE myopathy caused by a synonymous mutation leading to aberrant
mRNA splicing. Neuromuscul Disord. 2018 Feb;28(2):154-157. doi: 10.1016/j.nmd.2017.11.003.
Epub 2017 Nov 22. PubMed PMID: 29307446.
12．Nakamori M, Hamanaka K, Thomas JD, Wang ET, Hayashi YK, Takahashi MP, Swanson MS, Nishino I, Mochizuki H. Aberrant myokine signaling in congenital myotonic dystrophy. Cell Rep. 2017 Oct 31;21(5):1240-1252. doi: 10.1016/j.celrep.2017.10.018. PubMed PMID: 29091763.
11．Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N, Yamamoto Y, Saigoh K, Kusunoki
S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H. WNK1/HSN2 founder mutation
in patients with hereditary sensory and autonomic neuropathy: A Japanese
cohort study. Clin Genet. 2017 Dec;92(6):659-663. doi: 10.1111/cge.13037.
Epub 2017 Jul 20. PubMed PMID: 28422281.
10． Kubota T, Dang B, Carvalho-de-Souza JL, Correa AM, Bezanilla F. Nav channel binder
containing a specific conjugation-site based on a low toxicity β-scorpion
toxin. Sci Rep. 2017 Nov 27;7(1):16329. doi: 10.1038/s41598-017-16426-x.
9． Kubota T, Correa AM, Bezanilla F. Mechanism of functional interaction between potassium
channel Kv1.3 and sodium channel NavBeta1 subunit. Sci Rep. 2017 Mar 28;7:45310.
doi: 10.1038/srep45310.
8．Dang B, Shen R, Kubota T, Mandal K, Bezanilla F, Roux B, Kent SB. Inversion of the side-chain stereochemistry
of indvidual Thr or Ile residues in a protein molecule: Impact on the folding,
stability, and structure of the ShK Toxin. Angew Chem Int Ed Engl. 2017
Mar 13;56(12):3324-3328. doi: 10.1002/anie.201612398. Epub 2017 Feb 14.
7． Kubota T, Durek T, Dang B, Finol-Urdaneta RK, Craik DJ, Kent SB, French RJ, Bezanilla F, Correa AM. Mapping of voltage sensor positions in resting and inactivated mammalian sodium channels by LRET. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):E1857-E1865. doi: 10.1073/pnas.1700453114. Epub 2017 Feb 15.
6．Ueki J, Nakamori M, Nakamura M, Nishikawa M, Yoshida Y, Tanaka A, Morizane
A, Kamon M, Araki T, Takahashi MP, Watanabe A, Inagaki N, Sakurai H. Myotonic dystrophy type 1 patient-derived
iPSCs for the investigation of CTG repeat instability. Sci Rep. 2017 Feb
13;7:42522. doi: 10.1038/srep42522.
5．Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. J Neurol Sci. 2016 Oct 15;369:254-258. doi: 10.1016/j.jns.2016.08.030. Epub 2016 Aug 13.
4．Coathup V, Teare HJ, Minari J, Yoshizawa G, Kaye J, Takahashi MP, Kato K. Using Digital Technologies to Engage with Medical Research: Views
of Myotonic Dystrophy Patients in Japan. BMC Med Ethics. 2016 Aug 24;17(1):51.
doi: 10.1186/s12910-016-0132-2.
3．Dang B, Kubota T, Mandal K, Correa AM, Bezanilla F, Kent SB. Elucidation of the Covalent
and Tertiary Structures of Biologically Active Ts3 Toxin. Angew Chem Int
Ed Engl. 2016 Jul 18;55(30):8639-42. doi: 10.1002/anie.201603420. Epub
2016 May 31.
2．Furuta M, Sumi-Akamaru H, Takahashi MP, Hayashi YK, Nishino I, Mochizuki H. An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. Neuromuscul Disord. 2016 May 5. pii: S0960-8966(15)30157-7. doi: 10.1016/j.nmd.2016.05.002.
1．Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino
Y, Arandel L, Jollet A, Thibault C, Philipps M, Vicaire S, Jost B, Udd
B, Day JW, Duboc D, Wahbi K, Matsumura T, Fujimura H, Mochizuki H, Deryckere
F, Kimura T, Nukina N, Ishiura S, Lacroix V, Campan-Fournier A, Navratil
V, Chautard E, Auboeuf D, Horie M, Imoto K, Lee K-Y, Swanson MS, Lopez
de Munain A, Inada S, Itoh H, Nakazawa K, Ashihara T, Wang E, Zimmer T,
Furling D, Takahashi MP & Charlet-Berguerand N. Splicing misregulation of SCN5A contributes
to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. Nat
Comm 2016 Apr 11;7:11067. doi: 10.1038/ncomms11067.
Nakamori M, Taylor K, Mochizuki H, Sobczak K, Takahashi MP.
Oral administration of erythromycin decreases RNA toxicity in myotonic
dystrophy. Annals of Clinical and Translational Neurology 2015 Dec
10;3(1):42-54.
Nakatani R, Nakamori M, Fujimura H, Mochizuki H, Takahashi MP Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells. Sci Rep. 2015 Jun 5;5:11020.
Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T,
Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K,
Takahashi MP. A Kir3.4 mutation causes Andersen–Tawil syndrome by an
inhibitory effect on Kir2.1. Neurology 2014 Mar 25;82(12):1058-64.
Charizanis K, Lee K-Y,
Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G,
Kumar A, Ashizawa T, Brent Clark H, Kimura T, Takahashi MP,
Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N,
Nishino S, Ares Jr M, Darnell RB, Swanson M. Muscleblind-like 2 mediated
alternative splicing in the developing brain and dysregulation in
myotonic dystrophy. Neuron 2012 Aug 9;75(3):437-50.
Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer
MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW,
Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D,
Charlet-Berguerand N. Misregulation of miR-1 processing is associated
with heart defects in myotonic dystrophy. Nat Struct Mol Biol. 2011 Jun
19;18(7):840-5.
Fugier C, Klein AF,
Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A,
Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D,
Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL,
Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L,
Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez
G, Laporte J, Furling D, Charlet-Berguerand N. Misregulated alternative
splicing of BIN1 is associated with T tubule alterations and muscle
weakness in myotonic dystrophy. Nature Medicine 2011 Jun;17(6):720-5.
Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, and Takahashi MP.
A mutation in a rare type of intron in a sodium-channel gene results in
aberrant splicing and causes myotonia. Human Mutation 2011
Jul;32(7):773-82.
Nakamori M, Kimura T, Kubota T, Matsumura T, Sumi H, Fujimura H, Takahashi MP,
Sakoda S. Aberrantly spliced α-dystrobrevin alters α-syntrophin binding
in myotonic dystrophy type 1. Neurology 2008 Feb 26;70(9):677-85.
Hino SI, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP,
Imaizumi K. Molecular mechanisms responsible for aberrant splicing of
SERCA1 in myotonic dystrophy type 1. Hum Mol Genet. 2007 Dec
1;16(23):2834-43.
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S. Altered mRNA splicing of the skeletal muscle ryanodine
receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic
dystrophy type 1. Hum Mol Genet. 2005 Aug 1;14(15):2189-200.
Mankodi A, Takahashi MP,
Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA.
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel
pre-mRNA and hyperexcitability of skeletal muscle in myotonic
dystrophy. Molecular Cell 10: 35-44, 2002.
Takahashi MP,
Cannon SC. Mexiletine block of disease-associated mutations in S6
segments of the human skeletal muscle Na+ channel. J. Physiol. (Lond.)
537: 701-714, 2001.
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