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Research | 12 October 2020 | Open
Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy
Scientific Reports 10 , 1–17

Rights & permissionsfor article Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy . Opens in a new window.
Research | 5 June 2020 | Open
Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report
Journal of Human Genetics 65 , 903–909

Rights & permissionsfor article Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A <i>DMD</i> splice-site mutation: a case report . Opens in a new window.
Amendments and Corrections | 26 December 2018
Correction: GNE myopathy in Chinese population: hotspot and novel mutations
- Yang Chen
- , Jianying Xi
- , Wenhua Zhu
- , Jie Lin
- , Sushan Luo
- , Dongyue Yue
- , Shuang Cai
- , Chong Sun
- , Chongbo Zhao
- , Satomi Mitsuhashi
- , Ichizo Nishino
- , Minjie Xu
- & Jiahong Lu
Journal of Human Genetics 64 , 269–269

Rights & permissionsfor article Correction: GNE myopathy in Chinese population: hotspot and novel mutations . Opens in a new window.
Research | 20 April 2020 | Open
Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
- Tetsuya Okazaki
- , Kaori Matsuura
- , Noriko Kasagi
- , Kaori Adachi
- , Masachika Kai
- , Mariko Okubo
- , Ichizo Nishino
- , Eiji Nanba
- & Yoshihiro Maegaki
Human Genome Variation 7 , 1–4

Rights & permissionsfor article Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variants . Opens in a new window.
Amendments and Corrections | 1 January 2007
Correction: Corrigendum: Cxorf6 is a causative gene for hypospadias
- Maki Fukami
- , Yuka Wada
- , Kanako Miyabayashi
- , Ichizo Nishino
- , Tomonobu Hasegawa
- , Giovanna Camerino
- , Christine Kretz
- , Anna Buj-Bello
- , Jocelyn Laporte
- , Gen Yamada
- , Ken-ichirou Morohashi
- & Tsutomu Ogata
Nature Genetics 39 , 131–131

Rights & permissionsfor article Correction: Corrigendum: <i>Cxorf6</i> is a causative gene for hypospadias . Opens in a new window.
Research | 26 April 2019 | Open
Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy
- Hideki Shimomura
- , Tomoko Lee
- , Yasuhiko Tanaka
- , Hiroyuki Awano
- , Kyoko Itoh
- , Ichizo Nishino
- & Yasuhiro Takeshima
Human Genome Variation 6 , 1–4

Rights & permissionsfor article Two closely spaced mutations <i>in cis</i> result in Ullrich congenital muscular dystrophy . Opens in a new window.
Research | 19 April 2019 | Open
A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome
- Shumpei Uchino
- , Aritoshi Iida
- , Atsushi Sato
- , Keiko Ishikawa
- , Masakazu Mimaki
- , Ichizo Nishino
- & Yu-ichi Goto
Human Genome Variation 6 , 1–4

Rights & permissionsfor article A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndrome . Opens in a new window.
Research | 2 November 2018
GNE myopathy in Chinese population: hotspot and novel mutations
- Yang Chen
- , Jianying Xi
- , Wenhua Zhu
- , Jie Lin
- , Sushan Luo
- , Dongyue Yue
- , Shuang Cai
- , Chong Sun
- , Chongbo Zhao
- , Satomi Mitsuhashi
- , Ichizo Nishino
- , Minjie Xu
- & Jiahong Lu
Journal of Human Genetics 64 , 11–16

Rights & permissionsfor article GNE myopathy in Chinese population: hotspot and novel mutations . Opens in a new window.
Research | 20 July 2018 | Open
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
- Akihiko Ishiyama
- , Aritoshi Iida
- , Shinichiro Hayashi
- , Hirofumi Komaki
- , Masayuki Sasaki
- , Ikuya Nonaka
- , Satoru Noguchi
- & Ichizo Nishino
Human Genome Variation 5 , 1–5

Rights & permissionsfor article A novel <i>LMNA</i> mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy . Opens in a new window.
Research | 30 May 2018 | Open
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
- Michio Inoue
- , Aritoshi Iida
- , Shinichiro Hayashi
- , Madoka Mori-Yoshimura
- , Atsushi Nagaoka
- , Shunsuke Yoshimura
- , Hirokazu Shiraishi
- , Akira Tsujino
- , Yuji Takahashi
- , Ikuya Nonaka
- , Yukiko K. Hayashi
- , Satoru Noguchi
- & Ichizo Nishino
Human Genome Variation 5 , 1–5

Rights & permissionsfor article Two novel <i>VCP</i> missense variants identified in Japanese patients with multisystem proteinopathy . Opens in a new window.
Amendments and Corrections | 25 September 2017
Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
- Mariko Okubo
- , Narihiro Minami
- , Kanako Goto
- , Yuichi Goto
- , Satoru Noguchi
- , Satomi Mitsuhashi
- & Ichizo Nishino
Journal of Human Genetics 62 , 931–933

Rights & permissionsfor article Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of <i>DMD</i> mutations . Opens in a new window.
Research | 10 November 2016
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele
Journal of Human Genetics 62 , 159–166

Rights & permissionsfor article Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele . Opens in a new window.
Research | 25 February 2016 | Open
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
- Mariko Okubo
- , Narihiro Minami
- , Kanako Goto
- , Yuichi Goto
- , Satoru Noguchi
- , Satomi Mitsuhashi
- & Ichizo Nishino
Journal of Human Genetics 61 , 483–489

Rights & permissionsfor article Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of <i>DMD</i> mutations . Opens in a new window.
Research | 2 February 2017
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
- Takehiko Inui
- , Mai Anzai
- , Yusuke Takezawa
- , Wakaba Endo
- , Yosuke Kakisaka
- , Atsuo Kikuchi
- , Akira Onuma
- , Shigeo Kure
- , Ichizo Nishino
- , Chihiro Ohba
- , Hirotomo Saitsu
- , Naomichi Matsumoto
- & Kazuhiro Haginoya
Journal of Human Genetics 62 , 653–655

Rights & permissionsfor article A novel mutation in the proteolytic domain of <i>LONP1</i> causes atypical CODAS syndrome . Opens in a new window.
Research | 5 July 2013 | Open
Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
- Kosuke Oana
- , Yoko Oma
- , Satoshi Suo
- , Masanori P. Takahashi
- , Ichizo Nishino
- , Shin'ichi Takeda
- & Shoichi Ishiura
Scientific Reports 3 , 1–7

Rights & permissionsfor article Manumycin A corrects aberrant splicing of <i>Clcn1</i> in myotonic dystrophy type 1 (DM1) mice . Opens in a new window.
Research | 16 July 2015 | Open
A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy
- Tetsuya Oda
- , Hui Xiong
- , Kazuhiro Kobayashi
- , Shuo Wang
- , Wataru Satake
- , Hui Jiao
- , Yanling Yang
- , Pei-Chieng Cha
- , Yukiko K Hayashi
- , Ichizo Nishino
- , Yutaka Suzuki
- , Sumio Sugano
- , Xiru Wu
- & Tatsushi Toda
Human Genome Variation 2 , 1–7

Rights & permissionsfor article A <i>de novo</i> mutation of the <i>MYH7</i> gene in a large Chinese family with autosomal dominant myopathy . Opens in a new window.
Correspondence | 16 May 2013
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy
- Tohru Matsuura
- , Tatsuaki Kurosaki
- , Yoshio Omote
- , Narihiro Minami
- , Yukiko K Hayashi
- , Ichizo Nishino
- & Koji Abe
Journal of Human Genetics 58 , 564–565

Rights & permissionsfor article Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy . Opens in a new window.
Research | 7 August 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
- Hirotomo Saitsu
- , Jun Tohyama
- , Tom Walsh
- , Mitsuhiro Kato
- , Yu Kobayashi
- , Ming Lee
- , Yoshinori Tsurusaki
- , Noriko Miyake
- , Yu-ichi Goto
- , Ichizo Nishino
- , Akira Ohtake
- , Mary-Claire King
- & Naomichi Matsumoto
Journal of Human Genetics 59 , 581–583

Rights & permissionsfor article A girl with West syndrome and autistic features harboring a <i>de novo TBL1XR1</i> mutation . Opens in a new window.
Research | 16 January 2014 | Open
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2
- Takahiro Nakayama
- , Harumasa Nakamura
- , Yasushi Oya
- , Takashi Kimura
- , Ichiro Imahuku
- , Kinji Ohno
- , Ichizo Nishino
- , Koji Abe
- & Tohru Matsuura
Journal of Human Genetics 59 , 129–133

Rights & permissionsfor article Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2 . Opens in a new window.
Research | 22 July 2013 | Open
Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice
- Michinori Koebis
- , Tamami Kiyatake
- , Hiroshi Yamaura
- , Kanako Nagano
- , Mana Higashihara
- , Masahiro Sonoo
- , Yukiko Hayashi
- , Yoichi Negishi
- , Yoko Endo-Takahashi
- , Dai Yanagihara
- , Ryoichi Matsuda
- , Masanori P. Takahashi
- , Ichizo Nishino
- & Shoichi Ishiura
Scientific Reports 3 , 1–7

Rights & permissionsfor article Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice . Opens in a new window.
Research | 24 August 2000
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
- Ichizo Nishino
- , Jin Fu
- , Kurenai Tanji
- , Takeshi Yamada
- , Sadatomo Shimojo
- , Tateo Koori
- , Marina Mora
- , Jack E. Riggs
- , Shin J. Oh
- , Yasutoshi Koga
- , Carolyn M. Sue
- , Ayaka Yamamoto
- , Nobuyuki Murakami
- , Sara Shanske
- , Edward Byrne
- , Eduardo Bonilla
- , Ikuya Nonaka
- , Salvatore DiMauro
- & Michio Hirano
Nature 406 , 906–910

Rights & permissionsfor article Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) . Opens in a new window.
Research | 1 July 2008
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
Journal of Human Genetics 53 , 598–606

Rights & permissionsfor article Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions . Opens in a new window.
Correspondence | 19 January 2012
Myotonic dystrophy type 2 is rare in the Japanese population
- Tohru Matsuura
- , Narihiro Minami
- , Hajime Arahata
- , Kinji Ohno
- , Koji Abe
- , Yukiko K Hayashi
- & Ichizo Nishino
Journal of Human Genetics 57 , 219–220

Rights & permissionsfor article Myotonic dystrophy type 2 is rare in the Japanese population . Opens in a new window.
Research | 6 June 2004
LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
- Rita Barresi
- , Daniel E Michele
- , Motoi Kanagawa
- , Hollie A Harper
- , Sherri A Dovico
- , Jakob S Satz
- , Steven A Moore
- , Wenli Zhang
- , Harry Schachter
- , Jan P Dumanski
- , Ronald D Cohn
- , Ichizo Nishino
- & Kevin P Campbell
Nature Medicine 10 , 696–703

Rights & permissionsfor article LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies . Opens in a new window.
Research | 5 November 2006
CXorf6 is a causative gene for hypospadias
- Maki Fukami
- , Yuka Wada
- , Kanako Miyabayashi
- , Ichizo Nishino
- , Tomonobu Hasegawa
- , Agneta Nordenskjöld
- , Giovanna Camerino
- , Christine Kretz
- , Anna Buj-Bello
- , Jocelyn Laporte
- , Gen Yamada
- , Ken-ichirou Morohashi
- & Tsutomu Ogata
Nature Genetics 38 , 1369–1371

Rights & permissionsfor article <i>CXorf6</i> is a causative gene for hypospadias . Opens in a new window.
Research | 17 May 2009
Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model
Nature Medicine 15 , 690–695

Rights & permissionsfor article Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model . Opens in a new window.
Research | 1 November 1999
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
- Lefkothea C. Papadopoulou
- , Carolyn M. Sue
- , Mercy M. Davidson
- , Kurenai Tanji
- , Ichizo Nishino
- , James E. Sadlock
- , Sindu Krishna
- , Winsome Walker
- , Jeanette Selby
- , D. Moira Glerum
- , Rudy Van Coster
- , Gilles Lyon
- , Emmanuel Scalais
- , Roger Lebel
- , Paige Kaplan
- , Sara Shanske
- , Darryl C. De Vivo
- , Eduardo Bonilla
- , Michio Hirano
- , Salvatore DiMauro
- & Eric A. Schon
Nature Genetics 23 , 333–337

Rights & permissionsfor article Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in <i>SCO2</i>, a COX assembly gene . Opens in a new window.
Research | 23 May 2012
Clinical utility gene card for: Centronuclear and myotubular myopathies
- Valérie Biancalana
- , Alan H Beggs
- , Soma Das
- , Heinz Jungbluth
- , Wolfram Kress
- , Ichizo Nishino
- , Kathryn North
- , Norma B Romero
- & Jocelyn Laporte
European Journal of Human Genetics 20 , 1101–1101

Rights & permissionsfor article <i>Clinical utility gene card for: Centronuclear and myotubular myopathies</i> . Opens in a new window.
Research | 25 July 2002
Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
- Daniel E. Michele
- , Rita Barresi
- , Motoi Kanagawa
- , Fumiaki Saito
- , Ronald D. Cohn
- , Jakob S. Satz
- , James Dollar
- , Ichizo Nishino
- , Richard I. Kelley
- , Hannu Somer
- , Volker Straub
- , Katherine D. Mathews
- , Steven A. Moore
- & Kevin P. Campbell
Nature 418 , 417–421

Rights & permissionsfor article Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies . Opens in a new window.
Research | 1 June 2006
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
- Tesseki Kin
- , Kazuma Sugie
- , Makito Hirano
- , Yu-ichi Goto
- , Ichizo Nishino
- & Satoshi Ueno
Journal of Human Genetics 51 , 555–558

Rights & permissionsfor article Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia . Opens in a new window.
Research | 22 July 2019
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- Hiroyuki Ishiura
- , Shota Shibata
- , Jun Yoshimura
- , Yuta Suzuki
- , Wei Qu
- , Koichiro Doi
- , M. Asem Almansour
- , Junko Kanda Kikuchi
- , Makiko Taira
- , Jun Mitsui
- , Yuji Takahashi
- , Yaeko Ichikawa
- , Tatsuo Mano
- , Atsushi Iwata
- , Yasuo Harigaya
- , Miho Kawabe Matsukawa
- , Takashi Matsukawa
- , Masaki Tanaka
- , Yuichiro Shirota
- , Ryo Ohtomo
- , Hisatomo Kowa
- , Hidetoshi Date
- , Aki Mitsue
- , Hiroyuki Hatsuta
- , Satoru Morimoto
- , Shigeo Murayama
- , Yasushi Shiio
- , Yuko Saito
- , Akihiko Mitsutake
- , Mizuho Kawai
- , Takuya Sasaki
- , Yusuke Sugiyama
- , Masashi Hamada
- , Gaku Ohtomo
- , Yasuo Terao
- , Yoshihiko Nakazato
- , Akitoshi Takeda
- , Yoshio Sakiyama
- , Yumi Umeda-Kameyama
- , Jun Shinmi
- , Katsuhisa Ogata
- , Yutaka Kohno
- , Shen-Yang Lim
- , Ai Huey Tan
- , Jun Shimizu
- , Jun Goto
- , Ichizo Nishino
- , Tatsushi Toda
- , Shinichi Morishita
- & Shoji Tsuji
Nature Genetics 51 , 1222–1232

Rights & permissionsfor article Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease . Opens in a new window.
Research | 23 November 2018
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy
- Kohei Hamanaka
- , Satoko Miyatake
- , Eriko Koshimizu
- , Yoshinori Tsurusaki
- , Satomi Mitsuhashi
- , Kazuhiro Iwama
- , Ahmed N. Alkanaq
- , Atsushi Fujita
- , Eri Imagawa
- , Yuri Uchiyama
- , Nozomu Tawara
- , Yukio Ando
- , Yohei Misumi
- , Mariko Okubo
- , Mitsuko Nakashima
- , Takeshi Mizuguchi
- , Atsushi Takata
- , Noriko Miyake
- , Hirotomo Saitsu
- , Aritoshi Iida
- , Ichizo Nishino
- & Naomichi Matsumoto
Genetics in Medicine 21 , 1629–1638

Rights & permissionsfor article RNA sequencing solved the most common but unrecognized <i>NEB</i> pathogenic variant in Japanese nemaline myopathy . Opens in a new window.
Research | 20 February 2018 | Open
Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
- Huan T. Nguyen
- , Satoru Noguchi
- , Kazuma Sugie
- , Yoshiyuki Matsuo
- , Chuyen T. H. Nguyen
- , Hitoshi Koito
- , Ichiro Shiojima
- , Ichizo Nishino
- & Hiroyasu Tsukaguchi
Scientific Reports 8 , 1–17

Rights & permissionsfor article Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency . Opens in a new window.
Research | 14 June 2017 | Open
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
- Ikumi Hori
- , Takanobu Otomo
- , Mitsuko Nakashima
- , Fuyuki Miya
- , Yutaka Negishi
- , Hideaki Shiraishi
- , Yutaka Nonoda
- , Shinichi Magara
- , Jun Tohyama
- , Nobuhiko Okamoto
- , Takeshi Kumagai
- , Konomi Shimoda
- , Yoshiya Yukitake
- , Daigo Kajikawa
- , Tomohiro Morio
- , Ayako Hattori
- , Motoo Nakagawa
- , Naoki Ando
- , Ichizo Nishino
- , Mitsuhiro Kato
- , Tatsuhiko Tsunoda
- , Hirotomo Saitsu
- , Yonehiro Kanemura
- , Mami Yamasaki
- , Kenjiro Kosaki
- , Naomichi Matsumoto
- , Tamotsu Yoshimori
- & Shinji Saitoh
Scientific Reports 7 , 1–11

Rights & permissionsfor article Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement . Opens in a new window.
Research | 8 December 2016
TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy
- Toshio Ikeda
- , Akihiko Nakahara
- , Rie Nagano
- , Maiko Utoyama
- , Megumi Obara
- , Hiroshi Moritake
- , Tamayo Uechi
- , Jun Mitsui
- , Hiroyuki Ishiura
- , Jun Yoshimura
- , Koichiro Doi
- , Naoya Kenmochi
- , Shinichi Morishita
- , Ichizo Nishino
- , Shoji Tsuji
- & Hiroyuki Nunoi
Journal of Human Genetics 62 , 473–480

Rights & permissionsfor article <i>TBCD</i> may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy . Opens in a new window.
Research | 1 April 2010
Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca²⁺ and AMPK/SIRT1
- Masato Iwabu
- , Toshimasa Yamauchi
- , Miki Okada-Iwabu
- , Koji Sato
- , Tatsuro Nakagawa
- , Masaaki Funata
- , Mamiko Yamaguchi
- , Shigeyuki Namiki
- , Ryo Nakayama
- , Mitsuhisa Tabata
- , Hitomi Ogata
- , Naoto Kubota
- , Iseki Takamoto
- , Yukiko K. Hayashi
- , Naoko Yamauchi
- , Hironori Waki
- , Masashi Fukayama
- , Ichizo Nishino
- , Kumpei Tokuyama
- , Kohjiro Ueki
- , Yuichi Oike
- , Satoshi Ishii
- , Kenzo Hirose
- , Takao Shimizu
- , Kazushige Touhara
- & Takashi Kadowaki
Nature 464 , 1313–1319

Rights & permissionsfor article Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca<sup>2+</sup> and AMPK/SIRT1 . Opens in a new window.
Research | 29 May 2011
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
- Charlotte Fugier
- , Arnaud F Klein
- , Caroline Hammer
- , Stéphane Vassilopoulos
- , Ylva Ivarsson
- , Anne Toussaint
- , Valérie Tosch
- , Alban Vignaud
- , Arnaud Ferry
- , Nadia Messaddeq
- , Yosuke Kokunai
- , Rie Tsuburaya
- , Pierre de la Grange
- , Doulaye Dembele
- , Virginie Francois
- , Guillaume Precigout
- , Charlotte Boulade-Ladame
- , Marie-Christine Hummel
- , Adolfo Lopez de Munain
- , Nicolas Sergeant
- , Annie Laquerrière
- , Christelle Thibault
- , François Deryckere
- , Didier Auboeuf
- , Luis Garcia
- , Pascale Zimmermann
- , Bjarne Udd
- , Benedikt Schoser
- , Masanori P Takahashi
- , Ichizo Nishino
- , Guillaume Bassez
- , Jocelyn Laporte
- , Denis Furling
- & Nicolas Charlet-Berguerand
Nature Medicine 17 , 720–725

Rights & permissionsfor article Misregulated alternative splicing of <i>BIN1</i> is associated with T tubule alterations and muscle weakness in myotonic dystrophy . Opens in a new window.

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