Works matching DE "MUSCULAR dystrophy genetics"

Results: 120

Generation of muscular dystrophy model rats with a CRISPR/Cas system.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep05635

By:

Katsuyuki Nakamura;
Wataru Fujii;
Masaya Tsuboi;
Jun Tanihata;
Naomi Teramoto;
Shiho Takeuchi;
Kunihiko Naito;
Keitaro Yamanouchi;
Masugi Nishihara

Publication type:

Article

A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2020, v. 58, n. 2, p. 208, doi. 10.4274/haseki.galenos.2019.5177

By:

Ayça, Senem;
Çelebi, Hamide Betül Gerik;
Çam, Sırrı;
Polat, Muzaffer

Publication type:

Article

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.

Published in:

2001

By:

Becher, Mark W.;
Morrison, Leslie;
Davis, Larry E.;
Maki, Wusi C.;
King, Molly K.;
Bicknell, Joseph M.;
Reinert, Brian L.;
Bartolo, Claire;
Bear, David G.;
Becher, M W;
Morrison, L;
Davis, L E;
Maki, W C;
King, M K;
Bicknell, J M;
Reinert, B L;
Bartolo, C;
Bear, D G

Publication type:

journal article

Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.

Published in:

Neurology Asia, 2010, v. 15, n. 1, p. 19

By:

Tan, Jin-Ai Mary Anne;
Chan, James Hsian-Meng;
Kim-Lian Tan;
Annuar, Azlina Ahmad;
Moon-Keen Lee;
Khean-Jin Goh;
Kum-Thong Wong

Publication type:

Article

Broader Clinical Spectrum of Fukuyama-Type Congenital Muscular Dystrophy Manifested by...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 11, p. 711

By:

Yoshioka, Mieko;
Toda, Tatsushi;
Kuroki, Shigekazu;
Hamano, Kenzo

Publication type:

Article

Congenital Muscular Dystrophy, White-Matter Abnormalities, and Neuronal Migration Disorders: The...

Published in:

Journal of Child Neurology, 1998, v. 13, n. 10, p. 481, doi. 10.1177/088307389801301003

By:

Mackay, Mark T.;
Kornberg, Andrew J.;
Shield, Lloyd;
Phelan, Ethna;
Kean, Michael J.;
Coleman, Lee T.;
Dennett, Xenia

Publication type:

Article

Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report.

Published in:

BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02539-0

By:

McGarrigle, Conor;
McGrath, Launcelot;
Khan, Ehtesham

Publication type:

Article

Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.

Published in:

2015

By:

Zamani, Gholam;
Karami, Fatemeh;
Mehdizadeh, Mahshid;
Movafagh, Abolfazl;
Nilipour, Yalda;
Zamani, Mahdi;
Zamani, Gholam Reza

Publication type:

journal article

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 2, p. 92, doi. 10.1038/jhg.2011.129

By:

Salem, Ikhlass Hadj;
Hsairi, Ines;
Mezghani, Najla;
Kenoun, Houda;
Triki, Chahnez;
Fakhfakh, Faiza

Publication type:

Article

The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 11, p. 915, doi. 10.1007/s10038-006-0056-7

By:

Kanagawa, Motoi;
Toda, Tatsushi

Publication type:

Article

A large cohort study confirming that specific haplotype 4A161PAS is exclusively associated with the Chinese FSHD1.

Published in:

Clinical Genetics, 2016, v. 90, n. 6, p. 558, doi. 10.1111/cge.12858

By:

Lin, F.;
He, J‐J.;
Lin, X‐D.;
Wang, D‐N.;
Lin, H‐X.;
Liu, X‐Y.;
Lin, M‐T.;
Wang, N.;
Wang, Z‐Q.

Publication type:

Article

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169

By:

O'Grady, Gina L;
Best, Heather A;
Oates, Emily C;
Kaur, Simranpreet;
Charlton, Amanda;
Brammah, Susan;
Punetha, Jaya;
Kesari, Akanchha;
North, Kathryn N;
Ilkovski, Biljana;
Hoffman, Eric P;
Clarke, Nigel F

Publication type:

Article

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169

By:

de Brouwer, Arjan PM;
Nabuurs, Sander B;
Verhaart, Ingrid EC;
Oudakker, Astrid R;
Hordijk, Roel;
Yntema, Helger G;
Hordijk-Hos, Jannet M;
Voesenek, Krysta;
de Vries, Bert BA;
van Essen, Ton;
Chen, Wei;
Hu, Hao;
Chelly, Jamel;
den Dunnen, Johan T;
Kalscheuer, Vera M;
Aartsma-Rus, Annemieke M;
Hamel, Ben CJ;
van Bokhoven, Hans;
Kleefstra, Tjitske

Publication type:

Article

Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 945, doi. 10.1038/ejhg.2012.40

By:

Raducu, Madalina;
Baets, Jonathan;
Fano, Oihane;
Van Coster, Rudy;
Cruces, Jesús

Publication type:

Article

Clinical variability in calpainopathy: What makes the difference?

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888

By:

de Paula, Flávia;
Vainzof, Mariz;
Passos-Bueno, Maria Rita;
de Cássia M Pavanello, Rita;
Matioli, Sergio Russo;
V B Anderson, Louise;
Nigro, Vincenzo;
Zatz, Mayana

Publication type:

Article

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 396, doi. 10.1038/sj.ejhg.5200197

By:

Lasa, Adriana;
Piccolo, Federica;
de Diego, Carles;
Jeanpierre, Marc;
Colomer, Jaume;
Rodríguez, Maria José;
Urtizberea, Jon Andoni;
Baiget, Montserrat;
Kaplan, Jean Claude;
Gallano, Pia

Publication type:

Article

Mutation in the Ercc2 gene of the mouse causes cataracts.

Published in:

2015

By:

Graw, J.;
Kunze, S.;
Dalke, C.;
Fuchs, H.;
Klaften, M.;
Sabrautzki, S.;
Hrabe de Angelis, M.

Publication type:

Abstract

Gene expression profiling in facioscapulohumeral muscular dystrophy.

Published in:

1999

By:

Winokur, S.T.;
Simon, M.;
Moyzis, R.K.

Publication type:

Abstract

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 285, doi. 10.1038/6799

By:

Bonne, Gisèle;
Barletta, Marina Raffaele Di;
Varnous, Shaida;
Bécane, Henri-Marc;
Hammouda, El-Hadi;
Merlini, Luciano;
Muntoni, Francesco;
Greenberg, Cheryl R.;
Gary, Françoise;
Urtizberea, Jon-Andoni;
Duboc, Denis;
Fardeau, Michel;
Toniolo, Daniela;
Schwartz, Ketty

Publication type:

Article

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 37, doi. 10.1038/1689

By:

Bashir, Rumaisa;
Britton, Stephen;
Strachan, Tom;
Keers, Sharon;
Vafiadaki, Elizabeth;
Lako, Majlinda;
Richard, Isabelle;
Marchand, Sylvie;
Bourg, Nathalie;
Argov, Zohar;
Sadeh, Menachem;
Mahjneh, Ibrahim;
Marconi, Giampiero;
Passos-Bueno, Maria Rita;
Moreira, Eloisa de S;
Zatz, Mayana;
Beckmann, Jacques S.;
Bushby, Kate

Publication type:

Article

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization.

Published in:

PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004605

By:

Meinke, Peter;
Mattioli, Elisabetta;
Haque, Farhana;
Antoku, Susumu;
Columbaro, Marta;
Straatman, Kees R.;
Worman, Howard J.;
Gundersen, Gregg G.;
Lattanzi, Giovanna;
Wehnert, Manfred;
Shackleton, Sue

Publication type:

Article

Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna.

Published in:

PLoS Genetics, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pgen.1002396

By:

Walko, Gernot;
Vukasinovic, Nevena;
Gross, Karin;
Fischer, Irmgard;
Sibitz, Sabrina;
Fuchs, Peter;
Reipert, Siegfried;
Jungwirth, Ute;
Berger, Walter;
Salzer, Ulrich;
Carugo, Oliviero;
Castañón, Maria J.;
Wiche, Gerhard

Publication type:

Article

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene.

Published in:: PLoS Genetics, 2010, v. 6, n. 10, p. 1, doi. 10.1371/journal.pgen.1001181
Publication type:: Article

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Published in:

2016

By:

Schindler, Roland F. R.;
Scotton, Chiara;
Jianguo Zhang;
Passarelli, Chiara;
Ortiz-Bonnin, Beatriz;
Simrick, Subreena;
Schwerte, Thorsten;
Kar-Lai Poon;
Mingyan Fang;
Rinné, Susanne;
Froese, Alexander;
Nikolaev, Viacheslav O.;
Grunert, Christiane;
Müller, Thomas;
Tasca, Giorgio;
Sarathchandra, Padmini;
Drago, Fabrizio;
Dallapiccola, Bruno;
Rapezzi, Claudio;
Arbustini, Eloisa

Publication type:

journal article

Surgical correction of spinal deformity in patients with congenital muscular dystrophy.

Published in:

Journal of Orthopaedic Science, 2010, v. 15, n. 4, p. 493, doi. 10.1007/s00776-010-1486-9

By:

Takaso, Masashi;
Nakazawa, Toshiyuki;
Imura, Takayuki;
Okada, Takamitsu;
Ueno, Masaki;
Saito, Wataru;
Takahashi, Kazuhisa;
Yamazaki, Masashi;
Ohtori, Seiji

Publication type:

Article

Genetics and Epigenetics of Progressive Fascioscapulohumeral (Landouzy–Dejerine) Muscular Dystrophy.

Published in:

Russian Journal of Genetics, 2003, v. 39, n. 2, p. 147, doi. 10.1023/A:1022471523757

By:

Petrov, A.;
Laoudj, D.;
Vassetzky, Ye.

Publication type:

Article

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Published in:

BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/3710814

By:

Xie, Zhiying;
Xiao, Jiangxi;
Zheng, Yiming;
Wang, Zhaoxia;
Yuan, Yun

Publication type:

Article

A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 595, doi. 10.3969/j.issn.1672-6731.2018.08.007

By:

WANG Liang;
LI Ya-qin;
ZHANG Hui-li;
ZHU Yu-ling;
HE Ruo-jie;
LI Huan;
LIN Jin-fu;
ZHANG Cheng

Publication type:

Article

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 514

By:

ZHANG Hui-li;
LI Ze;
CHENG Qiu-sheng;
CHEN Xi;
ZHU Yu-ling;
LI Ya-qin;
CHEN Meng-long;
ZHANG Cheng

Publication type:

Article

Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 506

By:

LI Huan;
ZHU Yu-ling;
LI Jing;
WANG Liang;
HE Ruo-jie;
LIN Jin-fu;
ZHANG Cheng

Publication type:

Article

Assignment<FOOTREF>[sup 1] </FOOTREF> of laminin alpha 2-chain gene (Lama2) to mouse chromosome 10A4–B1 by fluorescence in situ hybridization.

Published in:

Cytogenetics & Cell Genetics, 1999, v. 87, n. 3/4, p. 195, doi. 10.1159/000015464

By:

Sallinen, R.;
Kuang, W.;
Engvall, E.;
A. Paiotie, E.;
Wessman, M.;
Horelli-Kuitunen, N.

Publication type:

Article

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

Published in:

Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00077

By:

Umakhanova, Zoya R.;
Bardakov, Sergei N.;
Mavlikeev, Mikhail O.;
Chernova, Olga N.;
Magomedova, Raisat M.;
Akhmedova, Patimat G.;
Yakovlev, Ivan A.;
Dalgatov, Gimat D.;
Fedotov, Valerii P.;
Isaev, Artur A.;
Deev, Roman V.

Publication type:

Article

A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus.

Published in:

PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169189

By:

Barateau, Alice;
Vadrot, Nathalie;
Vicart, Patrick;
Ferreiro, Ana;
Mayer, Michèle;
Héron, Delphine;
Vigouroux, Corinne;
Buendia, Brigitte

Publication type:

Article

Identification of β-Dystrobrevin as a Direct Target of miR-143: Involvement in Early Stages of Neural Differentiation.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156325

By:

Quaranta, Maria Teresa;
Spinello, Isabella;
Paolillo, Rosa;
Macchia, Gianfranco;
Boe, Alessandra;
Ceccarini, Marina;
Labbaye, Catherine;
Macioce, Pompeo

Publication type:

Article

Neuronal Migration Disorders.

Published in:

Radiologic Technology, 2018, v. 89, n. 3, p. 279

By:

Roberts, Benjamin

Publication type:

Article

Cardiomypathy and Atrioventricular Block in Emery-Dreifuss Muscular Dystrophy.

Published in:

Angiology, 2002, v. 53, n. 1, p. 109, doi. 10.1177/000331970205300116

By:

Kanadas, Mehmet;
Demirtas, Mustafa;
Guzel, Rengin;
San, Mustafa;
Tuncer, Ilhan

Publication type:

Article

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.

Published in:

Journal of Neurology, 2017, v. 264, n. 7, p. 1320, doi. 10.1007/s00415-016-8350-6

By:

Leung, Doris

Publication type:

Article

Cardiac involvement in limb-girdle muscular dystrophy 2I.

Published in:

Journal of Neurology, 2006, v. 253, n. 10, p. 1317, doi. 10.1007/s00415-006-0213-0

By:

Gaul, C.;
Deschauer, M.;
Tempelmann, C.;
Vielhaber, S.;
Klein, H. U.;
Heinze, H. J.;
Zierz, S.;
Grothues, F.

Publication type:

Article

Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Published in:

Nature, 1992, v. 355, n. 6360, p. 548, doi. 10.1038/355548a0

By:

Aslanidis, C.;
Jansen, G.

Publication type:

Article

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0224-0

By:

Ruggieri, Alessandra;
Brancati, Francesco;
Zanotti, Simona;
Maggi, Lorenzo;
Pasanisi, Maria Barbara;
Saredi, Simona;
Terracciano, Chiara;
Antozzi, Carlo;
D'Apice, Maria Rosaria;
Sangiuolo, Federica;
Novelli, Giuseppe;
Marshall, Christian R.;
Scherer, Stephen W.;
Morandi, Lucia;
Federici, Luca;
Massa, Roberto;
Mora, Marina;
Minassian, Berge A.

Publication type:

Article

Exon-skipping events in candidates for clinical trials of morpholino.

Published in:

Pediatrics International, 2011, v. 53, n. 4, p. 524, doi. 10.1111/j.1442-200X.2011.03330.x

By:

Nakano, Shiho;
Ozasa, Shiro;
Yoshioka, Kowashi;
Fujii, Isao;
Mitsui, Kouichi;
Nomura, Keiko;
Kosuge, Hirofumi;
Endo, Fumio;
Matsukura, Makoto;
Kimura, Shigemi

Publication type:

Article

Calpains, skeletal muscle function and exercise.

Published in:

Clinical & Experimental Pharmacology & Physiology, 2010, v. 37, n. 3, p. 385, doi. 10.1111/j.1440-1681.2009.05310.x

By:

Murphy, Robyn M

Publication type:

Article

Neuronal expression of the fukutin gene.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 20, doi. 10.1093/hmg/9.20.3083

By:

Sasaki, Junko;
Ishikawa, Kinya;
Kobayashi, Kazuhiro;
Kondo-Iida, Eri;
Fukayama, Masahisa;
Mizusawa, Hidehiro;
Takashima, Sachio;
Sakakihara, Yoichi;
Nakamura, Yusuke;
Toda, Tatsushi

Publication type:

Article

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 19, p. 2879, doi. 10.1093/hmg/9.19.2879

By:

Overveld, Petra G.M. van;
Lemmers, Richard J.F.L.;
Deidda, Giancarlo;
Sandkuijl, Lodewijk;
Padberg, George W.;
Frants, Rune R.;
van der Maarel, Silvère M.

Publication type:

Article

Animal models for muscular dystrophy: valuable tools for the development of therapies.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2459

By:

Allamand, Valérie

Publication type:

Article

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2335, doi. 10.1093/oxfordjournals.hmg.a018926

By:

Herrmann, Ralf

Publication type:

Article

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 14, p. 2141, doi. 10.1093/hmg/9.14.2141

By:

Hauser, Michael A.

Publication type:

Article

Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1357

By:

Rafael, Jill A.

Publication type:

Article

Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1393

By:

Tagawa, Kazuhiko;
Taya, Choji;
Hayashi, Yukiko;
Nakagawa, Masahiro;
Ono, Yasuko;
Fukuda, Rie;
Karasuyama, Hajime;
Toyama-Sorimachi, Noriko;
Katsui, Yukiko;
Hata, Shoji;
Ishiura, Shoichi;
Nonaka, Ikuya;
Seyama, Yosuke;
Arahata, Kiichi;
Yonekawa, Hiromichi;
Sorimachi, Hiroyuki

Publication type:

Article

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1453

By:

Muchir, Antoine

Publication type:

Article