Works matching DE "MUSCULAR dystrophy genetics"

Results: 119

Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene.

Published in:

Nature, 1996, v. 384, n. 6607, p. 349, doi. 10.1038/384349a0

By:

Tinsley, Jonathon M.;
Potter, Allyson C.

Publication type:

Article

Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity.

Published in:

Nature, 1993, v. 364, n. 6439, p. 725, doi. 10.1038/364725a0

By:

Cox, Gregory A.;
Cole, Neil M.

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

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 68, doi. 10.14744/TurkPediatriArs.2020.37880

By:

Yıldırım, Miraç;
Eker, Hatice Koçak;
Doğan, Melih Timuçin

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

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

Clinical aspects of Emery-Dreifuss muscular dystrophy.

Published in:

Nucleus (1949-1034), 2018, v. 9, n. 1, p. 314, doi. 10.1080/19491034.2018.1462635

By:

Madej-Pilarczyk, Agnieszka

Publication type:

Article

A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report.

Published in:

Turkish Journal of Neurology / Turk Noroloji Dergisi, 2023, v. 29, n. 1, p. 79, doi. 10.4274/tnd.2022.44788

By:

Yılmaz Çakan, Gülce Coşku;
Bölük, Ebru;
Seçil, Yaprak;
Subaşıoğlu, Aslı;
Tosun, Özgür

Publication type:

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

Uticaj životnog doba na rasprostranjenost i simptomatologiju kraniomandibularnih disfunkcija.

Published in:

Serbian Dental Journal / Stomatološki Glasnik Srbije, 2010, v. 57, n. 3, p. 152

By:

Marković, Dubravka;
Jeremić-Kneževic, Milica;
Milekić, Bojana;
Ðurovic-Koprivica, Daniela

Publication type:

Article

Merosin‑negative congenital muscular dystrophy: Report of five cases.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 4, p. 346, doi. 10.4103/1817-1745.174432

By:

Incecik, Faruk;
Herguner, Ozlem M.;
Altunbasak, Sakir;
Ceylaner, Serdar

Publication type:

Article

Genetic Counseling and Testing for FSHD (Facioscapulohumeral Muscular Dystrophy) in the Israeli Population.

Published in:

Journal of Genetic Counseling, 2012, v. 21, n. 4, p. 557, doi. 10.1007/s10897-011-9422-5

By:

Yanoov-Sharav, Miri;
Leshinsky-Silver, Esther;
Cohen, Sarit;
Vinkler, Chana;
Michelson, Marina;
Lerman-Sagie, Tally;
Ginzberg, Mira;
Sadeh, Menahem;
Lev, Dorit

Publication type:

Article

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy.

Published in:

Annals of Neurology, 2011, v. 69, n. 1, p. 206, doi. 10.1002/ana.22283

By:

Foley, A. Reghan;
Ying Hu;
Yaqun Zou;
Yang, Michele;
Medne, Līvija;
Leach, Meganne;
Conlin, Laura K.;
Spinner, Nancy;
Shaikh, Tamim H.;
Falk, Marni;
Neumeyer, Ann M.;
Bliss, Laurie;
Tseng, Brian S.;
Winder, Thomas L.;
Bönnemann, Carsten G.

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

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

A novel insert mutation in γ-sarcoglycan gene leads to severe childhood autosomal recessive muscular dystrophy.

Published in:

Journal of Neurology, 2002, v. 249, n. 11, p. 1608, doi. 10.1007/s00415-002-0873-3

By:

Lin, S.;
Ramelli, G.P.;
Moser, H.;
Gallati, S.;
Burgunder, J.-M.

Publication type:

Article

Muscular dystrophies: An Indian scenario.

Published in:

2017

By:

Nalini, Atchayaram;
Polavarapu, Kiran;
Preethish-Kumar, Veeramani

Publication type:

journal article

Limb girdle muscular dystrophies in India.

Published in:

2015

By:

Khadilkar, Satish V.

Publication type:

Editorial

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 13, doi. 10.1007/s00439-004-1118-6

By:

Cagliani, Rachele;
Sironi, Manuela;
Ciafaloni, Emma;
Bardoni, Alessandra;
Fortunato, Francesco;
Prelle, Alessandro;
Serafini, Massimo;
Bresolin, Nereo;
Comi, Giacomo P.

Publication type:

Article

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735

By:

Yis, Uluç;
Baydan, Figen;
Karakaya, Mert;
Hız Kurul, Semra;
Cirak, Sebahattin

Publication type:

Article

Genetic Engineering of Dystroglycan in Animal Models of Muscular Dystrophy.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/635792

By:

Sciandra, Francesca;
Bigotti, Maria Giulia;
Giardina, Bruno;
Bozzi, Manuela;
Brancaccio, Andrea

Publication type:

Article

Biochemical and Functional Comparisons of mdx and Sgcg<sup>−/−</sup> Muscular Dystrophy Mouse Models.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/131436

By:

Roberts, Nathan W.;
Holley-Cuthrell, Jenan;
Gonzalez-Vega, Magdalis;
Mull, Aaron J.;
Heydemann, Ahlke

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

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

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

Clinical and Genetic Characterizations to Diagnose Sarcoglycanopathies.

Published in:

Neurology Alert, 2021, v. 40, n. 6, p. 1

By:

AHC MEDIA

Publication type:

Article

Distinct Effects of Contraction-Induced Injury In Vivo on Four Different Murine Models of Dysferlinopathy.

Published in:

Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/134031

By:

Roche, Joseph A.;
Ru, Lisa W.;
Bloch, Robert J.

Publication type:

Article

The mec-8 gene of Caenorhabditis elegans affects muscle mand sensory neuron function and...

Published in:

Genetics, 1994, v. 138, n. 1, p. 83, doi. 10.1093/genetics/138.1.83

By:

Lundquist, Erik A.;
Herman, Robert K.

Publication type:

Article

Spontaneous resolution of retinal vascular abnormalities and macular oedema in facioscapulohumeral muscular dystrophy.

Published in:

Clinical & Experimental Ophthalmology, 2016, v. 44, n. 7, p. 627, doi. 10.1111/ceo.12735

By:

Lindner, Moritz;
Holz, Frank G;
Charbel Issa, Peter

Publication type:

Article

Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions Ascaso et al. Maculopathy in Kearns-Sayre syndrome.

Published in:

Clinical & Experimental Ophthalmology, 2010, v. 38, n. 8, p. 812, doi. 10.1111/j.1442-9071.2010.02335.x

By:

Ascaso, Francisco J.;
Lopez-Gallardo, Ester;
Del Prado, Eduardo;
Ruiz-Pesini, Eduardo;
Montoya, Julio

Publication type:

Article

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 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

Functional Foods, a Hope to Delay Muscle Dystrophy Progression: A Potential Role for Omega Fatty Acids.

Published in:

Nutrients, 2025, v. 17, n. 6, p. 1039, doi. 10.3390/nu17061039

By:

Versari, Ilaria;
Bavelloni, Alberto;
Traversari, Mirko;
Burattini, Sabrina;
Battistelli, Michela;
Gobbi, Pietro;
Faenza, Irene;
Salucci, Sara

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

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.

Published in:

Nature Medicine, 2014, v. 20, n. 9, p. 992, doi. 10.1038/nm.3628

By:

Wein, Nicolas;
Vulin, Adeline;
Falzarano, Maria S;
Szigyarto, Christina Al-Khalili;
Maiti, Baijayanta;
Findlay, Andrew;
Heller, Kristin N;
Uhlén, Mathias;
Bakthavachalu, Baskar;
Messina, Sonia;
Vita, Giuseppe;
Passarelli, Chiara;
Gualandi, Francesca;
Wilton, Steve D;
Rodino-Klapac, Louise R;
Yang, Lin;
Dunn, Diane M;
Schoenberg, Daniel R;
Weiss, Robert B;
Howard, Michael T

Publication type:

Article

Distrophinopathy: A rare cause of elevated transaminase in newborn.

Published in:

2011

By:

Dorum, Bayram Ali;
Silfeler, Ibrahim;
Canbak, Yekta;
Acar, Yesim

Publication type:

Case Study

Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.

Published in:

PLoS Genetics, 2017, v. 13, n. 10, p. 1, doi. 10.1371/journal.pgen.1007070

By:

Quattrocelli, Mattia;
Capote, Joanna;
Ohiri, Joyce C.;
Warner, James L.;
Vo, Andy H.;
Earley, Judy U.;
Hadhazy, Michele;
Demonbreun, Alexis R.;
Spencer, Melissa J.;
McNally, Elizabeth M.

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

M-quantile Regression Analysis of Temporal Gene Expression Data.

Published in:

Statistical Applications in Genetics & Molecular Biology, 2009, v. 8, n. 1, p. 1, doi. 10.2202/1544-6115.1452

By:

Vinciotti, Veronica;
Yu, Keming

Publication type:

Article

Extreme Maternal Metabolic Acidosis Leading to Fetal Distress and Emergency Caesarean Section.

Published in:

Case Reports in Obstetrics & Gynecology, 2013, p. 1, doi. 10.1155/2013/847942

By:

Cecere, Nicolas;
Hubinont, Corinne;
Kadingi, Arnauld Kabulu;
Vincent, Marie-Françoise;
Van den Bergh, Peter;
Onnela, Anna;
Hantson, Philippe

Publication type:

Article

Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).

Published in:

Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812

By:

Swaika, Abhisek;
Boczek, Nicole J.;
Sood, Neha;
Guthrie, Kimberly;
Klee, Eric W.;
Agrawal, Ankit;
Dimberg, Elliot L.;
Ailawadhi, Sikander

Publication type:

Article

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies.

Published in:

Skeletal Muscle, 2016, p. 1, doi. 10.1186/s13395-016-0073-y

By:

Jihee Kim;
Hopkinson, Mark;
Kavishwar, Manoli;
Fernandez-Fuente, Marta;
Brown, Susan Carol

Publication type:

Article