Works matching Myotonia atrophica

Results: 1132

Increased Plasma Concentration of Atrial Natriuretic Hormone in Myotonic Dystrophy.

Published in:

European Neurology, 1998, v. 39, n. 4, p. 238, doi. 10.1159/000007941

By:

Parlapiano;
Antonini;
Vichi;
Fragola;
Campana;
Rota;
Borgia;
Tonnarini;
Negri

Publication type:

Article

Multisystem Symptoms in Myotonic Dystrophy Type 1: A Management and Therapeutic Perspective.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5350, doi. 10.3390/ijms26115350

By:

Kuntawala, Dhvani H.;
Vitorino, Rui;
Cruz, Ana C.;
Martins, Filipa;
Rebelo, Sandra

Publication type:

Article

Neurological and Neuromuscular Disorders Dental Hygiene Care for Special Patients.

Published in:

Journal of the California Dental Hygienists' Association, 2013, v. 29, n. 2, p. 6

By:

Kawahara, Donna

Publication type:

Article

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 55, doi. 10.1007/s10048-003-0168-6

By:

Jakubiczka, Sibylle;
Vielhaber, Stefan;
Kress, Wolfram;
Küpferling, Peter;
Reuner, Ulrike;
Kunath, Bernhard;
Wieacker, Peter

Publication type:

Article

Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 8, p. 712, doi. 10.1038/nsmb.2858

By:

Garcia, Susana M D A;
Tabach, Yuval;
Lourenço, Guinevere F;
Armakola, Maria;
Ruvkun, Gary

Publication type:

Article

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 840, doi. 10.1038/nsmb.2067

By:

Rau, Frédérique;
Freyermuth, Fernande;
Fugier, Charlotte;
Villemin, Jean-Philippe;
Fischer, Marie-Christine;
Jost, Bernard;
Dembele, Doulaye;
Gourdon, Geneviève;
Nicole, Annie;
Duboc, Denis;
Wahbi, Karim;
Day, John W.;
Fujimura, Harutoshi;
Takahashi, Masanori P.;
Auboeuf, Didier;
Dreumont, Natacha;
Furling, Denis;
Charlet-Berguerand, Nicolas

Publication type:

Article

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs.

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 1, p. 85, doi. 10.1038/nsmb.1958

By:

François, Virginie;
Klein, Arnaud F;
Beley, Cyriaque;
Jollet, Arnaud;
Lemercier, Camille;
Garcia, Luis;
Furling, Denis

Publication type:

Article

Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 9, p. 1079, doi. 10.1038/nsmb.1876

By:

Cleary, John D;
Tomé, Stéphanie;
López Castel, Arturo;
Panigrahi, Gagan B;
Foiry, Laurent;
Hagerman, Katharine A;
Sroka, Hana;
Chitayat, David;
Gourdon, Geneviève;
Pearson, Christopher E

Publication type:

Article

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 187, doi. 10.1038/nsmb.1720

By:

Hongqing Du;
Cline, Melissa S.;
Osborne, Robert J.;
Tuttle, Daniel L.;
Clark, Tyson A.;
Donohue, John Paul;
Hall, Megan P.;
Shiue, Lily;
Swanson, Maurice S.;
Thornton, Charles A.;
Ares, Jr, Manuel

Publication type:

Article

Two ways to misregulate mRNAs in myotonic dystrophy.

Published in:

Nature Structural & Molecular Biology, 2010, v. 17, n. 2, p. 141, doi. 10.1038/nsmb0210-141

By:

Voelker, Rodger B.;
Berglund, J. Andrew

Publication type:

Article

Diagnostic Crossroads: Coexistence of Myotonic Dystrophy Type 1 and Hirayama Disease in a Case Report.

Published in:

2025

By:

Dudhatra, Ashutosh V.;
Arora, Ronak K.;
Poncha, Fali F.

Publication type:

Letter

Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.

Published in:

Neurology India, 2024, v. 72, n. 1, p. 83, doi. 10.4103/neuroindia.NI_1432_20

By:

Chawla, Tanushree;
Reddy, Nishanth;
Jankar, Rahul;
Vengalil, Seena;
Polavarapu, Kiran;
Arunachal, Gautham;
Preethish-Kumar, Veeramani;
Nashi, Saraswati;
Bardhan, Mainak;
Rajeshwaran, Jamuna;
Afsar, Mohammad;
Warrier, Manjusha;
Thomas, Priya;
Thennarasu, Kandavel;
Nalini, Atchayaram

Publication type:

Article

Ovarian response in preimplantation genetic testing for myotonic dystrophy type 1.

Published in:

Journal of Assisted Reproduction & Genetics, 2025, v. 42, n. 1, p. 185, doi. 10.1007/s10815-024-03324-1

By:

Sonigo, Charlotte;
Ranisavljevic, Noémie;
Guigui, Mathilde;
Anahory, Tal;
Mayeur, Anne;
Moutou, Céline;
Rongières, Catherine;
Reignier, Arnaud;
Leperlier, Florence;
Melaye, Gaelle;
Girardet, Anne;
Ray, Pierre F;
Steffann, Julie;
Pirrello, Olivier;
Grynberg, Michaël

Publication type:

Article

The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract.

Published in:

Journal of Assisted Reproduction & Genetics, 2010, v. 27, n. 6, p. 327, doi. 10.1007/s10815-010-9392-9

By:

Verpoest, Willem;
Seneca, Sara;
De Rademaeker, Marjan;
Sermon, Karen;
De Rycke, Martine;
De Vos, Michel;
Haentjens, Patrick;
Devroey, Paul;
Liebaers, Ingeborg

Publication type:

Article

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I.

Published in:

Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 1, p. 1, doi. 10.1007/s10815-007-9193-y

By:

Sahu, Banchhita;
Ozturk, Ozkan;
Deo, Nandita;
Fordham, Karen;
Ranierri, Massimo;
Serhal, Paul

Publication type:

Article

The Dimeric Form of 1,3‐Diaminoisoquinoline Derivative Rescued the Mis‐splicing of Atp2a1 and Clcn1 Genes in Myotonic Dystrophy Type 1 Mouse Model.

Published in:

Chemistry - A European Journal, 2020, v. 26, n. 63, p. 14305, doi. 10.1002/chem.202001572

By:

Matsumoto, Jun;
Nakamori, Masayuki;
Okamoto, Tatsumasa;
Murata, Asako;
Dohno, Chikara;
Nakatani, Kazuhiko

Publication type:

Article

Sternal Gap Syndrome Caused by Improperly Fitted Body Armor: A Preventable Military Injury.

Published in:

Medical Journal, US Army Medical Center of Excellence (MEDCoE), 2022, p. 82

By:

Wongmek, Arada;
Kassar, Darine;
Parry, Matthew;
Scully, Shawna

Publication type:

Article

Coexistence of anti-musk-positive bulbar myasthenia gravis and myotonic dystrophy Type 1: the first case report from Türkiye.

Published in:

Pamukkale Medical Journal, 2024, v. 17, n. 4, p. 804, doi. 10.31362/patd.1434678

By:

Ünal, Esra Demir

Publication type:

Article

Optical Coherence Tomography Findings in Patients with Myotonic Dystrophy Type 1.

Published in:

European Archives of Medical Research, 2021, v. 37, n. 3, p. 178, doi. 10.4274/eamr.galenos.2021.53315

By:

Akan, Onur;
Erden, Burak

Publication type:

Article

Mbnl1 and Mbnl2 regulate brain structural integrity in mice.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02845-0

By:

Sta Maria, Naomi S.;
Zhou, Chenyu;
Lee, Se Jung;
Valiulahi, Parvin;
Li, Xiandu;
Choi, Jongkyu;
Liu, Xiaodan;
Jacobs, Russell;
Comai, Lucio;
Reddy, Sita

Publication type:

Article

Cancer Risk in Myotonic Dystrophy Type I: Evidence of a Role for Disease Severity.

Published in:

JNCI Cancer Spectrum, 2018, v. 2, n. 4, p. N.PAG, doi. 10.1093/jncics/pky052

By:

Alsaggaf, Rotana;
George, Diane Marie M St.;
Zhan, Min;
Pfeiffer, Ruth M;
Wang, Youjin;
Wagner, Kathryn R;
Greene, Mark H;
Amr, Sania;
Gadalla, Shahinaz M

Publication type:

Article

RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 12, p. 3175, doi. 10.1002/acn3.52224

By:

Hartman, Julia M.;
Ikegami, Kobe;
Provenzano, Marina;
Bates, Kameron;
Butler, Amanda;
Jones, Aileen S.;
Berggren, Kiera N.;
Dekdebrun, Jeanne;
McKay, Marnee J.;
Baldwin, Jennifer N.;
Cornett, Kayla M. D.;
Burns, Joshua;
Kiefer, Michael;
Johnson, Nicholas E.;
Hale, Melissa A.

Publication type:

Article

Corrigendum.

Published in:: 2021
Publication type:: Correction Notice

Responsiveness of outcome measures in myotonic dystrophy type 1.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1382, doi. 10.1002/acn3.51129

By:

Knak, Kirsten L.;
Sheikh, Aisha M.;
Witting, Nanna;
Vissing, John

Publication type:

Article

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 126, doi. 10.1002/acn3.50954

By:

Wang, Youjin;
Best, Ana;
Fernández‐Torrón, Roberto;
Alsaggaf, Rotana;
Garcia‐Puga, Mikel;
Dagnall, Casey L.;
Hicks, Belynda;
Thompson, Mone't;
Matheu Fernandez, Ander;
Zulaica Ijurco, Miren;
Greene, Mark H.;
Lopez de Munain, Adolfo;
Gadalla, Shahinaz M.

Publication type:

Article

Analysis of the functional capacity outcome measures for myotonic dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1487, doi. 10.1002/acn3.50845

By:

Jimenez‐Moreno, Aura Cecilia;
Nikolenko, Nikoletta;
Kierkegaard, Marie;
Blain, Alasdair P.;
Newman, Jane;
Massey, Charlotte;
Moat, Dionne;
Sodhi, Jas;
Atalaia, Antonio;
Gorman, Grainne S.;
Turner, Chris;
Lochmüller, Hanns

Publication type:

Article

Benign tumors in myotonic dystrophy type I target disease‐related cancer sites.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1510, doi. 10.1002/acn3.50856

By:

Alsaggaf, Rotana;
St. George, Diane Marie M.;
Zhan, Min;
Pfeiffer, Ruth M.;
Wang, Youjin;
Anderson, Lesley A.;
Liu, Zhiwei;
Koshiol, Jill;
Bauer, Andrew J.;
Wagner, Kathryn R.;
Greene, Mark H.;
Amr, Sania;
Gadalla, Shahinaz M.

Publication type:

Article

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 921, doi. 10.1002/acn3.496

By:

Hogrel, Jean‐Yves;
Ollivier, Gwenn;
Ledoux, Isabelle;
Hébert, Luc J.;
Eymard, Bruno;
Puymirat, Jack;
Bassez, Guillaume

Publication type:

Article

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 42, doi. 10.1002/acn3.271

By:

Nakamori, Masayuki;
Taylor, Katarzyna;
Mochizuki, Hideki;
Sobczak, Krzysztof;
Takahashi, Masanori P.

Publication type:

Article

Arrhythmic risk evaluation in myotonic dystrophy: the importance of selection criteria and methodological approach.

Published in:

2017

By:

Russo, Vincenzo;
Papa, Andrea;
Rago, Anna;
Nigro, Gerardo

Publication type:

Letter

Cardiac autonomic function in type 1 and type 2 myotonic dystrophy.

Published in:

Clinical Autonomic Research, 2017, v. 27, n. 3, p. 193, doi. 10.1007/s10286-017-0413-y

By:

Bienias, Piotr;
Łusakowska, Anna;
Ciurzyński, Michał;
Rymarczyk, Zuzanna;
Irzyk, Katarzyna;
Konwerski, Michał;
Ciąpała, Kamil;
Kowalski, Paweł;
Kamińska, Anna;
Pruszczyk, Piotr

Publication type:

Article

Gastroparesis in myotonic dystrophy 1.

Published in:

Clinical Autonomic Research, 2011, v. 21, n. 2, p. 125, doi. 10.1007/s10286-010-0097-z

By:

Haensch, Carl-Albrecht;
Wehe, J.;
Jigalin, A.;
Isenmann, S.

Publication type:

Article

A study of the facilitation of respiration in myotonic dystrophy.

Published in:

Physiotherapy Research International, 2002, v. 7, n. 4, p. 228, doi. 10.1002/pri.262

By:

Nitz, Jennifer;
Burke, Brandon

Publication type:

Article

Myotonic dystrophy type 1: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 8, p. 765, doi. 10.3969/j.issn.1672-6731.2023.08.017

By:

WU Xu-ling;
ZHANG An-ni;
LEI Xiao-yang;
FENG Zhan-hui;
WANG Wei;
HE Dian

Publication type:

Article

Dystrophia myotonia type 1 with excessive daytime sleepiness: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 7, p. 659, doi. 10.3969/j.issn.1672-6731.2020.07.018

By:

ZHANG Rui-rui;
WANG Sheng-hui;
BAI Ying-ying;
ZHANG Jie-wen;
ZHANG Hong-ju

Publication type:

Article

Monocyte IgG-Fc receptors in myotonic dystrophy.

Published in:

Clinical & Experimental Immunology, 1982, v. 49, n. 3, p. 572

By:

Banerjee, D.;
McClintock, J.;
Silver, M.M.;
Hudson, A.J.

Publication type:

Article

Neurofibrillary tangles in the peripheral sympathetic ganglia of patients with myotonic dystrophy.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 5, p. 585, doi. 10.1111/nan.12043

By:

Kuru, S.;
Sakai, M.;
Yoshida, M.;
Mimuro, M.;
Hashizume, Y.

Publication type:

Article

Altered expression and splicing of Ca<sup>2+</sup> metabolism genes in myotonic dystrophies DM1 and DM2.

Published in:

Neuropathology & Applied Neurobiology, 2013, v. 39, n. 4, p. 390, doi. 10.1111/j.1365-2990.2012.01289.x

By:

Vihola, A.;
Sirito, M.;
Bachinski, L. L.;
Raheem, O.;
Screen, M.;
Suominen, T.;
Krahe, R.;
Udd, B.

Publication type:

Article

The myotonic dystrophy type 2 ( DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.

Published in:

Neuropathology & Applied Neurobiology, 2010, v. 36, n. 4, p. 275, doi. 10.1111/j.1365-2990.2010.01068.x

By:

Massa, R.;
Panico, M. B.;
Caldarola, S.;
Fusco, F. R.;
Sabatelli, P.;
Terracciano, C.;
Botta, A.;
Novelli, G.;
Bernardi, G.;
Loreni, F.

Publication type:

Article

Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1.

Published in:

Neuropathology & Applied Neurobiology, 2009, v. 35, n. 6, p. 603, doi. 10.1111/j.1365-2990.2009.01014.x

By:

Thornell, L.-E.;
Lindstöm, M.;
Renault, V.;
Klein, A.;
Mouly, V.;
Ansved, T.;
Butler-Browne, G.;
Furling, D.

Publication type:

Article

Multiple pilomatrixomas as a presentation of myotonic dystrophy.

Published in:

2019

By:

Kentley, J.;
Nasir, S.;
Lloyd, K.;
Markiewicz, D.;
Harwood, C. A.

Publication type:

Case Study

Myotonic dystrophy and basal cell carcinomas: coincidence or true association?

Published in:

2009

By:

Goolamali, S. I.;
Edmonds, E. V. J.;
Francis, N.;
Bunker, C. B.

Publication type:

Letter

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates.

Published in:

2008

By:

Laugel, Vincent;
Cossée, Mireille;
Matis, Jacqueline;
De Saint-Martin, Anne;
Echaniz-Laguna, Andoni;
Mandel, Jean-Louis;
Astruc, Dominique;
Fischbach, Michel;
Messer, Jean;
Cossée, Mireille

Publication type:

journal article

Lower gastrointestinal tract disturbance in congenital myotonic dystrophy.

Published in:

2002

By:

Kerr, Tim P.;
Robb, Stephanie A.;
Clayden, Graham S.

Publication type:

Letter

Approved and Investigational Uses of Modafinil: An Evidence-Based Review.

Published in:

Drugs, 2008, v. 68, n. 11, p. 1803, doi. 10.2165/00003495-200868130-00003

By:

Kumar, Raminder

Publication type:

Article

Trunk muscle dysfunction in patients with myotonic dystrophy type 2 and its contribution to chronic low back pain.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1258342

By:

Vlazna, Daniela;
Krkoska, Peter;
Sladeckova, Michaela;
Parmova, Olesja;
Barusova, Tamara;
Hrabcova, Karolina;
Vohanka, Stanislav;
Matulova, Katerina;
Adamova, Blanka

Publication type:

Article

Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases.

Published in:

American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.919867

By:

Gupta, Kunal;
Kennelly, Marie R.;
Siddappa, Ashajyothi M.

Publication type:

Article

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.

Published in:

2025

By:

Doss, Rose M.;
Lopez-Ignacio, Susana;
Dischler, Anna;
Hiatt, Laurel;
Dashnow, Harriet;
Breuss, Martin W.;
Dias, Caroline M.

Publication type:

Literature Review

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.

Published in:

Genes, 2022, v. 13, n. 8, p. 1465, doi. 10.3390/genes13081465

By:

Han, Ji Yoon;
Jang, Woori;
Park, Joonhong

Publication type:

Article

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.

Published in:

Genes, 2022, v. 13, n. 6, p. 970, doi. 10.3390/genes13060970

By:

Rasmussen, Astrid;
Hildonen, Mathis;
Vissing, John;
Duno, Morten;
Tümer, Zeynep;
Birkedal, Ulf

Publication type:

Article