Works matching Myotonic dystrophy

Results: 2386
    1
    2
    3
    4
    5

    Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy.

    Published in:
    Journal of Clinical Medicine, 2024, v. 13, n. 18, p. 5459, doi. 10.3390/jcm13185459
    By:
    • Trucco, Federica;
    • Lizio, Andrea;
    • Roma, Elisabetta;
    • di Bari, Alessandra;
    • Salmin, Francesca;
    • Albamonte, Emilio;
    • Casiraghi, Jacopo;
    • Pozzi, Susanna;
    • Becchiati, Stefano;
    • Antonaci, Laura;
    • Salvalaggio, Anna;
    • Catteruccia, Michela;
    • Tosi, Michele;
    • Marinella, Gemma;
    • Danti, Federica R.;
    • Bruschi, Fabio;
    • Veneruso, Marco;
    • Parravicini, Stefano;
    • Fiorillo, Chiara;
    • Berardinelli, Angela
    Publication type:
    Article
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16
    17
    18
    19
    20
    21
    22
    23

    Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.

    Published in:
    Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-023-02673-y
    By:
    • Kleefeld, Felix;
    • Horvath, Rita;
    • Pinal-Fernandez, Iago;
    • Mammen, Andrew L.;
    • Casal-Dominguez, Maria;
    • Hathazi, Denisa;
    • Melchert, Sarah;
    • Hahn, Katrin;
    • Sickmann, Albert;
    • Muselmann-Genschow, Claudia;
    • Hentschel, Andreas;
    • Preuße, Corinna;
    • Roos, Andreas;
    • Schoser, Benedikt;
    • Stenzel, Werner
    Publication type:
    Article
    24

    Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.

    Published in:
    Acta Neuropathologica, 2010, v. 119, n. 4, p. 465, doi. 10.1007/s00401-010-0637-6
    By:
    • Vihola, Anna;
    • Bachinski, Linda L.;
    • Sirito, Mario;
    • Olufemi, Shodimu-Emmanuel;
    • Hajibashi, Shohrae;
    • Baggerly, Keith A.;
    • Raheem, Olayinka;
    • Haapasalo, Hannu;
    • Suominen, Tiina;
    • Holmlund-Hampf, Jeanette;
    • Paetau, Anders;
    • Cardani, Rosanna;
    • Meola, Giovanni;
    • Kalimo, Hannu;
    • Edström, Lars;
    • Krahe, Ralf;
    • Udd, Bjarne
    Publication type:
    Article
    25
    26
    27
    28

    An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.

    Published in:
    Neuroepidemiology, 2016, v. 46, n. 3, p. 191, doi. 10.1159/000444018
    By:
    • Vanacore, Nicola;
    • Rastelli, Emanuele;
    • antonini, Giovanni;
    • Bianchi, Maria Laura Ester;
    • Botta, annalisa;
    • Bucci, Elisabetta;
    • Casali, Carlo;
    • Costanzi-Porrini, Sandro;
    • Giacanelli, Manlio;
    • Gibellini, Manuela;
    • Modoni, anna;
    • Novelli, Giuseppe;
    • Pennisi, Elena Maria;
    • Petrucci, antonio;
    • Piantadosi, Carlo;
    • Silvestri, Gabriella;
    • Terracciano, Chiara;
    • Massa, Roberto
    Publication type:
    Article
    29
    30

    Muscle‐specific gene editing improves molecular and phenotypic defects in a mouse model of myotonic dystrophy type 1.

    Published in:
    Clinical & Translational Medicine, 2025, v. 15, n. 2, p. 1, doi. 10.1002/ctm2.70227
    By:
    • Izzo, Mariapaola;
    • Battistini, Jonathan;
    • Golini, Elisabetta;
    • Voellenkle, Christine;
    • Provenzano, Claudia;
    • Orsini, Tiziana;
    • Strimpakos, Georgios;
    • Scavizzi, Ferdinando;
    • Raspa, Marcello;
    • Baci, Denisa;
    • Frolova, Svetlana;
    • Tastsoglou, Spyros;
    • Zaccagnini, Germana;
    • Garcia‐Manteiga, Jose Manuel;
    • Gourdon, Genevieve;
    • Mandillo, Silvia;
    • Cardinali, Beatrice;
    • Martelli, Fabio;
    • Falcone, Germana
    Publication type:
    Article
    31
    32

    MYOTONIC DYSTROPHY - A REVIEW.

    Published in:
    International Journal of Pharmaceutical, Chemical & Biological Sciences, 2015, v. 5, n. 3, p. 719
    By:
    • George, Laigy Ann
    Publication type:
    Article
    33
    34

    Diabetes, metformin and cancer risk in myotonic dystrophy type I.

    Published in:
    International Journal of Cancer, 2020, v. 147, n. 3, p. 785, doi. 10.1002/ijc.32801
    By:
    • Alsaggaf, Rotana;
    • Pfeiffer, Ruth M.;
    • Wang, Youjin;
    • St. George, Diane Marie M.;
    • Zhan, Min;
    • Wagner, Kathryn R.;
    • Amr, Sania;
    • Greene, Mark H.;
    • Gadalla, Shahinaz M.
    Publication type:
    Article
    35
    36
    37
    38
    39
    40
    41

    A Greek National Cross-Sectional Study on Myotonic Dystrophies.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15507, doi. 10.3390/ijms232415507
    By:
    • Papadimas, Georgios K.;
    • Papadopoulos, Constantinos;
    • Kekou, Kyriaki;
    • Kartanou, Chrisoula;
    • Kladi, Athina;
    • Nitsa, Evangelia;
    • Sofocleous, Christalena;
    • Tsanou, Evangelia;
    • Sarmas, Ioannis;
    • Kaninia, Stefania;
    • Chroni, Elisabeth;
    • Tsivgoulis, Georgios;
    • Kimiskidis, Vasilios;
    • Arnaoutoglou, Marianthi;
    • Stefanis, Leonidas;
    • Panas, Marios;
    • Koutsis, Georgios;
    • Karadima, Georgia;
    • Traeger-Synodinos, Joanne
    Publication type:
    Article
    42
    43
    44

    Targeting Myotonic Dystrophy Type 1 with Metformin.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2901, doi. 10.3390/ijms23052901
    By:
    • García-Puga, Mikel;
    • Saenz-Antoñanzas, Ander;
    • Matheu, Ander;
    • López de Munain, Adolfo
    Publication type:
    Article
    45
    46
    47
    48
    49
    50