Results 11 to 20 of about 34,474,015 (115)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]

, 2000
The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Martorell, L., Monckton, D.G., Loreto Martorell, José Gamez, Gamez, J., Baiget, M., Darren G Monckton, Montserrat Baiget   +7 more
core   +8 more sources

El sistema hipocretina / orexina en la fisiopatología de las hipersomnias de origen central [PDF]

, 2007
[spa] INTRODUCCIÓN. El sistema hipocretina/orexina es un sistema neurotransmisor hipotalámico con funciones promotoras de la vigilia. La narcolepsia, enfermedad caracterizada por una excesiva somnolencia diurna y manifestaciones anormales del sueño REM ...
Martínez Rodríguez, José Enrique
core   +6 more sources

Role of Myotonic Dystrophy Protein Kinase [DMPK] in Glucose Homeostasis and Muscle Insulin Action [PDF]

, 2007
Myotonic dystrophy 1 (DM1) is caused by a CTG expansion in the 3′-unstranslated region of the DMPK gene, which encodes a serine/threonine protein kinase. One of the common clinical features of DM1 patients is insulin resistance, which has been associated
Liesa Marc, Ciaraldi, Theodore P, Martí, Luc, Ciaraldi, Theodore P., Palacin, Manuel, Catalucci, Daniele, Wolfgang H Dillmann, Esther Llagostera, Perla Kaliman, Catalucci Daniele, Camps, Marta, Reddy, Sita, Gomis, Ramon, 1946-, Luc Marti, Llagostera Martín, Esther, Antonio Zorzano, Ciaraldi Theodore P., Dillmann, Wolfgang H, Llagostera Esther, Gomis Ramon, Reddy Sita, Camps Marta, Dillmann, Wolfgang H., Kaliman Perla, Sita Reddy, Kaliman, Perla, Ruiz-Lozano Pilar, Llagostera, Esther, Richard Kondo, Ruiz-Lozano, Pilar, Zorzano Olarte, Antonio, Manuel Palacin, Zorzano Antonio, Kondo, Richard, Palacín Prieto, Manuel, Ramon Gomis, Daniele Catalucci, Liesa Torre-Marín, Montserrat, Dillmann Wolfgang H., Marti Luc, Camps Camprubí, Marta, Zorzano, Antonio, Marta Camps, Pilar Ruiz-Lozano, Liesa, Marc, Kondo Richard, Gomis, Ramon, Marc Liesa, Theodore P Ciaraldi, Palacin Manuel   +49 more
core   +2 more sources

Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

Frontiers in Cellular Neuroscience, 2017
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon, Genevieve Gourdon, Giovanni Meola   +2 more
doaj   +1 more source

Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1 [PDF]

, 2014
This work is supported by the Scottish Universities Life Science Alliance (SULSA) and the Biotechnology and Biological Sciences Research Council (BBSRC) via a Ph.D.
Coleman, Stewart, Sleeman, Judith E., Coleman, Stewart M., Prescott, Alan R., Sleeman, Judith Elizabeth, Prescott, Alan R.; id_orcid   +5 more
core   +1 more source

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, 2021
Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
doaj   +1 more source

Myotonic dystrophy type 1: case report of a colombian patient [PDF]

, 2016
Introducción: La distrofia miotónica es una enfermedad poco frecuente de origen genético. Se produce por aumento de repeticiones de la tripleta CTG en el gen DMPK (locus 19q13.32), o por aumento de repeticiones de CCTG en el gen ZNF9 (locus3q21.3).
Isaza, Carolina, Ramírez-C, Julián, Saldarriaga, Wilmar, Castro-R, Diana   +3 more
core   +2 more sources

Unbalance in Myotonic Dystrophy-1 may follow cervical ataxia and respond to exercise [PDF]

, 2007
Patients with myotonic dystrophy-type 1 (DM-1) often fall, due to “intrinsic” mechanisms (eg legs “giving out”) for unknown reasons (Wiles CM.JNNP 2006;77:393-396). A case is presented, in which neck position sense was impaired.
C. Chessa, M. Atanni, L. Tesio
core   +2 more sources

IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting

European Journal of Histochemistry, 2009
In 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3’ region of serinethreonine ...
G Meola
doaj   +1 more source

Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1

Tomography
Introduction: Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults, characterized by weakness, impaired functional abilities, and myotonia.
Sydney Eierle, Tanja Taivassalo, Hyunjun Park, Korey D. Cooke, Zahra Moslemi, Sean C. Forbes, Glenn A. Walter, Krista Vandenborne, S. H. Subramony, Donovan J. Lott   +9 more
doaj   +1 more source