[HTML][HTML] Core clinical phenotypes in myotonic dystrophies
S Wenninger, F Montagnese, B Schoser - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …
multisystemic muscular dystrophies in adulthood. They are progressive, autosomal …
Myotonic dystrophy
JI Hamel - CONTINUUM: Lifelong Learning in Neurology, 2022 - journals.lww.com
PURPOSE OF REVIEW Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …
(DM2) are genetic disorders affecting skeletal and smooth muscle, heart, brain, eyes, and …
[HTML][HTML] Myotonic dystrophy type 2: the 2020 update
G Meola - Acta Myologica, 2020 - ncbi.nlm.nih.gov
The myotonic dystrophies are the commonest cause of adult-onset muscular dystrophy.
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
Phenotypes of DM1 and DM2 are similar, but there are some important differences …
[HTML][HTML] Thyroid hormones play role in sarcopenia and myopathies
FF Bloise, TS Oliveira, A Cordeiro… - Frontiers in …, 2018 - frontiersin.org
Skeletal muscle maintains posture and enables movement by converting chemical energy
into mechanical energy, further contributing to basal energy metabolism. Thyroid hormones …
into mechanical energy, further contributing to basal energy metabolism. Thyroid hormones …
[HTML][HTML] Myotonic dystrophies: targeting therapies for multisystem disease
S LoRusso, B Weiner, WD Arnold - Neurotherapeutics, 2018 - Elsevier
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …
muscle weakness, atrophy, and myotonia but also prominent multisystem involvement …
Sex differences in neuromuscular disorders
C Vinciguerra, S Iacono, L Bevilacqua… - Mechanisms of ageing …, 2023 - Elsevier
The prevalence, onset, pathophysiology, and clinical course of many neuromuscular
disorders (NMDs) may significantly differ between males and females. Some NMDs are …
disorders (NMDs) may significantly differ between males and females. Some NMDs are …
Consensus-based care recommendations for adults with myotonic dystrophy type 2
B Schoser, F Montagnese, G Bassez… - Neurology: Clinical …, 2019 - AAN Enterprises
Purpose of review Myotonic dystrophy type 2 (DM2) is a rare, progressive multisystem
disease particularly affecting the skeletal muscle. A causal therapy is not yet available; …
disease particularly affecting the skeletal muscle. A causal therapy is not yet available; …
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
M Alfano, L De Antoni, F Centofanti, VV Visconti… - elife, 2022 - elifesciences.org
Abstract Myotonic dystrophy type 2 (DM2) is caused by CCTG repeat expansions in the
CNBP gene, comprising 75 to> 11,000 units and featuring extensive mosaicism, making it …
CNBP gene, comprising 75 to> 11,000 units and featuring extensive mosaicism, making it …
[HTML][HTML] Myotonic dystrophy—A progeroid disease?
P Meinke, S Hintze, S Limmer, B Schoser - Frontiers in neurology, 2018 - frontiersin.org
Myotonic dystrophies (DM) are slowly progressing multisystemic disorders caused by repeat
expansions in the DMPK or CNBP genes. The multisystemic involvement in DM patients …
expansions in the DMPK or CNBP genes. The multisystemic involvement in DM patients …
Repeat-associated RNA structure and aberrant splicing
MA Hale, NE Johnson, JA Berglund - Biochimica et Biophysica Acta (BBA) …, 2019 - Elsevier
Over 30 hereditary disorders attributed to the expansion of microsatellite repeats have been
identified. Despite variant nucleotide content, number of consecutive repeats, and different …
identified. Despite variant nucleotide content, number of consecutive repeats, and different …