Results 111 to 120 of about 15,859 (215)
TALEN-Induced Double-Strand Break Repair of CTG Trinucleotide Repeats
Cell Reports, 2018 Summary: Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington’s disease. Because expansions trigger the disease, contracting repeat length could be
Valentine Mosbach +4 more
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Neurobiology of DiseaseShort tandem repeat expansions in C9orf72, DMPK, and CNBP genes cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) and myotonic dystrophy types 1 and 2 (DM1/DM2), respectively.
Claudia Alberti +3 more
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Dystrophia myotonia type 1 with excessive daytime sleepiness: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI：10.3969/j.issn.1672⁃6731.2020.07 ...
Rui-rui ZHANG +4 more
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In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]
, 2016 INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H +5 more
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BioengineeringThe temporomandibular joint (TMJ) is essential for chewing and speaking functions, as well as for making facial expressions. However, this joint can be affected by disorders, known as temporomandibular disorders (TMDs), induced by complex causes that ...
Daniele Della Posta +7 more
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Myotonic dystrophy type 1 – a multiorgan disorder
Tidsskrift for Den norske legeforeningMyotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each
Kristin, Ørstavik +8 more
openaire +2 more sources
Prevalence of myotonic dystrophy in Iceland [PDF]
, 2007 Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir +4 more
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Association of peripheral neuropathy with sleep-related breathing disorders in myotonic dystrophies
Neuropsychiatric Disease and Treatment, 2017 Marta Banach,1,* Jakub Antczak,1,* Rafał Rola21Department of Clinical Neurophysiology, 2First Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland *These authors contributed equally to this workBackground: Myotonic dystrophy (DM)
Banach M, Antczak J, Rola R
doaj
Dentofacial characteristics of growing patients with Duchenne muscular dystrophy: a morphological study [PDF]
, 2017 Occlusal traits and craniofacial morphology were studied in growing patients with Duchenne muscular dystrophy (DMD). Sixteen patients from 6 to 20 years of age were examined and compared with 16 healthy male individuals matched according to age.
Botteron, Sébastien +2 more
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