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Nature Medicine, ISSN 1078-8956, 2011, Volume 17, Issue 6, pp. 720 - 725
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy... 
MEDICINE, RESEARCH & EXPERIMENTAL | CTG REPEAT | CENTRONUCLEAR MYOPATHY | PROTEIN-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MYOTUBULAR MYOPATHY | CELL BIOLOGY | SKELETAL-MUSCLE | MESSENGER-RNA | GENE | CHLORIDE CHANNEL | AMPHIPHYSIN-2 BIN1 | MUTATIONS | Cell Line | RNA-Binding Proteins - physiology | Humans | Alternative Splicing - physiology | Exons - genetics | Muscle Weakness - genetics | Protein Isoforms - physiology | Tumor Suppressor Proteins - physiology | Adaptor Proteins, Signal Transducing - physiology | Myotonic Dystrophy - physiopathology | Animals | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Myotonic Dystrophy - genetics | Mice | Nuclear Proteins - physiology | Muscle Weakness - physiopathology | Nuclear Proteins - genetics | Muscle Fibers, Skeletal - physiology | RNA-Binding Proteins - metabolism | Protein Isoforms - genetics | Muscle weakness | Myotonic dystrophy | RNA | Physiological aspects | Genetic aspects | Research | Risk factors | Musculoskeletal diseases | Musculoskeletal system | Biosynthesis | Protein synthesis | Muscular dystrophy | Index Medicus | Alternative Splicing | Exons | Myotonic Dystrophy | RNA-Binding Proteins | Nuclear Proteins | Life Sciences | Adaptor Proteins, Signal Transducing | Muscle Fibers, Skeletal | Protein Isoforms | Muscle Weakness | Tumor Suppressor Proteins | Cancer | Naturvetenskap | Natural Sciences
Journal Article
Nature Communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, pp. 11067 - 11067
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1 - 10
Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP)... 
Musculoskeletal system | Phenotypes | Calcium | Channel gating | Calcium channels (voltage-gated) | Sodium channels (voltage-gated) | Paralysis | Mutation | Potassium | Gating | Skeletal muscle | Life Sciences | Human health and pathology | Genetics | Human genetics
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 01/2016, Volume 22
Journal Article
Parkinsonism and Related Disorders, ISSN 1353-8020, 2015, Volume 22, pp. e99 - e100
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2018, Volume 114, Issue 3, pp. 636a - 636a
Journal Article
Neurology and Clinical Neuroscience, ISSN 2049-4173, 07/2014, Volume 2, Issue 4, pp. 97 - 103
  Background and Aim Myotonic dystrophy type 1 (DM1) is a multisystemic disease, and patients often visit a variety of specialists before being correctly... 
physical examination | screening | self‐administered questionnaire | myotonic dystrophy type 1 | receiver operating characteristic curves | Medical research | Questionnaires | Family medical history
Journal Article
Scientific reports, 11/2018, Volume 8, Issue 1, p. 16681
Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP)... 
Journal Article
Journal of Neurology, ISSN 0340-5354, 3/2010, Volume 257, Issue 3, pp. 461 - 463
The muscle volume analyzer (MVA) can predict limb muscle weight based on bioelectric impedance analysis, whereas the conventional handheld dynamometer (HHD)... 
Pompe disease | Neurology | Neurosciences | Medicine & Public Health | Bioelectric impedance | Handheld dynamometer | Late onset | Muscle volume analyzer | Neuroradiology | CLINICAL NEUROLOGY | Outcome Assessment (Health Care) - methods | Recombinant Proteins - therapeutic use | alpha-Glucosidases - pharmacology | Recovery of Function - drug effects | Muscle Weakness - diagnosis | Humans | Respiratory Paralysis - drug therapy | Glycogen Storage Disease Type II - drug therapy | Respiratory Paralysis - physiopathology | Muscular Atrophy - physiopathology | Respiratory Paralysis - diagnosis | alpha-Glucosidases - therapeutic use | Muscle, Skeletal - drug effects | Muscular Atrophy - diagnosis | Recovery of Function - physiology | Adult | Female | Muscle, Skeletal - enzymology | Electrodiagnosis - instrumentation | Treatment Outcome | Electric Impedance | Recombinant Proteins - pharmacology | Muscular Atrophy - drug therapy | Electrodiagnosis - methods | Respiration, Artificial | Glycogen Storage Disease Type II - physiopathology | Enzyme Replacement Therapy - methods | Leg - pathology | alpha-Glucosidases - deficiency | Muscle Weakness - drug therapy | Muscle, Skeletal - physiopathology | Age of Onset | Glycogen Storage Disease Type II - diagnosis | Leg - physiopathology | Muscle Weakness - physiopathology | Measurement | Enzymes | Usage | Glycogenosis | Impedance, Bioelectric | Development and progression | Health aspects | Methods | Dynamometer
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2011, Volume 309, Issue 1, pp. 9 - 11
Journal Article
Rinsho shinkeigaku = Clinical neurology, ISSN 0009-918X, 03/2011, Volume 51, Issue 3, pp. 192 - 196
We treated a 25-year-old woman with encephalitis. Following delivery, the patient developed fever, consciousness disturbance, cognitive dysfunction, and... 
Puerperal Disorders | Autoantibodies - blood | Humans | Encephalitis - pathology | Pulvinar - pathology | Encephalitis - immunology | Basal Ganglia - pathology | Pregnancy | Magnetic Resonance Imaging | Brain - pathology | Adult | Female | Receptors, N-Methyl-D-Aspartate - immunology | Index Medicus
Journal Article
Rinsho Shinkeigaku, ISSN 0009-918X, 2013, Volume 53, Issue 4, pp. 316 - 319
Journal Article
Rinsho shinkeigaku = Clinical neurology, ISSN 0009-918X, 09/2011, Volume 51, Issue 9, pp. 677 - 682
An anonymous postal survey of cardiologists, diabetologists, gynecologists, and ophthalmologists in Osaka was performed to assess the medical care-seeking... 
Myotonic Dystrophy - diagnosis | Gynecology | Humans | Japan | Surveys and Questionnaires | Referral and Consultation | Ophthalmology | Cardiology | Diabetes Mellitus | Index Medicus
Journal Article
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