Neuromuscular endplate pathology in recessive desminopathies

Neurology

Volumn 87, Issue 8, 2016, Pages 799-805

  Durmuş, Hacer ^a   Ayhan, Özgecan ^a   Çirak, Sebahattin ^c   Deymeer, Feza ^a   Parman, Yeşim ^a   Franke, Andre ^d,e   Eiber, Nane ^f   Chevessier, Frederic ^f   Schlötzer Schrehardt, Ursula ^f   Clemen, Christoph S ^g   Hashemolhosseini, Said ^f   Schröder, Rolf ^f   Hemmrich Stanisak, Georg ^d,e   Tolun, Aslihan ^b   Serdaroǧlu Oflazer, Piraye ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^e UNIVERSITY OF KIEL   (Germany)

^f UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^g UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CAPTOPRIL; CHOLINERGIC RECEPTOR; CREATINE KINASE; DESMIN; DIGOXIN; MESSENGER RNA; SALBUTAMOL; BETA 2 ADRENERGIC RECEPTOR STIMULATING AGENT;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CARDIOMYOPATHY; CASE REPORT; CHILD; CHRONIC RESPIRATORY FAILURE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONTRACTURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DESMINOPATHY; DRUG EFFICACY; DYNAMOMETRY; ECHOCARDIOGRAPHY; EXOME; FATIGUE; FEMALE; FORCED VITAL CAPACITY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC LINKAGE; GENOME ANALYSIS; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HINDLIMB MUSCLE; HUMAN; LINKAGE ANALYSIS; LUNG FUNCTION TEST; MALE; MISSENSE MUTATION; MOTOR END PLATE; MOUSE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE STRENGTH; MUSCLE WEAKNESS; MYOPATHY; NONHUMAN; OPHTHALMOPLEGIA; PALLIATIVE THERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; RNA DEGRADATION; SCHOOL CHILD; SCOLIOSIS; SKELETAL MUSCLE; WILD TYPE; ANIMAL; CARDIOMYOPATHIES; CONSANGUINITY; DEFICIENCY; DISEASE MODEL; GENETICS; MUSCULAR DYSTROPHIES; NEUROMUSCULAR JUNCTION; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE;

ADOLESCENT; ADRENERGIC BETA-2 RECEPTOR AGONISTS; ALBUTEROL; ANIMALS; CARDIOMYOPATHIES; CHILD; CONSANGUINITY; DESMIN; DISEASE MODELS, ANIMAL; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICE; MOTOR ENDPLATE; MUSCULAR DYSTROPHIES; NEUROMUSCULAR JUNCTION; PEDIGREE;

EID: 84983507382     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000003004     Document Type: Article

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