The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

European Journal of Neurology

Volumn 19, Issue 7, 2012, Pages 992-998

  Leonardis, L ^a   Auer Grumbach, M ^b   Papic L ^b   Zidar, J ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

ATL1; Hereditary sensory neuropathy type I; Ulcero mutilating sensory neuropathy

Indexed keywords

ATLASTIN 1; PROTEIN; UNCLASSIFIED DRUG;

ACHILLES REFLEX; ADULT; ALCOHOL CONSUMPTION; ARTICLE; ATROPHIC SKIN DISEASE; BRAIN ELECTROPHYSIOLOGY; CLINICAL ARTICLE; DISEASE ASSOCIATION; FAMILY; FEMALE; FOOT AMPUTATION; GENETIC SCREENING; HEARING LOSS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERHIDROSIS; HYPERREFLEXIA; HYPESTHESIA; HYPOTROPHY; LIMB AMPUTATION; MALE; MOTOR NERVE CONDUCTION; MUSCLE TONE; MUTATION; NERVE FIBER; PAIN; PATELLA; PERONEUS NERVE; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL TRACT; RISK; SENSORY DYSFUNCTION; SENSORY NERVE CONDUCTION; SEQUENCE ANALYSIS; TENDON REFLEX; TIBIAL NERVE; TIBIALIS ANTERIOR MUSCLE; TOE; ULCER;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; FEMALE; GENETIC ASSOCIATION STUDIES; GTP-BINDING PROTEINS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NEURAL CONDUCTION; PEDIGREE; PYRAMIDAL TRACTS; YOUNG ADULT;

EID: 84862309990     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2012.03665.x     Document Type: Article

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