Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

Neurology

Volumn 80, Issue 23, 2013, Pages 2106-2111

  Murphy, Sinéad M ^a,b   Ernst, Daniela ^c   Wei, Yu ^c   Laurà, Matilde ^a   Liu, Yo Tsen ^a,d,e   Polke, James ^f   Blake, Julian ^f,g   Winer, John ^h   Houlden, Henry ^a   Hornemann, Thorsten ^c   Reilly, Mary M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^g NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^h QUEEN ELIZABETH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

1 DEOXYSPHINGOLIPID; ALANINE; SERINE PALMITOYLTRANSFERASE; SPHINGOLIPID; SPTLC2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTONOMIC NEUROPATHY; CELL FREE SYSTEM; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; SCREENING TEST; SENSORY NEUROPATHY;

ADULT; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SERINE C-PALMITOYLTRANSFERASE; SPHINGOLIPIDS;

EID: 84879103495     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318295d789     Document Type: Article

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