ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

Neurology

Volumn 67, Issue 6, 2006, Pages 1074-1077

  Parkinson, N ^a   Ince, P G ^b,f   Smith, M O ^b   Highley, R ^b   Skibinski, G ^a   Andersen, P M ^c   Morrison, K E ^d   Pall, H S ^d   Hardiman, O ^e   Collinge, J ^a   Shaw, P J ^b   Fisher, E M C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e BEAUMONT HOSPITAL   (Ireland)

^f UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHARGED MULTIVESICULAR BODY PROTEIN 2B; PROTEIN; PROTEIN P62; UNCLASSIFIED DRUG;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; COHORT ANALYSIS; GENE MUTATION; HUMAN; MALE; MOTONEURON; MOTOR CORTEX; NEUROPATHOLOGY; OLIGODENDROGLIA; PHENOTYPE; PRIORITY JOURNAL; SCREENING; UBIQUITINATION;

AGED; ALPHA-SYNUCLEIN; AMYOTROPHIC LATERAL SCLEROSIS; BRAIN; DNA MUTATIONAL ANALYSIS; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMINE; HISTIDINE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOLEUCINE; MALE; MUTATION; NERVE TISSUE PROTEINS; NEUROFILAMENT PROTEINS; PHENOTYPE; PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SPINAL CORD; TAU PROTEINS; UBIQUITIN; VALINE;

EID: 33749006845     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000231510.89311.8b     Document Type: Article

References (10)

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